Name: rs1491458588
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1491458588

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:152339487-152339491 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: dupC
Variation Type: Indel Insertion and Deletion
Frequency: dupC=0.000036 (5/139468, GnomAD)
dupC=0.00007 (1/14050, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MBNL1 : Intron Variant
TMEM14EP : 500B Downstream Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HTRZ	HWEP
Total	Global	14050	CCCCC=0.99993	CCCCCC=0.00007	0.999858	0.000142	0
European	Sub	9690	CCCCC=1.0000	CCCCCC=0.0000	1.0	0.0	N/A
African	Sub	2898	CCCCC=0.9997	CCCCCC=0.0003	0.99931	0.00069	0
African Others	Sub	114	CCCCC=0.991	CCCCCC=0.009	0.982456	0.017544	0
African American	Sub	2784	CCCCC=1.0000	CCCCCC=0.0000	1.0	0.0	N/A
Asian	Sub	112	CCCCC=1.000	CCCCCC=0.000	1.0	0.0	N/A
East Asian	Sub	86	CCCCC=1.00	CCCCCC=0.00	1.0	0.0	N/A
Other Asian	Sub	26	CCCCC=1.00	CCCCCC=0.00	1.0	0.0	N/A
Latin American 1	Sub	146	CCCCC=1.000	CCCCCC=0.000	1.0	0.0	N/A
Latin American 2	Sub	610	CCCCC=1.000	CCCCCC=0.000	1.0	0.0	N/A
South Asian	Sub	98	CCCCC=1.00	CCCCCC=0.00	1.0	0.0	N/A
Other	Sub	496	CCCCC=1.000	CCCCCC=0.000	1.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD - Genomes	Global	Study-wide	139468	- No frequency provided	dupC=0.000036
gnomAD - Genomes	European	Sub	75430	- No frequency provided	dupC=0.00000
gnomAD - Genomes	African	Sub	41912	- No frequency provided	dupC=0.00012
gnomAD - Genomes	American	Sub	13572	- No frequency provided	dupC=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3302	- No frequency provided	dupC=0.0000
gnomAD - Genomes	East Asian	Sub	3126	- No frequency provided	dupC=0.0000
gnomAD - Genomes	Other	Sub	2126	- No frequency provided	dupC=0.0000
Allele Frequency Aggregator	Total	Global	14050	(C)₅=0.99993	dupC=0.00007
Allele Frequency Aggregator	European	Sub	9690	(C)₅=1.0000	dupC=0.0000
Allele Frequency Aggregator	African	Sub	2898	(C)₅=0.9997	dupC=0.0003
Allele Frequency Aggregator	Latin American 2	Sub	610	(C)₅=1.000	dupC=0.000
Allele Frequency Aggregator	Other	Sub	496	(C)₅=1.000	dupC=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(C)₅=1.000	dupC=0.000
Allele Frequency Aggregator	Asian	Sub	112	(C)₅=1.000	dupC=0.000
Allele Frequency Aggregator	South Asian	Sub	98	(C)₅=1.00	dupC=0.00

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 3	NC_000003.12:g.152339491dup
GRCh37.p13 chr 3	NC_000003.11:g.152057280dup
MBNL1 RefSeqGene	NG_047058.1:g.100171dup

Gene: MBNL1, muscleblind like splicing regulator 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MBNL1 transcript variant 8	NM_001314057.2:c.-56+4261… NM_001314057.2:c.-56+4261dup	N/A	Intron Variant
MBNL1 transcript variant 9	NM_001363870.1:c.174+3912… NM_001363870.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 10	NM_001376818.1:c.267+3851… NM_001376818.1:c.267+38518dup	N/A	Intron Variant
MBNL1 transcript variant 11	NM_001376819.1:c.267+3851… NM_001376819.1:c.267+38518dup	N/A	Intron Variant
