SNP Links for Protein (Select 1034608935) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48007316 (GRCh38)
19:48510573 (GRCh37)
Canonical SPDI:: NC_000019.10:48007315:C:T
Gene:: ELSPBP1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.48007316C>T, NC_000019.9:g.48510573C>T, XM_017027130.2:c.93C>T, XM_017027130.1:c.93C>T, XM_047439213.1:c.93C>T

Select item 14675307766.

rs1467530776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48019816 (GRCh38)
19:48523073 (GRCh37)
Canonical SPDI:: NC_000019.10:48019815:C:T
Gene:: ELSPBP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48019816C>T, NC_000019.9:g.48523073C>T, NM_022142.5:c.453C>T, NM_022142.4:c.453C>T, XM_017027130.2:c.588C>T, XM_017027130.1:c.588C>T, XM_047439213.1:c.588C>T

Select item 14662052277.

rs1466205227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:48022300 (GRCh38)
19:48525557 (GRCh37)
Canonical SPDI:: NC_000019.10:48022299:C:A
Gene:: ELSPBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48022300C>A, NC_000019.9:g.48525557C>A, NM_022142.5:c.645C>A, NM_022142.4:c.645C>A, XM_017027130.2:c.780C>A, XM_017027130.1:c.780C>A, XM_047439213.1:c.780C>A, NP_071425.3:p.Asp215Glu, XP_016882619.1:p.Asp260Glu, XP_047295169.1:p.Asp260Glu

Select item 14648215638.

rs1464821563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:48019873 (GRCh38)
19:48523130 (GRCh37)
Canonical SPDI:: NC_000019.10:48019872:C:A
Gene:: ELSPBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48019873C>A, NC_000019.9:g.48523130C>A, NM_022142.5:c.510C>A, NM_022142.4:c.510C>A, XM_017027130.2:c.645C>A, XM_017027130.1:c.645C>A, XM_047439213.1:c.645C>A, NP_071425.3:p.Asp170Glu, XP_016882619.1:p.Asp215Glu, XP_047295169.1:p.Asp215Glu

Select item 14621103719.

rs1462110371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48007307 (GRCh38)
19:48510564 (GRCh37)
Canonical SPDI:: NC_000019.10:48007306:T:C
Gene:: ELSPBP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48007307T>C, NC_000019.9:g.48510564T>C, XM_017027130.2:c.84T>C, XM_017027130.1:c.84T>C, XM_047439213.1:c.84T>C

Select item 146075089510.

rs1460750895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48022293 (GRCh38)
19:48525550 (GRCh37)
Canonical SPDI:: NC_000019.10:48022292:A:G
Gene:: ELSPBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48022293A>G, NC_000019.9:g.48525550A>G, NM_022142.5:c.638A>G, NM_022142.4:c.638A>G, XM_017027130.2:c.773A>G, XM_017027130.1:c.773A>G, XM_047439213.1:c.773A>G, NP_071425.3:p.Asn213Ser, XP_016882619.1:p.Asn258Ser, XP_047295169.1:p.Asn258Ser

Select item 145746705911.

rs1457467059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48008735 (GRCh38)
19:48511992 (GRCh37)
Canonical SPDI:: NC_000019.10:48008734:G:A
Gene:: ELSPBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48008735G>A, NC_000019.9:g.48511992G>A, NM_022142.5:c.68G>A, NM_022142.4:c.68G>A, XM_017027130.2:c.203G>A, XM_017027130.1:c.203G>A, XM_047439213.1:c.203G>A, NP_071425.3:p.Gly23Glu, XP_016882619.1:p.Gly68Glu, XP_047295169.1:p.Gly68Glu

Select item 145695048012.

rs1456950480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48007253 (GRCh38)
19:48510510 (GRCh37)
Canonical SPDI:: NC_000019.10:48007252:G:A
Gene:: ELSPBP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48007253G>A, NC_000019.9:g.48510510G>A, XM_017027130.2:c.30G>A, XM_017027130.1:c.30G>A, XM_047439213.1:c.30G>A

Select item 145011025813.

