dbSNP Short Genetic Variations
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.
rs1438135641
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:151238199-151238201 (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
- delC
- Variation Type
- Indel Insertion and Deletion
- Frequency
- delC=0.000004 (1/251422, GnomAD_exome)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- PIP5K1A : Frameshift Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
Help
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").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 251422 | CCC=0.999996 | delC=0.000004 |
| gnomAD - Exomes | European | Sub | 135352 | CCC=1.000000 | delC=0.000000 |
| gnomAD - Exomes | Asian | Sub | 49010 | CCC=0.99998 | delC=0.00002 |
| gnomAD - Exomes | American | Sub | 34588 | CCC=1.00000 | delC=0.00000 |
| gnomAD - Exomes | African | Sub | 16256 | CCC=1.00000 | delC=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | CCC=1.00000 | delC=0.00000 |
| gnomAD - Exomes | Other | Sub | 6136 | CCC=1.0000 | delC=0.0000 |
Help
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 1 | NC_000001.11:g.151238201del |
| GRCh37.p13 chr 1 | NC_000001.10:g.151210677del |
Gene: PIP5K1A, phosphatidylinositol-4-phosphate 5-kinase type 1 alpha
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PIP5K1A transcript variant 3 |
NM_001135636.2:c.1110-929… NM_001135636.2:c.1110-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant 1 | NM_001135638.2:c.1165del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 1 | NP_001129110.1:p.Arg389fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant 4 | NM_001135637.2:c.1126del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 4 | NP_001129109.1:p.Arg376fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant 2 | NM_003557.3:c.1126del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 2 | NP_003548.1:p.Arg376fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant 5 | NM_001330689.2:c.1129del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 5 | NP_001317618.1:p.Arg377fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X18 |
XM_047431673.1:c.1182-929… XM_047431673.1:c.1182-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant X21 |
XM_047431675.1:c.1146-929… XM_047431675.1:c.1146-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant X22 |
XM_047431677.1:c.1146-929… XM_047431677.1:c.1146-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant X23 |
XM_047431679.1:c.1143-929… XM_047431679.1:c.1143-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant X24 |
XM_047431681.1:c.1125-929… XM_047431681.1:c.1125-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant X28 |
XM_047431687.1:c.1107-929… XM_047431687.1:c.1107-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant X32 |
XM_047431701.1:c.1086-929… XM_047431701.1:c.1086-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant X33 |
XM_047431702.1:c.1083-929… XM_047431702.1:c.1083-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant X43 |
XM_047431726.1:c.1143-929… XM_047431726.1:c.1143-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant X44 |
XM_047431729.1:c.1110-929… XM_047431729.1:c.1110-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant X45 |
XM_047431730.1:c.1107-929… XM_047431730.1:c.1107-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant X46 |
XM_047431732.1:c.1083-929… XM_047431732.1:c.1083-929del |
N/A | Intron Variant |
| PIP5K1A transcript variant X1 | XM_006711563.5:c.1201del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X1 | XP_006711626.1:p.Arg401fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X2 | XM_005245525.6:c.1195del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X2 | XP_005245582.1:p.Arg399fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X3 | XM_047431635.1:c.1192del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X3 | XP_047287591.1:p.Arg398fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X4 | XM_047431638.1:c.1180del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X4 | XP_047287594.1:p.Arg394fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X5 | XM_006711568.5:c.1180del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X4 | XP_006711631.2:p.Arg394fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X6 | XM_024450129.2:c.1177del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X5 | XP_024305897.1:p.Arg393fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X7 | XM_006711564.5:c.1165del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X6 | XP_006711627.1:p.Arg389fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X8 | XM_005245527.5:c.1162del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X7 | XP_005245584.1:p.Arg388fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X9 | XM_005245528.6:c.1159del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X8 | XP_005245585.1:p.Arg387fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X10 | XM_047431651.1:c.1156del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X9 | XP_047287607.1:p.Arg386fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X11 | XM_011510043.4:c.1144del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X10 | XP_011508345.1:p.Arg382fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X12 | XM_047431657.1:c.1144del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X10 | XP_047287613.1:p.Arg382fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X13 | XM_047431658.1:c.1144del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X10 | XP_047287614.1:p.Arg382fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X14 | XM_024450130.2:c.1141del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X11 | XP_024305898.1:p.Arg381fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X15 | XM_005245530.6:c.1141del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X12 | XP_005245587.1:p.Arg381fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X16 | XM_047431670.1:c.1141del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X11 | XP_047287626.1:p.Arg381fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X17 | XM_011510045.4:c.1138del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X13 | XP_011508347.1:p.Arg380fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X19 | XM_005245532.5:c.1105del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X15 | XP_005245589.1:p.Arg369fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X20 | XM_011510046.4:c.1102del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X16 | XP_011508348.1:p.Arg368fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X25 | XM_047431682.1:c.1057del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X21 | XP_047287638.1:p.Arg353fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X26 | XM_011510049.4:c.1057del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X21 | XP_011508351.1:p.Arg353fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X27 | XM_006711567.5:c.1057del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X21 | XP_006711630.1:p.Arg353fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X29 | XM_024450131.2:c.1021del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X23 | XP_024305899.1:p.Arg341fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X30 | XM_047431694.1:c.1021del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X23 | XP_047287650.1:p.Arg341fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X31 | XM_047431698.1:c.1021del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X23 | XP_047287654.1:p.Arg341fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X34 | XM_047431703.1:c.1165del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X26 | XP_047287659.1:p.Arg389fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X35 | XM_047431704.1:c.1165del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X27 | XP_047287660.1:p.Arg389fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X36 | XM_047431706.1:c.1162del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X28 | XP_047287662.1:p.Arg388fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X37 | XM_047431709.1:c.1141del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X29 | XP_047287665.1:p.Arg381fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X38 | XM_047431710.1:c.1138del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X30 | XP_047287666.1:p.Arg380fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X39 | XM_017002439.2:c.1129del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X31 | XP_016857928.1:p.Arg377fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X40 | XM_017002440.2:c.1126del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X32 | XP_016857929.1:p.Arg376fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X41 | XM_047431712.1:c.1105del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X33 | XP_047287668.1:p.Arg369fs | R (Arg) > G (Gly) | Frameshift Variant |
| PIP5K1A transcript variant X42 | XM_047431720.1:c.1102del | R [CGG] > G [GG] | Coding Sequence Variant |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X34 | XP_047287676.1:p.Arg368fs | R (Arg) > G (Gly) | Frameshift Variant |
Help
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
Help
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 | CCC= | delC |
|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.151238199_151238201= | NC_000001.11:g.151238201del |
| GRCh37.p13 chr 1 | NC_000001.10:g.151210675_151210677= | NC_000001.10:g.151210677del |
| PIP5K1A transcript variant X15 | XM_005245530.6:c.1139_1141= | XM_005245530.6:c.1141del |
| PIP5K1A transcript variant X10 | XM_005245530.5:c.1139_1141= | XM_005245530.5:c.1141del |
| PIP5K1A transcript variant X8 | XM_005245530.4:c.1139_1141= | XM_005245530.4:c.1141del |
| PIP5K1A transcript variant X12 | XM_005245530.3:c.1139_1141= | XM_005245530.3:c.1141del |
| PIP5K1A transcript variant X6 | XM_005245530.2:c.1139_1141= | XM_005245530.2:c.1141del |
| PIP5K1A transcript variant X6 | XM_005245530.1:c.1139_1141= | XM_005245530.1:c.1141del |
| PIP5K1A transcript variant X2 | XM_005245525.6:c.1193_1195= | XM_005245525.6:c.1195del |
| PIP5K1A transcript variant X2 | XM_005245525.5:c.1193_1195= | XM_005245525.5:c.1195del |
| PIP5K1A transcript variant X2 | XM_005245525.4:c.1193_1195= | XM_005245525.4:c.1195del |
| PIP5K1A transcript variant X2 | XM_005245525.3:c.1193_1195= | XM_005245525.3:c.1195del |
| PIP5K1A transcript variant X1 | XM_005245525.2:c.1193_1195= | XM_005245525.2:c.1195del |
| PIP5K1A transcript variant X1 | XM_005245525.1:c.1193_1195= | XM_005245525.1:c.1195del |
| PIP5K1A transcript variant X9 | XM_005245528.6:c.1157_1159= | XM_005245528.6:c.1159del |
| PIP5K1A transcript variant X7 | XM_005245528.5:c.1157_1159= | XM_005245528.5:c.1159del |
| PIP5K1A transcript variant X6 | XM_005245528.4:c.1157_1159= | XM_005245528.4:c.1159del |
| PIP5K1A transcript variant X8 | XM_005245528.3:c.1157_1159= | XM_005245528.3:c.1159del |
| PIP5K1A transcript variant X4 | XM_005245528.2:c.1157_1159= | XM_005245528.2:c.1159del |
| PIP5K1A transcript variant X4 | XM_005245528.1:c.1157_1159= | XM_005245528.1:c.1159del |
| PIP5K1A transcript variant X19 | XM_005245532.5:c.1103_1105= | XM_005245532.5:c.1105del |
| PIP5K1A transcript variant X12 | XM_005245532.4:c.1103_1105= | XM_005245532.4:c.1105del |
| PIP5K1A transcript variant X11 | XM_005245532.3:c.1103_1105= | XM_005245532.3:c.1105del |
| PIP5K1A transcript variant X15 | XM_005245532.2:c.1103_1105= | XM_005245532.2:c.1105del |
| PIP5K1A transcript variant X8 | XM_005245532.1:c.1103_1105= | XM_005245532.1:c.1105del |
| PIP5K1A transcript variant X27 | XM_006711567.5:c.1055_1057= | XM_006711567.5:c.1057del |
| PIP5K1A transcript variant X19 | XM_006711567.4:c.1055_1057= | XM_006711567.4:c.1057del |
| PIP5K1A transcript variant X17 | XM_006711567.3:c.1055_1057= | XM_006711567.3:c.1057del |
| PIP5K1A transcript variant X19 | XM_006711567.2:c.1055_1057= | XM_006711567.2:c.1057del |
| PIP5K1A transcript variant X13 | XM_006711567.1:c.1055_1057= | XM_006711567.1:c.1057del |
| PIP5K1A transcript variant X1 | XM_006711563.5:c.1199_1201= | XM_006711563.5:c.1201del |
| PIP5K1A transcript variant X1 | XM_006711563.4:c.1199_1201= | XM_006711563.4:c.1201del |
| PIP5K1A transcript variant X1 | XM_006711563.3:c.1199_1201= | XM_006711563.3:c.1201del |
| PIP5K1A transcript variant X1 | XM_006711563.2:c.1199_1201= | XM_006711563.2:c.1201del |