MBNL1 transcript variant 12	NM_001376820.1:c.174+3912… NM_001376820.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 13	NM_001376821.1:c.174+3912… NM_001376821.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 14	NM_001376822.1:c.174+3912… NM_001376822.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 15	NM_001376823.1:c.174+3912… NM_001376823.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 16	NM_001376824.1:c.174+3912… NM_001376824.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 17	NM_001376825.1:c.174+3912… NM_001376825.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 18	NM_001376826.1:c.174+3912… NM_001376826.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 19	NM_001376827.1:c.174+3912… NM_001376827.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 20	NM_001376828.1:c.174+3912… NM_001376828.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 21	NM_001376829.1:c.174+3912… NM_001376829.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 22	NM_001376830.1:c.174+3912… NM_001376830.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 23	NM_001376831.1:c.174+3912… NM_001376831.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 24	NM_001376832.1:c.174+3912… NM_001376832.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 25	NM_001376833.1:c.174+3912… NM_001376833.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 26	NM_001376834.1:c.174+3912… NM_001376834.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 27	NM_001376835.1:c.174+3912… NM_001376835.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 28	NM_001376836.1:c.174+3912… NM_001376836.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 29	NM_001376837.1:c.6+4261dup	N/A	Intron Variant
MBNL1 transcript variant 30	NM_001376838.1:c.174+3912… NM_001376838.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 31	NM_001376839.1:c.-102-754… NM_001376839.1:c.-102-75450dup	N/A	Intron Variant
MBNL1 transcript variant 32	NM_001376840.1:c.-102-754… NM_001376840.1:c.-102-75450dup	N/A	Intron Variant
MBNL1 transcript variant 33	NM_001376841.1:c.-103+703… NM_001376841.1:c.-103+70399dup	N/A	Intron Variant
MBNL1 transcript variant 34	NM_001376842.1:c.-103+700… NM_001376842.1:c.-103+70084dup	N/A	Intron Variant
MBNL1 transcript variant 35	NM_001376843.1:c.-103+391… NM_001376843.1:c.-103+39124dup	N/A	Intron Variant
MBNL1 transcript variant 36	NM_001376844.1:c.-103+703… NM_001376844.1:c.-103+70399dup	N/A	Intron Variant
MBNL1 transcript variant 37	NM_001376845.1:c.-102-754… NM_001376845.1:c.-102-75450dup	N/A	Intron Variant
MBNL1 transcript variant 38	NM_001376846.1:c.-103+700… NM_001376846.1:c.-103+70084dup	N/A	Intron Variant
MBNL1 transcript variant 39	NM_001376847.1:c.-4+70399… NM_001376847.1:c.-4+70399dup	N/A	Intron Variant
MBNL1 transcript variant 40	NM_001376848.1:c.-103+700… NM_001376848.1:c.-103+70084dup	N/A	Intron Variant
MBNL1 transcript variant 41	NM_001376849.1:c.-103+700… NM_001376849.1:c.-103+70084dup	N/A	Intron Variant
MBNL1 transcript variant 42	NM_001376851.1:c.-103+703… NM_001376851.1:c.-103+70399dup	N/A	Intron Variant
MBNL1 transcript variant 43	NM_001376853.1:c.174+3912… NM_001376853.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 114	NM_001387781.1:c.267+3851… NM_001387781.1:c.267+38518dup	N/A	Intron Variant
MBNL1 transcript variant 52	NM_001387782.1:c.267+3851… NM_001387782.1:c.267+38518dup	N/A	Intron Variant
MBNL1 transcript variant 53	NM_001387783.1:c.267+3851… NM_001387783.1:c.267+38518dup	N/A	Intron Variant
MBNL1 transcript variant 54	NM_001387784.1:c.267+3851… NM_001387784.1:c.267+38518dup	N/A	Intron Variant
MBNL1 transcript variant 55	NM_001387785.1:c.174+3912… NM_001387785.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 56	NM_001387786.1:c.174+3912… NM_001387786.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 57	NM_001387787.1:c.174+3912… NM_001387787.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 58	NM_001387788.1:c.174+3912… NM_001387788.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 59	NM_001387789.1:c.174+3912… NM_001387789.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 60	NM_001387790.1:c.174+3912… NM_001387790.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 61	NM_001387791.1:c.6+4261dup	N/A	Intron Variant