rs1450110258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48008701 (GRCh38)
19:48511958 (GRCh37)
Canonical SPDI:: NC_000019.10:48008700:A:G
Gene:: ELSPBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.48008701A>G, NC_000019.9:g.48511958A>G, NM_022142.5:c.34A>G, NM_022142.4:c.34A>G, XM_017027130.2:c.169A>G, XM_017027130.1:c.169A>G, XM_047439213.1:c.169A>G, NP_071425.3:p.Thr12Ala, XP_016882619.1:p.Thr57Ala, XP_047295169.1:p.Thr57Ala

Select item 144539394214.

rs1445393942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48019819 (GRCh38)
19:48523076 (GRCh37)
Canonical SPDI:: NC_000019.10:48019818:G:A
Gene:: ELSPBP1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48019819G>A, NC_000019.9:g.48523076G>A, NM_022142.5:c.456G>A, NM_022142.4:c.456G>A, XM_017027130.2:c.591G>A, XM_017027130.1:c.591G>A, XM_047439213.1:c.591G>A, NP_071425.3:p.Trp152Ter, XP_016882619.1:p.Trp197Ter, XP_047295169.1:p.Trp197Ter

Select item 144455466315.

rs1444554663 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:48008684 (GRCh38)
19:48511941 (GRCh37)
Canonical SPDI:: NC_000019.10:48008683:G:
Gene:: ELSPBP1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48008684del, NC_000019.9:g.48511941del, NM_022142.5:c.17del, NM_022142.4:c.17del, XM_017027130.2:c.152del, XM_017027130.1:c.152del, XM_047439213.1:c.152del, NP_071425.3:p.Ser6fs, XP_016882619.1:p.Ser51fs, XP_047295169.1:p.Ser51fs

Select item 144328248916.

rs1443282489 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:48007268 (GRCh38)
19:48510525 (GRCh37)
Canonical SPDI:: NC_000019.10:48007267:T:
Gene:: ELSPBP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000064/9 (GnomAD)
-=0.000068/18 (TOPMED)
HGVS:: NC_000019.10:g.48007268del, NC_000019.9:g.48510525del, XM_017027130.2:c.45del, XM_017027130.1:c.45del, XM_047439213.1:c.45del, XP_016882619.1:p.Lys16fs, XP_047295169.1:p.Lys16fs

Select item 144061954117.

rs1440619541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:48007274 (GRCh38)
19:48510531 (GRCh37)
Canonical SPDI:: NC_000019.10:48007273:C:A
Gene:: ELSPBP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.48007274C>A, NC_000019.9:g.48510531C>A, XM_017027130.2:c.51C>A, XM_017027130.1:c.51C>A, XM_047439213.1:c.51C>A, XP_016882619.1:p.Asn17Lys, XP_047295169.1:p.Asn17Lys

Select item 144041158818.

rs1440411588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48007285 (GRCh38)
19:48510542 (GRCh37)
Canonical SPDI:: NC_000019.10:48007284:G:A
Gene:: ELSPBP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.48007285G>A, NC_000019.9:g.48510542G>A, XM_017027130.2:c.62G>A, XM_017027130.1:c.62G>A, XM_047439213.1:c.62G>A, XP_016882619.1:p.Ser21Asn, XP_047295169.1:p.Ser21Asn

Select item 143939264019.

rs1439392640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48008679 (GRCh38)
19:48511936 (GRCh37)
Canonical SPDI:: NC_000019.10:48008678:G:A
Gene:: ELSPBP1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48008679G>A, NC_000019.9:g.48511936G>A, NM_022142.5:c.12G>A, NM_022142.4:c.12G>A, XM_017027130.2:c.147G>A, XM_017027130.1:c.147G>A, XM_047439213.1:c.147G>A, NP_071425.3:p.Trp4Ter, XP_016882619.1:p.Trp49Ter, XP_047295169.1:p.Trp49Ter

Select item 143826893320.

rs1438268933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48022234 (GRCh38)
19:48525491 (GRCh37)
Canonical SPDI:: NC_000019.10:48022233:T:C
Gene:: ELSPBP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.48022234T>C, NC_000019.9:g.48525491T>C, NM_022142.5:c.579T>C, NM_022142.4:c.579T>C, XM_017027130.2:c.714T>C, XM_017027130.1:c.714T>C, XM_047439213.1:c.714T>C

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