| PIP5K1A transcript variant X9 | XM_006711563.1:c.1199_1201= | XM_006711563.1:c.1201del |
| PIP5K1A transcript variant X7 | XM_006711564.5:c.1163_1165= | XM_006711564.5:c.1165del |
| PIP5K1A transcript variant X5 | XM_006711564.4:c.1163_1165= | XM_006711564.4:c.1165del |
| PIP5K1A transcript variant X4 | XM_006711564.3:c.1163_1165= | XM_006711564.3:c.1165del |
| PIP5K1A transcript variant X6 | XM_006711564.2:c.1163_1165= | XM_006711564.2:c.1165del |
| PIP5K1A transcript variant X10 | XM_006711564.1:c.1163_1165= | XM_006711564.1:c.1165del |
| PIP5K1A transcript variant X8 | XM_005245527.5:c.1160_1162= | XM_005245527.5:c.1162del |
| PIP5K1A transcript variant X6 | XM_005245527.4:c.1160_1162= | XM_005245527.4:c.1162del |
| PIP5K1A transcript variant X5 | XM_005245527.3:c.1160_1162= | XM_005245527.3:c.1162del |
| PIP5K1A transcript variant X7 | XM_005245527.2:c.1160_1162= | XM_005245527.2:c.1162del |
| PIP5K1A transcript variant X3 | XM_005245527.1:c.1160_1162= | XM_005245527.1:c.1162del |
| PIP5K1A transcript variant X5 | XM_006711568.5:c.1178_1180= | XM_006711568.5:c.1180del |
| PIP5K1A transcript variant X3 | XM_006711568.4:c.1178_1180= | XM_006711568.4:c.1180del |
| PIP5K1A transcript variant X3 | XM_006711568.3:c.1178_1180= | XM_006711568.3:c.1180del |
| PIP5K1A transcript variant X4 | XM_006711568.2:c.1178_1180= | XM_006711568.2:c.1180del |
| PIP5K1A transcript variant X14 | XM_006711568.1:c.1055_1057= | XM_006711568.1:c.1057del |
| PIP5K1A transcript variant X17 | XM_011510045.4:c.1136_1138= | XM_011510045.4:c.1138del |
| PIP5K1A transcript variant X11 | XM_011510045.3:c.1136_1138= | XM_011510045.3:c.1138del |
| PIP5K1A transcript variant X9 | XM_011510045.2:c.1136_1138= | XM_011510045.2:c.1138del |
| PIP5K1A transcript variant X13 | XM_011510045.1:c.1136_1138= | XM_011510045.1:c.1138del |
| PIP5K1A transcript variant X20 | XM_011510046.4:c.1100_1102= | XM_011510046.4:c.1102del |
| PIP5K1A transcript variant X13 | XM_011510046.3:c.1100_1102= | XM_011510046.3:c.1102del |
| PIP5K1A transcript variant X12 | XM_011510046.2:c.1100_1102= | XM_011510046.2:c.1102del |
| PIP5K1A transcript variant X16 | XM_011510046.1:c.1100_1102= | XM_011510046.1:c.1102del |
| PIP5K1A transcript variant X26 | XM_011510049.4:c.1055_1057= | XM_011510049.4:c.1057del |
| PIP5K1A transcript variant X20 | XM_011510049.3:c.1055_1057= | XM_011510049.3:c.1057del |
| PIP5K1A transcript variant X18 | XM_011510049.2:c.1055_1057= | XM_011510049.2:c.1057del |
| PIP5K1A transcript variant X20 | XM_011510049.1:c.1055_1057= | XM_011510049.1:c.1057del |
| PIP5K1A transcript variant X11 | XM_011510043.4:c.1142_1144= | XM_011510043.4:c.1144del |
| PIP5K1A transcript variant X8 | XM_011510043.3:c.1142_1144= | XM_011510043.3:c.1144del |
| PIP5K1A transcript variant X7 | XM_011510043.2:c.1142_1144= | XM_011510043.2:c.1144del |
| PIP5K1A transcript variant X10 | XM_011510043.1:c.1142_1144= | XM_011510043.1:c.1144del |
| PIP5K1A transcript variant 2 | NM_003557.3:c.1124_1126= | NM_003557.3:c.1126del |
| PIP5K1A transcript variant 2 | NM_003557.2:c.1124_1126= | NM_003557.2:c.1126del |
| PIP5K1A transcript variant X29 | XM_024450131.2:c.1019_1021= | XM_024450131.2:c.1021del |
| PIP5K1A transcript variant X14 | XM_024450131.1:c.1019_1021= | XM_024450131.1:c.1021del |
| PIP5K1A transcript variant 1 | NM_001135638.2:c.1163_1165= | NM_001135638.2:c.1165del |
| PIP5K1A transcript variant 1 | NM_001135638.1:c.1163_1165= | NM_001135638.1:c.1165del |
| PIP5K1A transcript variant X6 | XM_024450129.2:c.1175_1177= | XM_024450129.2:c.1177del |
| PIP5K1A transcript variant X4 | XM_024450129.1:c.1175_1177= | XM_024450129.1:c.1177del |
| PIP5K1A transcript variant 5 | NM_001330689.2:c.1127_1129= | NM_001330689.2:c.1129del |
| PIP5K1A transcript variant 5 | NM_001330689.1:c.1127_1129= | NM_001330689.1:c.1129del |
| PIP5K1A transcript variant 4 | NM_001135637.2:c.1124_1126= | NM_001135637.2:c.1126del |
| PIP5K1A transcript variant 4 | NM_001135637.1:c.1124_1126= | NM_001135637.1:c.1126del |
| PIP5K1A transcript variant X14 | XM_024450130.2:c.1139_1141= | XM_024450130.2:c.1141del |