MBNL1 transcript variant 62	NM_001387792.1:c.174+3912… NM_001387792.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 63	NM_001387793.1:c.174+3912… NM_001387793.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 64	NM_001387794.1:c.174+3912… NM_001387794.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 65	NM_001387795.1:c.174+3912… NM_001387795.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 66	NM_001387796.1:c.174+3912… NM_001387796.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 67	NM_001387797.1:c.6+4261dup	N/A	Intron Variant
MBNL1 transcript variant 68	NM_001387798.1:c.6+4261dup	N/A	Intron Variant
MBNL1 transcript variant 69	NM_001387799.1:c.6+13974d… NM_001387799.1:c.6+13974dup	N/A	Intron Variant
MBNL1 transcript variant 70	NM_001387800.1:c.-55-5667… NM_001387800.1:c.-55-56676dup	N/A	Intron Variant
MBNL1 transcript variant 71	NM_001387801.1:c.174+3912… NM_001387801.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 72	NM_001387802.1:c.174+3912… NM_001387802.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 73	NM_001387803.1:c.6+4261dup	N/A	Intron Variant
MBNL1 transcript variant 74	NM_001387804.1:c.-103+703… NM_001387804.1:c.-103+70399dup	N/A	Intron Variant
MBNL1 transcript variant 75	NM_001387805.1:c.-103+818… NM_001387805.1:c.-103+818dup	N/A	Intron Variant
MBNL1 transcript variant 76	NM_001387806.1:c.-103+818… NM_001387806.1:c.-103+818dup	N/A	Intron Variant
MBNL1 transcript variant 77	NM_001387807.1:c.-103+391… NM_001387807.1:c.-103+39124dup	N/A	Intron Variant
MBNL1 transcript variant 78	NM_001387808.1:c.-103+700… NM_001387808.1:c.-103+70084dup	N/A	Intron Variant
MBNL1 transcript variant 79	NM_001387809.1:c.-103+703… NM_001387809.1:c.-103+70399dup	N/A	Intron Variant
MBNL1 transcript variant 80	NM_001387810.1:c.-103+818… NM_001387810.1:c.-103+818dup	N/A	Intron Variant
MBNL1 transcript variant 81	NM_001387811.1:c.-103+818… NM_001387811.1:c.-103+818dup	N/A	Intron Variant
MBNL1 transcript variant 82	NM_001387812.1:c.-103+818… NM_001387812.1:c.-103+818dup	N/A	Intron Variant
MBNL1 transcript variant 83	NM_001387813.1:c.-103+391… NM_001387813.1:c.-103+39124dup	N/A	Intron Variant
MBNL1 transcript variant 84	NM_001387814.1:c.-103+818… NM_001387814.1:c.-103+818dup	N/A	Intron Variant
MBNL1 transcript variant 85	NM_001387815.1:c.-103+818… NM_001387815.1:c.-103+818dup	N/A	Intron Variant
MBNL1 transcript variant 86	NM_001387816.1:c.-103+697… NM_001387816.1:c.-103+69713dup	N/A	Intron Variant
MBNL1 transcript variant 87	NM_001387817.1:c.-103+818… NM_001387817.1:c.-103+818dup	N/A	Intron Variant
MBNL1 transcript variant 88	NM_001387818.1:c.-103+391… NM_001387818.1:c.-103+39124dup	N/A	Intron Variant
MBNL1 transcript variant 89	NM_001387819.1:c.174+3912… NM_001387819.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 90	NM_001387820.1:c.174+3912… NM_001387820.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 91	NM_001387821.1:c.-3-93226… NM_001387821.1:c.-3-93226dup	N/A	Intron Variant
MBNL1 transcript variant 92	NM_001387822.1:c.-102-754… NM_001387822.1:c.-102-75450dup	N/A	Intron Variant
MBNL1 transcript variant 93	NM_001387823.1:c.-103+703… NM_001387823.1:c.-103+70399dup	N/A	Intron Variant
