Canonical Allele Identifier: CA10587174

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 254761
• ClinVar RCV Id: RCV000252230
• dbSNP Id: rs886038218
• gnomAD v2: 13-52536007-C-T
• gnomAD v4: 13-51961871-C-T
• COSMIC: COSM1943090
• MyVariant Identifiers: chr13:g.52536007C>T (hg19) ; chr13:g.51961871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51961871C>T , CM000675.2:g.51961871C>T	GRCh38
NC_000013.10:g.52536007C>T , CM000675.1:g.52536007C>T	GRCh37
NC_000013.9:g.51434008C>T	NCBI36
NG_008806.1:g.54624G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1912G>A	ENSP00000489512.2:p.Ala638Thr
ENST00000673864.2:c.*656G>A	ENSP00000501045.2:n.*656G>A
ENST00000674147.2:c.1869+3001G>A	ENSP00000500964.2:n.1869+3001G>A
ENST00000242839.10:c.1912G>A MANE Select	ENSP00000242839.5:p.Ala638Thr
ENST00000344297.9:c.1869+3001G>A	ENSP00000342559.5:n.1869+3001G>A
ENST00000400366.6:c.1579G>A	ENSP00000383217.3:p.Ala527Thr
ENST00000448424.7:c.1869+3001G>A	ENSP00000416738.3:n.1869+3001G>A
ENST00000673772.1:c.1912G>A	ENSP00000501168.1:p.Ala638Thr
ENST00000674147.1:c.1425+3001G>A	ENSP00000500964.1:n.1425+3001G>A
ENST00000242839.8:c.1912G>A	ENSP00000242839.4:p.Ala638Thr
ENST00000344297.8:c.1869+3001G>A	ENSP00000342559.5:n.1869+3001G>A
ENST00000400366.5:c.1579G>A	ENSP00000383217.3:p.Ala527Thr
ENST00000400370.8:c.1286-11710G>A	ENSP00000383221.3:n.1286-11710G>A
ENST00000418097.7:c.1912G>A	ENSP00000393343.2:p.Ala638Thr
ENST00000448424.6:c.1912G>A	ENSP00000416738.2:p.Ala638Thr
ENST00000482841.6:n.1665-3327G>A
ENST00000634296.1:c.48G>A
ENST00000634308.1:c.1912G>A	ENSP00000489234.1:p.Ala638Thr
ENST00000634620.1:n.404G>A
ENST00000634844.1:c.1912G>A	ENSP00000489398.1:p.Ala638Thr
ENST00000635406.1:n.212-15393G>A
NM_000053.3:c.1912G>A	NP_000044.2:p.Ala638Thr
NM_001005918.2:c.1869+3001G>A	NP_001005918.1:n.1869+3001G>A
NM_001243182.1:c.1579G>A	NP_001230111.1:p.Ala527Thr
XM_005266423.2:c.1816G>A	XP_005266480.1:p.Ala606Thr
XM_005266424.3:c.1816G>A	XP_005266481.1:p.Ala606Thr
XM_005266427.2:c.1912G>A	XP_005266484.1:p.Ala638Thr
XM_005266428.1:c.1869+3001G>A	XP_005266485.1:n.1869+3001G>A
XM_005266430.3:c.1912G>A	XP_005266487.1:p.Ala638Thr
XM_005266431.2:c.1876G>A	XP_005266488.1:p.Ala626Thr
XM_005266432.2:c.1869+3001G>A	XP_005266489.1:n.1869+3001G>A
XM_006719837.2:c.1816G>A	XP_006719900.1:p.Ala606Thr
XM_006719838.1:c.-98G>A	XP_006719901.1:n.-98G>A
XM_006719839.1:c.-98G>A	XP_006719902.1:n.-98G>A
XM_011535117.1:c.1816G>A	XP_011533419.1:p.Ala606Thr
XM_011535118.1:c.1912G>A	XP_011533420.1:p.Ala638Thr
XM_011535119.1:c.1912G>A	XP_011533421.1:p.Ala638Thr
XM_011535120.1:c.1708-3327G>A	XP_011533422.1:n.1708-3327G>A
XM_011535121.1:c.1912G>A	XP_011533423.1:p.Ala638Thr
XM_011535122.1:c.580G>A	XP_011533424.1:p.Ala194Thr
XR_941601.1:n.2131G>A
XR_941602.1:n.2131G>A
XR_941603.1:n.2131G>A
XR_941604.1:n.2131G>A
NM_001330578.1:c.1912G>A	NP_001317507.1:p.Ala638Thr
NM_001330579.1:c.1869+3001G>A	NP_001317508.1:n.1869+3001G>A
XM_005266424.4:c.1816G>A	XP_005266481.1:p.Ala606Thr
XM_005266430.4:c.1912G>A	XP_005266487.1:p.Ala638Thr
XM_005266431.4:c.1876G>A	XP_005266488.1:p.Ala626Thr
XM_006719837.3:c.1816G>A	XP_006719900.1:p.Ala606Thr
XM_011535117.3:c.1816G>A	XP_011533419.1:p.Ala606Thr
XM_017020627.1:c.1816G>A	XP_016876116.1:p.Ala606Thr
NM_000053.4:c.1912G>A MANE Select	NP_000044.2:p.Ala638Thr
NM_001005918.3:c.1869+3001G>A	NP_001005918.1:n.1869+3001G>A
NM_001330579.2:c.1869+3001G>A	NP_001317508.1:n.1869+3001G>A
NM_001243182.2:c.1579G>A	NP_001230111.1:p.Ala527Thr
NM_001330578.2:c.1912G>A	NP_001317507.1:p.Ala638Thr