| PIP5K1A transcript variant X9 | XM_024450130.1:c.1139_1141= | XM_024450130.1:c.1141del |
| PIP5K1A transcript variant X39 | XM_017002439.2:c.1127_1129= | XM_017002439.2:c.1129del |
| PIP5K1A transcript variant X15 | XM_017002439.1:c.1127_1129= | XM_017002439.1:c.1129del |
| PIP5K1A transcript variant X40 | XM_017002440.2:c.1124_1126= | XM_017002440.2:c.1126del |
| PIP5K1A transcript variant X16 | XM_017002440.1:c.1124_1126= | XM_017002440.1:c.1126del |
| PIP5K1A transcript variant X25 | XM_047431682.1:c.1055_1057= | XM_047431682.1:c.1057del |
| PIP5K1A transcript variant X31 | XM_047431698.1:c.1019_1021= | XM_047431698.1:c.1021del |
| PIP5K1A transcript variant X30 | XM_047431694.1:c.1019_1021= | XM_047431694.1:c.1021del |
| PIP5K1A transcript variant X3 | XM_047431635.1:c.1190_1192= | XM_047431635.1:c.1192del |
| PIP5K1A transcript variant X10 | XM_047431651.1:c.1154_1156= | XM_047431651.1:c.1156del |
| PIP5K1A transcript variant X4 | XM_047431638.1:c.1178_1180= | XM_047431638.1:c.1180del |
| PIP5K1A transcript variant X13 | XM_047431658.1:c.1142_1144= | XM_047431658.1:c.1144del |
| PIP5K1A transcript variant X37 | XM_047431709.1:c.1139_1141= | XM_047431709.1:c.1141del |
| PIP5K1A transcript variant X38 | XM_047431710.1:c.1136_1138= | XM_047431710.1:c.1138del |
| PIP5K1A transcript variant X41 | XM_047431712.1:c.1103_1105= | XM_047431712.1:c.1105del |
| PIP5K1A transcript variant X42 | XM_047431720.1:c.1100_1102= | XM_047431720.1:c.1102del |
| PIP5K1A transcript variant X12 | XM_047431657.1:c.1142_1144= | XM_047431657.1:c.1144del |
| PIP5K1A transcript variant X16 | XM_047431670.1:c.1139_1141= | XM_047431670.1:c.1141del |
| PIP5K1A transcript variant X35 | XM_047431704.1:c.1163_1165= | XM_047431704.1:c.1165del |
| PIP5K1A transcript variant X34 | XM_047431703.1:c.1163_1165= | XM_047431703.1:c.1165del |
| PIP5K1A transcript variant X36 | XM_047431706.1:c.1160_1162= | XM_047431706.1:c.1162del |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X12 | XP_005245587.1:p.Ala380_Arg381= | XP_005245587.1:p.Arg381fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X2 | XP_005245582.1:p.Ala398_Arg399= | XP_005245582.1:p.Arg399fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X8 | XP_005245585.1:p.Ala386_Arg387= | XP_005245585.1:p.Arg387fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X15 | XP_005245589.1:p.Ala368_Arg369= | XP_005245589.1:p.Arg369fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X21 | XP_006711630.1:p.Ala352_Arg353= | XP_006711630.1:p.Arg353fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X1 | XP_006711626.1:p.Ala400_Arg401= | XP_006711626.1:p.Arg401fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X6 | XP_006711627.1:p.Ala388_Arg389= | XP_006711627.1:p.Arg389fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X7 | XP_005245584.1:p.Ala387_Arg388= | XP_005245584.1:p.Arg388fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X4 | XP_006711631.2:p.Ala393_Arg394= | XP_006711631.2:p.Arg394fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X13 | XP_011508347.1:p.Ala379_Arg380= | XP_011508347.1:p.Arg380fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X16 | XP_011508348.1:p.Ala367_Arg368= | XP_011508348.1:p.Arg368fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X21 | XP_011508351.1:p.Ala352_Arg353= | XP_011508351.1:p.Arg353fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X10 | XP_011508345.1:p.Ala381_Arg382= | XP_011508345.1:p.Arg382fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 2 | NP_003548.1:p.Ala375_Arg376= | NP_003548.1:p.Arg376fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X23 | XP_024305899.1:p.Ala340_Arg341= | XP_024305899.1:p.Arg341fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 1 | NP_001129110.1:p.Ala388_Arg389= | NP_001129110.1:p.Arg389fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X5 | XP_024305897.1:p.Ala392_Arg393= | XP_024305897.1:p.Arg393fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 5 | NP_001317618.1:p.Ala376_Arg377= | NP_001317618.1:p.Arg377fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 4 | NP_001129109.1:p.Ala375_Arg376= | NP_001129109.1:p.Arg376fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X11 | XP_024305898.1:p.Ala380_Arg381= | XP_024305898.1:p.Arg381fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X31 | XP_016857928.1:p.Ala376_Arg377= | XP_016857928.1:p.Arg377fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X32 | XP_016857929.1:p.Ala375_Arg376= | XP_016857929.1:p.Arg376fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X21 | XP_047287638.1:p.Ala352_Arg353= | XP_047287638.1:p.Arg353fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X23 | XP_047287654.1:p.Ala340_Arg341= | XP_047287654.1:p.Arg341fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X23 | XP_047287650.1:p.Ala340_Arg341= | XP_047287650.1:p.Arg341fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X3 | XP_047287591.1:p.Ala397_Arg398= | XP_047287591.1:p.Arg398fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X9 | XP_047287607.1:p.Ala385_Arg386= | XP_047287607.1:p.Arg386fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X4 | XP_047287594.1:p.Ala393_Arg394= | XP_047287594.1:p.Arg394fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X10 | XP_047287614.1:p.Ala381_Arg382= | XP_047287614.1:p.Arg382fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X29 | XP_047287665.1:p.Ala380_Arg381= | XP_047287665.1:p.Arg381fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X30 | XP_047287666.1:p.Ala379_Arg380= | XP_047287666.1:p.Arg380fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X33 | XP_047287668.1:p.Ala368_Arg369= | XP_047287668.1:p.Arg369fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X34 | XP_047287676.1:p.Ala367_Arg368= | XP_047287676.1:p.Arg368fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X10 | XP_047287613.1:p.Ala381_Arg382= | XP_047287613.1:p.Arg382fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X11 | XP_047287626.1:p.Ala380_Arg381= | XP_047287626.1:p.Arg381fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X27 | XP_047287660.1:p.Ala388_Arg389= | XP_047287660.1:p.Arg389fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X26 | XP_047287659.1:p.Ala388_Arg389= | XP_047287659.1:p.Arg389fs |
| phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X28 | XP_047287662.1:p.Ala387_Arg388= | XP_047287662.1:p.Arg388fs |
| PIP5K1A transcript variant 3 | NM_001135636.1:c.1110-931= | NM_001135636.1:c.1110-929del |
| PIP5K1A transcript variant 3 | NM_001135636.2:c.1110-931= | NM_001135636.2:c.1110-929del |
| PIP5K1A transcript variant X18 | XM_047431673.1:c.1182-931= | XM_047431673.1:c.1182-929del |
| PIP5K1A transcript variant X21 | XM_047431675.1:c.1146-931= | XM_047431675.1:c.1146-929del |
| PIP5K1A transcript variant X22 | XM_047431677.1:c.1146-931= | XM_047431677.1:c.1146-929del |
| PIP5K1A transcript variant X23 | XM_047431679.1:c.1143-931= | XM_047431679.1:c.1143-929del |
| PIP5K1A transcript variant X24 | XM_047431681.1:c.1125-931= | XM_047431681.1:c.1125-929del |
| PIP5K1A transcript variant X28 | XM_047431687.1:c.1107-931= | XM_047431687.1:c.1107-929del |
| PIP5K1A transcript variant X32 | XM_047431701.1:c.1086-931= | XM_047431701.1:c.1086-929del |
| PIP5K1A transcript variant X33 | XM_047431702.1:c.1083-931= | XM_047431702.1:c.1083-929del |
| PIP5K1A transcript variant X43 | XM_047431726.1:c.1143-931= | XM_047431726.1:c.1143-929del |
| PIP5K1A transcript variant X44 | XM_047431729.1:c.1110-931= | XM_047431729.1:c.1110-929del |
| PIP5K1A transcript variant X45 | XM_047431730.1:c.1107-931= | XM_047431730.1:c.1107-929del |
| PIP5K1A transcript variant X46 | XM_047431732.1:c.1083-931= | XM_047431732.1:c.1083-929del |
Help
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,
1 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2731835268 | Nov 08, 2017 (151) |
| 2 | gnomAD - Exomes | NC_000001.10 - 151210675 | Jul 12, 2019 (153) |
Help
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).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1438135641
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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
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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.
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.