MBNL1 transcript variant 94	NM_001387824.1:c.-103+700… NM_001387824.1:c.-103+70084dup	N/A	Intron Variant
MBNL1 transcript variant 95	NM_001387825.1:c.-103+703… NM_001387825.1:c.-103+70399dup	N/A	Intron Variant
MBNL1 transcript variant 96	NM_001387826.1:c.-103+700… NM_001387826.1:c.-103+70084dup	N/A	Intron Variant
MBNL1 transcript variant 97	NM_001387827.1:c.-103+391… NM_001387827.1:c.-103+39124dup	N/A	Intron Variant
MBNL1 transcript variant 98	NM_001387828.1:c.-103+703… NM_001387828.1:c.-103+70399dup	N/A	Intron Variant
MBNL1 transcript variant 99	NM_001387829.1:c.-103+700… NM_001387829.1:c.-103+70084dup	N/A	Intron Variant
MBNL1 transcript variant 100	NM_001387830.1:c.-103+703… NM_001387830.1:c.-103+70399dup	N/A	Intron Variant
MBNL1 transcript variant 101	NM_001387831.1:c.-102-754… NM_001387831.1:c.-102-75450dup	N/A	Intron Variant
MBNL1 transcript variant 102	NM_001387832.1:c.-103+703… NM_001387832.1:c.-103+70399dup	N/A	Intron Variant
MBNL1 transcript variant 103	NM_001387833.1:c.-103+700… NM_001387833.1:c.-103+70084dup	N/A	Intron Variant
MBNL1 transcript variant 104	NM_001387834.1:c.-79+7039… NM_001387834.1:c.-79+70399dup	N/A	Intron Variant
MBNL1 transcript variant 1	NM_021038.5:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 2	NM_207292.3:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 3	NM_207293.2:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 4	NM_207294.2:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 5	NM_207295.2:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 6	NM_207296.2:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 7	NM_207297.2:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant 44	NR_164857.1:n.	N/A	Intron Variant
MBNL1 transcript variant 45	NR_164858.1:n.	N/A	Intron Variant
MBNL1 transcript variant 46	NR_164860.1:n.	N/A	Intron Variant
MBNL1 transcript variant 47	NR_164861.1:n.	N/A	Intron Variant
MBNL1 transcript variant 48	NR_164862.1:n.	N/A	Intron Variant
MBNL1 transcript variant 49	NR_164863.1:n.	N/A	Intron Variant
MBNL1 transcript variant 50	NR_164864.1:n.	N/A	Intron Variant
MBNL1 transcript variant 51	NR_164865.1:n.	N/A	Intron Variant
MBNL1 transcript variant 105	NR_170696.1:n.	N/A	Intron Variant
MBNL1 transcript variant 106	NR_170697.1:n.	N/A	Intron Variant
MBNL1 transcript variant 107	NR_170698.1:n.	N/A	Intron Variant
MBNL1 transcript variant 108	NR_170700.1:n.	N/A	Intron Variant
MBNL1 transcript variant 109	NR_170701.1:n.	N/A	Intron Variant
MBNL1 transcript variant 110	NR_170702.1:n.	N/A	Intron Variant
MBNL1 transcript variant 111	NR_170703.1:n.	N/A	Intron Variant
MBNL1 transcript variant X1	XM_005247458.6:c.267+3851… XM_005247458.6:c.267+38518dup	N/A	Intron Variant
MBNL1 transcript variant X2	XM_005247461.5:c.267+3851… XM_005247461.5:c.267+38518dup	N/A	Intron Variant
MBNL1 transcript variant X4	XM_047448135.1:c.174+3912… XM_047448135.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant X5	XM_047448136.1:c.174+3912… XM_047448136.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant X6	XM_047448137.1:c.174+3912… XM_047448137.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant X7	XM_047448138.1:c.174+3912… XM_047448138.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant X8	XM_047448139.1:c.174+3912… XM_047448139.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant X9	XM_047448140.1:c.6+4261dup	N/A	Intron Variant
MBNL1 transcript variant X10	XM_047448141.1:c.174+3912… XM_047448141.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant X11	XM_047448142.1:c.174+3912… XM_047448142.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant X12	XM_047448143.1:c.6+4261dup	N/A	Intron Variant
