Canonical Allele Identifier: CA6988617

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 928742
• ClinVar RCV Id: RCV001193091 ; RCV001833741
• dbSNP Id: rs745918596
• ExAC: 13:52513249 C / T
• gnomAD v2: 13-52513249-C-T
• gnomAD v3: 13-51939113-C-T
• gnomAD v4: 13-51939113-C-T
• COSMIC: COSM1677674
• MyVariant Identifiers: chr13:g.52513249C>T (hg19) ; chr13:g.51939113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939113C>T , CM000675.2:g.51939113C>T	GRCh38
NC_000013.10:g.52513249C>T , CM000675.1:g.52513249C>T	GRCh37
NC_000013.9:g.51411250C>T	NCBI36
NG_008806.1:g.77382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1287G>A	ENSP00000489512.2:n.*1287G>A
ENST00000673864.2:c.*2381G>A	ENSP00000501045.2:n.*2381G>A
ENST00000674147.2:c.3016G>A	ENSP00000500964.2:p.Gly1006Ser
ENST00000242839.10:c.3637G>A MANE Select	ENSP00000242839.5:p.Gly1213Ser
ENST00000344297.9:c.3016G>A	ENSP00000342559.5:p.Gly1006Ser
ENST00000400366.6:c.3304G>A	ENSP00000383217.3:p.Gly1102Ser
ENST00000448424.7:c.3385G>A	ENSP00000416738.3:p.Gly1129Ser
ENST00000673696.1:n.878G>A
ENST00000673772.1:c.3403G>A	ENSP00000501168.1:p.Gly1135Ser
ENST00000673867.1:n.3776G>A
ENST00000673923.1:n.503G>A
ENST00000674147.1:c.2572G>A	ENSP00000500964.1:p.Gly858Ser
ENST00000242839.8:c.3637G>A	ENSP00000242839.4:p.Gly1213Ser
ENST00000344297.8:c.3016G>A	ENSP00000342559.5:p.Gly1006Ser
ENST00000400366.5:c.3304G>A	ENSP00000383217.3:p.Gly1102Ser
ENST00000400370.8:c.2347G>A	ENSP00000383221.3:p.Gly783Ser
ENST00000418097.7:c.3442G>A	ENSP00000393343.2:p.Gly1148Ser
ENST00000448424.6:c.3403G>A	ENSP00000416738.2:p.Gly1135Ser
ENST00000634296.1:c.1415G>A
ENST00000634308.1:c.*738G>A	ENSP00000489234.1:n.*738G>A
ENST00000634620.1:n.4381G>A
ENST00000634810.1:n.2982G>A
ENST00000634844.1:c.3493G>A	ENSP00000489398.1:p.Gly1165Ser
NM_000053.3:c.3637G>A	NP_000044.2:p.Gly1213Ser
NM_001005918.2:c.3016G>A	NP_001005918.1:p.Gly1006Ser
NM_001243182.1:c.3304G>A	NP_001230111.1:p.Gly1102Ser
XM_005266423.2:c.3541G>A	XP_005266480.1:p.Gly1181Ser
XM_005266424.3:c.3541G>A	XP_005266481.1:p.Gly1181Ser
XM_005266427.2:c.3403G>A	XP_005266484.1:p.Gly1135Ser
XM_005266428.1:c.3385G>A	XP_005266485.1:p.Gly1129Ser
XM_005266430.3:c.3637G>A	XP_005266487.1:p.Gly1213Ser
XM_005266431.2:c.3601G>A	XP_005266488.1:p.Gly1201Ser
XM_005266432.2:c.3151G>A	XP_005266489.1:p.Gly1051Ser
XM_006719837.2:c.3541G>A	XP_006719900.1:p.Gly1181Ser
XM_006719838.1:c.1453G>A	XP_006719901.1:p.Gly485Ser
XM_006719839.1:c.1270G>A	XP_006719902.1:p.Gly424Ser
XM_011535117.1:c.3541G>A	XP_011533419.1:p.Gly1181Ser
XM_011535118.1:c.3502G>A	XP_011533420.1:p.Gly1168Ser
XM_011535119.1:c.3454G>A	XP_011533421.1:p.Gly1152Ser
XM_011535120.1:c.3223G>A	XP_011533422.1:p.Gly1075Ser
XM_011535121.1:c.3124G>A	XP_011533423.1:p.Gly1042Ser
XM_011535122.1:c.2305G>A	XP_011533424.1:p.Gly769Ser
XR_941601.1:n.3856G>A
XR_941602.1:n.3856G>A
XR_941603.1:n.3856G>A
XR_941604.1:n.3856G>A
NM_001330578.1:c.3403G>A	NP_001317507.1:p.Gly1135Ser
NM_001330579.1:c.3385G>A	NP_001317508.1:p.Gly1129Ser
XM_005266424.4:c.3541G>A	XP_005266481.1:p.Gly1181Ser
XM_005266430.4:c.3637G>A	XP_005266487.1:p.Gly1213Ser
XM_005266431.4:c.3601G>A	XP_005266488.1:p.Gly1201Ser
XM_006719837.3:c.3541G>A	XP_006719900.1:p.Gly1181Ser
XM_011535117.3:c.3541G>A	XP_011533419.1:p.Gly1181Ser
XM_017020627.1:c.3541G>A	XP_016876116.1:p.Gly1181Ser
NM_000053.4:c.3637G>A MANE Select	NP_000044.2:p.Gly1213Ser
NM_001005918.3:c.3016G>A	NP_001005918.1:p.Gly1006Ser
NM_001330579.2:c.3385G>A	NP_001317508.1:p.Gly1129Ser
NM_001243182.2:c.3304G>A	NP_001230111.1:p.Gly1102Ser
NM_001330578.2:c.3403G>A	NP_001317507.1:p.Gly1135Ser