Canonical Allele Identifier: CA6988625

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3074411
• ClinVar RCV Id: RCV004013945
• dbSNP Id: rs778719442
• ExAC: 13:52513281 G / A
• gnomAD v2: 13-52513281-G-A
• gnomAD v4: 13-51939145-G-A
• MyVariant Identifiers: chr13:g.52513281G>A (hg19) ; chr13:g.51939145G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939145G>A , CM000675.2:g.51939145G>A	GRCh38
NC_000013.10:g.52513281G>A , CM000675.1:g.52513281G>A	GRCh37
NC_000013.9:g.51411282G>A	NCBI36
NG_008806.1:g.77350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1255C>T	ENSP00000489512.2:n.*1255C>T
ENST00000673864.2:c.*2349C>T	ENSP00000501045.2:n.*2349C>T
ENST00000674147.2:c.2984C>T	ENSP00000500964.2:p.Ala995Val
ENST00000242839.10:c.3605C>T MANE Select	ENSP00000242839.5:p.Ala1202Val
ENST00000344297.9:c.2984C>T	ENSP00000342559.5:p.Ala995Val
ENST00000400366.6:c.3272C>T	ENSP00000383217.3:p.Ala1091Val
ENST00000448424.7:c.3353C>T	ENSP00000416738.3:p.Ala1118Val
ENST00000673696.1:n.846C>T
ENST00000673772.1:c.3371C>T	ENSP00000501168.1:p.Ala1124Val
ENST00000673867.1:n.3744C>T
ENST00000673923.1:n.471C>T
ENST00000674147.1:c.2540C>T	ENSP00000500964.1:p.Ala847Val
ENST00000242839.8:c.3605C>T	ENSP00000242839.4:p.Ala1202Val
ENST00000344297.8:c.2984C>T	ENSP00000342559.5:p.Ala995Val
ENST00000400366.5:c.3272C>T	ENSP00000383217.3:p.Ala1091Val
ENST00000400370.8:c.2315C>T	ENSP00000383221.3:p.Ala772Val
ENST00000418097.7:c.3410C>T	ENSP00000393343.2:p.Ala1137Val
ENST00000448424.6:c.3371C>T	ENSP00000416738.2:p.Ala1124Val
ENST00000634296.1:c.1383C>T
ENST00000634308.1:c.*706C>T	ENSP00000489234.1:n.*706C>T
ENST00000634620.1:n.4349C>T
ENST00000634810.1:n.2950C>T
ENST00000634844.1:c.3461C>T	ENSP00000489398.1:p.Ala1154Val
NM_000053.3:c.3605C>T	NP_000044.2:p.Ala1202Val
NM_001005918.2:c.2984C>T	NP_001005918.1:p.Ala995Val
NM_001243182.1:c.3272C>T	NP_001230111.1:p.Ala1091Val
XM_005266423.2:c.3509C>T	XP_005266480.1:p.Ala1170Val
XM_005266424.3:c.3509C>T	XP_005266481.1:p.Ala1170Val
XM_005266427.2:c.3371C>T	XP_005266484.1:p.Ala1124Val
XM_005266428.1:c.3353C>T	XP_005266485.1:p.Ala1118Val
XM_005266430.3:c.3605C>T	XP_005266487.1:p.Ala1202Val
XM_005266431.2:c.3569C>T	XP_005266488.1:p.Ala1190Val
XM_005266432.2:c.3119C>T	XP_005266489.1:p.Ala1040Val
XM_006719837.2:c.3509C>T	XP_006719900.1:p.Ala1170Val
XM_006719838.1:c.1421C>T	XP_006719901.1:p.Ala474Val
XM_006719839.1:c.1238C>T	XP_006719902.1:p.Ala413Val
XM_011535117.1:c.3509C>T	XP_011533419.1:p.Ala1170Val
XM_011535118.1:c.3470C>T	XP_011533420.1:p.Ala1157Val
XM_011535119.1:c.3422C>T	XP_011533421.1:p.Ala1141Val
XM_011535120.1:c.3191C>T	XP_011533422.1:p.Ala1064Val
XM_011535121.1:c.3092C>T	XP_011533423.1:p.Ala1031Val
XM_011535122.1:c.2273C>T	XP_011533424.1:p.Ala758Val
XR_941601.1:n.3824C>T
XR_941602.1:n.3824C>T
XR_941603.1:n.3824C>T
XR_941604.1:n.3824C>T
NM_001330578.1:c.3371C>T	NP_001317507.1:p.Ala1124Val
NM_001330579.1:c.3353C>T	NP_001317508.1:p.Ala1118Val
XM_005266424.4:c.3509C>T	XP_005266481.1:p.Ala1170Val
XM_005266430.4:c.3605C>T	XP_005266487.1:p.Ala1202Val
XM_005266431.4:c.3569C>T	XP_005266488.1:p.Ala1190Val
XM_006719837.3:c.3509C>T	XP_006719900.1:p.Ala1170Val
XM_011535117.3:c.3509C>T	XP_011533419.1:p.Ala1170Val
XM_017020627.1:c.3509C>T	XP_016876116.1:p.Ala1170Val
NM_000053.4:c.3605C>T MANE Select	NP_000044.2:p.Ala1202Val
NM_001005918.3:c.2984C>T	NP_001005918.1:p.Ala995Val
NM_001330579.2:c.3353C>T	NP_001317508.1:p.Ala1118Val
NM_001243182.2:c.3272C>T	NP_001230111.1:p.Ala1091Val
NM_001330578.2:c.3371C>T	NP_001317507.1:p.Ala1124Val