MBNL1 transcript variant X13	XM_047448144.1:c.174+3912… XM_047448144.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant X14	XM_047448145.1:c.174+3912… XM_047448145.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant X15	XM_047448146.1:c.6+4261dup	N/A	Intron Variant
MBNL1 transcript variant X16	XM_047448147.1:c.174+3912… XM_047448147.1:c.174+39124dup	N/A	Intron Variant
MBNL1 transcript variant X17	XM_047448148.1:c.6+4261dup	N/A	Intron Variant
MBNL1 transcript variant X18	XM_047448149.1:c.6+4261dup	N/A	Intron Variant
MBNL1 transcript variant X3	XR_007095679.1:n.	N/A	Intron Variant

Gene: TMEM14EP, transmembrane protein 14E, pseudogene (minus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM14EP transcript	NR_132656.1:n.	N/A	Downstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(C)₅=	dupC
GRCh38.p14 chr 3	NC_000003.12:g.152339487_152339491=	NC_000003.12:g.152339491dup
GRCh37.p13 chr 3	NC_000003.11:g.152057276_152057280=	NC_000003.11:g.152057280dup
MBNL1 RefSeqGene	NG_047058.1:g.100167_100171=	NG_047058.1:g.100171dup
MBNL1 transcript variant 8	NM_001314057.2:c.-56+4257=	NM_001314057.2:c.-56+4261dup
MBNL1 transcript variant 9	NM_001363870.1:c.174+39120=	NM_001363870.1:c.174+39124dup
MBNL1 transcript variant 10	NM_001376818.1:c.267+38514=	NM_001376818.1:c.267+38518dup
MBNL1 transcript variant 11	NM_001376819.1:c.267+38514=	NM_001376819.1:c.267+38518dup
MBNL1 transcript variant 12	NM_001376820.1:c.174+39120=	NM_001376820.1:c.174+39124dup
MBNL1 transcript variant 13	NM_001376821.1:c.174+39120=	NM_001376821.1:c.174+39124dup
MBNL1 transcript variant 14	NM_001376822.1:c.174+39120=	NM_001376822.1:c.174+39124dup
MBNL1 transcript variant 15	NM_001376823.1:c.174+39120=	NM_001376823.1:c.174+39124dup
MBNL1 transcript variant 16	NM_001376824.1:c.174+39120=	NM_001376824.1:c.174+39124dup
MBNL1 transcript variant 17	NM_001376825.1:c.174+39120=	NM_001376825.1:c.174+39124dup
MBNL1 transcript variant 18	NM_001376826.1:c.174+39120=	NM_001376826.1:c.174+39124dup
MBNL1 transcript variant 19	NM_001376827.1:c.174+39120=	NM_001376827.1:c.174+39124dup
MBNL1 transcript variant 20	NM_001376828.1:c.174+39120=	NM_001376828.1:c.174+39124dup
MBNL1 transcript variant 21	NM_001376829.1:c.174+39120=	NM_001376829.1:c.174+39124dup
MBNL1 transcript variant 22	NM_001376830.1:c.174+39120=	NM_001376830.1:c.174+39124dup
MBNL1 transcript variant 23	NM_001376831.1:c.174+39120=	NM_001376831.1:c.174+39124dup
MBNL1 transcript variant 24	NM_001376832.1:c.174+39120=	NM_001376832.1:c.174+39124dup
MBNL1 transcript variant 25	NM_001376833.1:c.174+39120=	NM_001376833.1:c.174+39124dup
MBNL1 transcript variant 26	NM_001376834.1:c.174+39120=	NM_001376834.1:c.174+39124dup
MBNL1 transcript variant 27	NM_001376835.1:c.174+39120=	NM_001376835.1:c.174+39124dup
MBNL1 transcript variant 28	NM_001376836.1:c.174+39120=	NM_001376836.1:c.174+39124dup
MBNL1 transcript variant 29	NM_001376837.1:c.6+4257=	NM_001376837.1:c.6+4261dup
MBNL1 transcript variant 30	NM_001376838.1:c.174+39120=	NM_001376838.1:c.174+39124dup
MBNL1 transcript variant 31	NM_001376839.1:c.-102-75454=	NM_001376839.1:c.-102-75450dup
MBNL1 transcript variant 32	NM_001376840.1:c.-102-75454=	NM_001376840.1:c.-102-75450dup
MBNL1 transcript variant 33	NM_001376841.1:c.-103+70395=	NM_001376841.1:c.-103+70399dup
MBNL1 transcript variant 34	NM_001376842.1:c.-103+70080=	NM_001376842.1:c.-103+70084dup
MBNL1 transcript variant 35	NM_001376843.1:c.-103+39120=	NM_001376843.1:c.-103+39124dup
MBNL1 transcript variant 36	NM_001376844.1:c.-103+70395=	NM_001376844.1:c.-103+70399dup
MBNL1 transcript variant 37	NM_001376845.1:c.-102-75454=	NM_001376845.1:c.-102-75450dup
MBNL1 transcript variant 38	NM_001376846.1:c.-103+70080=	NM_001376846.1:c.-103+70084dup
MBNL1 transcript variant 39	NM_001376847.1:c.-4+70395=	NM_001376847.1:c.-4+70399dup
MBNL1 transcript variant 40	NM_001376848.1:c.-103+70080=	NM_001376848.1:c.-103+70084dup
MBNL1 transcript variant 41	NM_001376849.1:c.-103+70080=	NM_001376849.1:c.-103+70084dup
MBNL1 transcript variant 42	NM_001376851.1:c.-103+70395=	NM_001376851.1:c.-103+70399dup
MBNL1 transcript variant 43	NM_001376853.1:c.174+39120=	NM_001376853.1:c.174+39124dup
MBNL1 transcript variant 114	NM_001387781.1:c.267+38514=	NM_001387781.1:c.267+38518dup
MBNL1 transcript variant 52	NM_001387782.1:c.267+38514=	NM_001387782.1:c.267+38518dup
MBNL1 transcript variant 53	NM_001387783.1:c.267+38514=	NM_001387783.1:c.267+38518dup
MBNL1 transcript variant 54	NM_001387784.1:c.267+38514=	NM_001387784.1:c.267+38518dup
MBNL1 transcript variant 55	NM_001387785.1:c.174+39120=	NM_001387785.1:c.174+39124dup
MBNL1 transcript variant 56	NM_001387786.1:c.174+39120=	NM_001387786.1:c.174+39124dup
MBNL1 transcript variant 57	NM_001387787.1:c.174+39120=	NM_001387787.1:c.174+39124dup
MBNL1 transcript variant 58	NM_001387788.1:c.174+39120=	NM_001387788.1:c.174+39124dup
MBNL1 transcript variant 59	NM_001387789.1:c.174+39120=	NM_001387789.1:c.174+39124dup
MBNL1 transcript variant 60	NM_001387790.1:c.174+39120=	NM_001387790.1:c.174+39124dup
MBNL1 transcript variant 61	NM_001387791.1:c.6+4257=	NM_001387791.1:c.6+4261dup
MBNL1 transcript variant 62	NM_001387792.1:c.174+39120=	NM_001387792.1:c.174+39124dup
MBNL1 transcript variant 63	NM_001387793.1:c.174+39120=	NM_001387793.1:c.174+39124dup
MBNL1 transcript variant 64	NM_001387794.1:c.174+39120=	NM_001387794.1:c.174+39124dup
MBNL1 transcript variant 65	NM_001387795.1:c.174+39120=	NM_001387795.1:c.174+39124dup
MBNL1 transcript variant 66	NM_001387796.1:c.174+39120=	NM_001387796.1:c.174+39124dup
MBNL1 transcript variant 67	NM_001387797.1:c.6+4257=	NM_001387797.1:c.6+4261dup
MBNL1 transcript variant 68	NM_001387798.1:c.6+4257=	NM_001387798.1:c.6+4261dup
MBNL1 transcript variant 69	NM_001387799.1:c.6+13970=	NM_001387799.1:c.6+13974dup
MBNL1 transcript variant 70	NM_001387800.1:c.-55-56680=	NM_001387800.1:c.-55-56676dup
MBNL1 transcript variant 71	NM_001387801.1:c.174+39120=	NM_001387801.1:c.174+39124dup
MBNL1 transcript variant 72	NM_001387802.1:c.174+39120=	NM_001387802.1:c.174+39124dup
MBNL1 transcript variant 73	NM_001387803.1:c.6+4257=	NM_001387803.1:c.6+4261dup
MBNL1 transcript variant 74	NM_001387804.1:c.-103+70395=	NM_001387804.1:c.-103+70399dup
MBNL1 transcript variant 75	NM_001387805.1:c.-103+814=	NM_001387805.1:c.-103+818dup
MBNL1 transcript variant 76	NM_001387806.1:c.-103+814=	NM_001387806.1:c.-103+818dup
MBNL1 transcript variant 77	NM_001387807.1:c.-103+39120=	NM_001387807.1:c.-103+39124dup
MBNL1 transcript variant 78	NM_001387808.1:c.-103+70080=	NM_001387808.1:c.-103+70084dup
MBNL1 transcript variant 79	NM_001387809.1:c.-103+70395=	NM_001387809.1:c.-103+70399dup
MBNL1 transcript variant 80	NM_001387810.1:c.-103+814=	NM_001387810.1:c.-103+818dup
MBNL1 transcript variant 81	NM_001387811.1:c.-103+814=	NM_001387811.1:c.-103+818dup
MBNL1 transcript variant 82	NM_001387812.1:c.-103+814=	NM_001387812.1:c.-103+818dup
MBNL1 transcript variant 83	NM_001387813.1:c.-103+39120=	NM_001387813.1:c.-103+39124dup
MBNL1 transcript variant 84	NM_001387814.1:c.-103+814=	NM_001387814.1:c.-103+818dup
MBNL1 transcript variant 85	NM_001387815.1:c.-103+814=	NM_001387815.1:c.-103+818dup
MBNL1 transcript variant 86	NM_001387816.1:c.-103+69709=	NM_001387816.1:c.-103+69713dup
MBNL1 transcript variant 87	NM_001387817.1:c.-103+814=	NM_001387817.1:c.-103+818dup
MBNL1 transcript variant 88	NM_001387818.1:c.-103+39120=	NM_001387818.1:c.-103+39124dup
MBNL1 transcript variant 89	NM_001387819.1:c.174+39120=	NM_001387819.1:c.174+39124dup
MBNL1 transcript variant 90	NM_001387820.1:c.174+39120=	NM_001387820.1:c.174+39124dup
MBNL1 transcript variant 91	NM_001387821.1:c.-3-93230=	NM_001387821.1:c.-3-93226dup
MBNL1 transcript variant 92	NM_001387822.1:c.-102-75454=	NM_001387822.1:c.-102-75450dup
MBNL1 transcript variant 93	NM_001387823.1:c.-103+70395=	NM_001387823.1:c.-103+70399dup
MBNL1 transcript variant 94	NM_001387824.1:c.-103+70080=	NM_001387824.1:c.-103+70084dup
MBNL1 transcript variant 95	NM_001387825.1:c.-103+70395=	NM_001387825.1:c.-103+70399dup
MBNL1 transcript variant 96	NM_001387826.1:c.-103+70080=	NM_001387826.1:c.-103+70084dup
MBNL1 transcript variant 97	NM_001387827.1:c.-103+39120=	NM_001387827.1:c.-103+39124dup
MBNL1 transcript variant 98	NM_001387828.1:c.-103+70395=	NM_001387828.1:c.-103+70399dup
MBNL1 transcript variant 99	NM_001387829.1:c.-103+70080=	NM_001387829.1:c.-103+70084dup
MBNL1 transcript variant 100	NM_001387830.1:c.-103+70395=	NM_001387830.1:c.-103+70399dup
MBNL1 transcript variant 101	NM_001387831.1:c.-102-75454=	NM_001387831.1:c.-102-75450dup
MBNL1 transcript variant 102	NM_001387832.1:c.-103+70395=	NM_001387832.1:c.-103+70399dup
MBNL1 transcript variant 103	NM_001387833.1:c.-103+70080=	NM_001387833.1:c.-103+70084dup
MBNL1 transcript variant 104	NM_001387834.1:c.-79+70395=	NM_001387834.1:c.-79+70399dup
MBNL1 transcript variant 1	NM_021038.3:c.174+39120=	NM_021038.3:c.174+39124dup
MBNL1 transcript variant 1	NM_021038.5:c.174+39120=	NM_021038.5:c.174+39124dup
MBNL1 transcript variant 2	NM_207292.1:c.174+39120=	NM_207292.1:c.174+39124dup
MBNL1 transcript variant 2	NM_207292.3:c.174+39120=	NM_207292.3:c.174+39124dup
MBNL1 transcript variant 3	NM_207293.1:c.174+39120=	NM_207293.1:c.174+39124dup
MBNL1 transcript variant 3	NM_207293.2:c.174+39120=	NM_207293.2:c.174+39124dup
MBNL1 transcript variant 4	NM_207294.1:c.174+39120=	NM_207294.1:c.174+39124dup
MBNL1 transcript variant 4	NM_207294.2:c.174+39120=	NM_207294.2:c.174+39124dup
MBNL1 transcript variant 5	NM_207295.1:c.174+39120=	NM_207295.1:c.174+39124dup
MBNL1 transcript variant 5	NM_207295.2:c.174+39120=	NM_207295.2:c.174+39124dup
MBNL1 transcript variant 6	NM_207296.1:c.174+39120=	NM_207296.1:c.174+39124dup
MBNL1 transcript variant 6	NM_207296.2:c.174+39120=	NM_207296.2:c.174+39124dup
MBNL1 transcript variant 7	NM_207297.1:c.174+39120=	NM_207297.1:c.174+39124dup
MBNL1 transcript variant 7	NM_207297.2:c.174+39120=	NM_207297.2:c.174+39124dup
MBNL1 transcript variant X1	XM_005247457.1:c.267+38514=	XM_005247457.1:c.267+38518dup
MBNL1 transcript variant X2	XM_005247458.1:c.267+38514=	XM_005247458.1:c.267+38518dup
MBNL1 transcript variant X1	XM_005247458.6:c.267+38514=	XM_005247458.6:c.267+38518dup
MBNL1 transcript variant X3	XM_005247459.1:c.267+38514=	XM_005247459.1:c.267+38518dup
MBNL1 transcript variant X4	XM_005247460.1:c.267+38514=	XM_005247460.1:c.267+38518dup
MBNL1 transcript variant X5	XM_005247461.1:c.267+38514=	XM_005247461.1:c.267+38518dup
MBNL1 transcript variant X2	XM_005247461.5:c.267+38514=	XM_005247461.5:c.267+38518dup
MBNL1 transcript variant X6	XM_005247462.1:c.267+38514=	XM_005247462.1:c.267+38518dup
MBNL1 transcript variant X7	XM_005247463.1:c.267+38514=	XM_005247463.1:c.267+38518dup
MBNL1 transcript variant X8	XM_005247464.1:c.174+39120=	XM_005247464.1:c.174+39124dup
MBNL1 transcript variant X9	XM_005247465.1:c.267+38514=	XM_005247465.1:c.267+38518dup
MBNL1 transcript variant X10	XM_005247466.1:c.174+39120=	XM_005247466.1:c.174+39124dup
MBNL1 transcript variant X11	XM_005247467.1:c.267+38514=	XM_005247467.1:c.267+38518dup
MBNL1 transcript variant X12	XM_005247468.1:c.267+38514=	XM_005247468.1:c.267+38518dup
MBNL1 transcript variant X13	XM_005247469.1:c.6+4257=	XM_005247469.1:c.6+4261dup
MBNL1 transcript variant X15	XM_005247471.1:c.174+39120=	XM_005247471.1:c.174+39124dup
MBNL1 transcript variant X16	XM_005247472.1:c.-103+814=	XM_005247472.1:c.-103+818dup
MBNL1 transcript variant X17	XM_005247473.1:c.-103+814=	XM_005247473.1:c.-103+818dup
MBNL1 transcript variant X18	XM_005247474.1:c.-103+70395=	XM_005247474.1:c.-103+70399dup
MBNL1 transcript variant X19	XM_005247475.1:c.-102-75454=	XM_005247475.1:c.-102-75450dup
MBNL1 transcript variant X20	XM_005247476.1:c.-103+70395=	XM_005247476.1:c.-103+70399dup
MBNL1 transcript variant X21	XM_005247477.1:c.-103+70080=	XM_005247477.1:c.-103+70084dup
MBNL1 transcript variant X4	XM_047448135.1:c.174+39120=	XM_047448135.1:c.174+39124dup
MBNL1 transcript variant X5	XM_047448136.1:c.174+39120=	XM_047448136.1:c.174+39124dup
MBNL1 transcript variant X6	XM_047448137.1:c.174+39120=	XM_047448137.1:c.174+39124dup
MBNL1 transcript variant X7	XM_047448138.1:c.174+39120=	XM_047448138.1:c.174+39124dup
MBNL1 transcript variant X8	XM_047448139.1:c.174+39120=	XM_047448139.1:c.174+39124dup
MBNL1 transcript variant X9	XM_047448140.1:c.6+4257=	XM_047448140.1:c.6+4261dup
MBNL1 transcript variant X10	XM_047448141.1:c.174+39120=	XM_047448141.1:c.174+39124dup
MBNL1 transcript variant X11	XM_047448142.1:c.174+39120=	XM_047448142.1:c.174+39124dup
MBNL1 transcript variant X12	XM_047448143.1:c.6+4257=	XM_047448143.1:c.6+4261dup
MBNL1 transcript variant X13	XM_047448144.1:c.174+39120=	XM_047448144.1:c.174+39124dup
MBNL1 transcript variant X14	XM_047448145.1:c.174+39120=	XM_047448145.1:c.174+39124dup
MBNL1 transcript variant X15	XM_047448146.1:c.6+4257=	XM_047448146.1:c.6+4261dup
MBNL1 transcript variant X16	XM_047448147.1:c.174+39120=	XM_047448147.1:c.174+39124dup
MBNL1 transcript variant X17	XM_047448148.1:c.6+4257=	XM_047448148.1:c.6+4261dup
MBNL1 transcript variant X18	XM_047448149.1:c.6+4257=	XM_047448149.1:c.6+4261dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

1 SubSNP, 2 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss4083359265	Apr 26, 2021 (155)
2	gnomAD - Genomes	NC_000003.12 - 152339487	Apr 26, 2021 (155)
3	ALFA	NC_000003.12 - 152339487	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
128075084, ss4083359265	NC_000003.12:152339486::C	NC_000003.12:152339486:CCCCC:CCCCCC	(self)
8880514494	NC_000003.12:152339486:CCCCC:CCCCCC	NC_000003.12:152339486:CCCCC:CCCCCC	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2424431193	NC_000003.11:152057275::C	NC_000003.12:152339486:CCCCC:CCCCCC

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1491458588

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491458588