Canonical Allele Identifier: CA388028459

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942486G>T , CM000675.2:g.51942486G>T	GRCh38
NC_000013.10:g.52516622G>T , CM000675.1:g.52516622G>T	GRCh37
NC_000013.9:g.51414623G>T	NCBI36
NG_008806.1:g.74009C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.3312C>A MANE Select	NP_000044.2:p.Cys1104Ter
ENST00000242839.10:c.3312C>A MANE Select	ENSP00000242839.5:p.Cys1104Ter
NM_000053.3:c.3312C>A	NP_000044.2:p.Cys1104Ter
NM_001005918.2:c.2691C>A	NP_001005918.1:p.Cys897Ter
NM_001005918.3:c.2691C>A	NP_001005918.1:p.Cys897Ter
NM_001243182.1:c.2979C>A	NP_001230111.1:p.Cys993Ter
NM_001243182.2:c.2979C>A	NP_001230111.1:p.Cys993Ter
NM_001330578.1:c.3078C>A	NP_001317507.1:p.Cys1026Ter
NM_001330578.2:c.3078C>A	NP_001317507.1:p.Cys1026Ter
NM_001330579.1:c.3060C>A	NP_001317508.1:p.Cys1020Ter
NM_001330579.2:c.3060C>A	NP_001317508.1:p.Cys1020Ter
ENST00000242839.8:c.3312C>A	ENSP00000242839.4:p.Cys1104Ter
ENST00000344297.8:c.2691C>A	ENSP00000342559.5:p.Cys897Ter
ENST00000344297.9:c.2691C>A	ENSP00000342559.5:p.Cys897Ter
ENST00000400366.5:c.2979C>A	ENSP00000383217.3:p.Cys993Ter
ENST00000400366.6:c.2979C>A	ENSP00000383217.3:p.Cys993Ter
ENST00000400370.8:c.2022C>A	ENSP00000383221.3:p.Cys674Ter
ENST00000418097.7:c.3117C>A	ENSP00000393343.2:p.Cys1039Ter
ENST00000448424.6:c.3078C>A	ENSP00000416738.2:p.Cys1026Ter
ENST00000448424.7:c.3060C>A	ENSP00000416738.3:p.Cys1020Ter
ENST00000634296.1:c.1090C>A
ENST00000634296.2:c.*962C>A	ENSP00000489512.2:n.*962C>A
ENST00000634308.1:c.*413C>A	ENSP00000489234.1:n.*413C>A
ENST00000634620.1:n.4056C>A
ENST00000634810.1:n.2657C>A
ENST00000634844.1:c.3168C>A	ENSP00000489398.1:p.Cys1056Ter
ENST00000673772.1:c.3078C>A	ENSP00000501168.1:p.Cys1026Ter
ENST00000673864.2:c.*2056C>A	ENSP00000501045.2:n.*2056C>A
ENST00000673867.1:n.3451C>A
ENST00000674126.1:n.3675C>A
ENST00000674147.1:c.2247C>A	ENSP00000500964.1:p.Cys749Ter
ENST00000674147.2:c.2691C>A	ENSP00000500964.2:p.Cys897Ter
XM_005266423.2:c.3216C>A	XP_005266480.1:p.Cys1072Ter
XM_005266424.3:c.3216C>A	XP_005266481.1:p.Cys1072Ter
XM_005266424.4:c.3216C>A	XP_005266481.1:p.Cys1072Ter
XM_005266427.2:c.3078C>A	XP_005266484.1:p.Cys1026Ter
XM_005266428.1:c.3060C>A	XP_005266485.1:p.Cys1020Ter
XM_005266430.3:c.3312C>A	XP_005266487.1:p.Cys1104Ter
XM_005266430.4:c.3312C>A	XP_005266487.1:p.Cys1104Ter
XM_005266431.2:c.3276C>A	XP_005266488.1:p.Cys1092Ter
XM_005266431.4:c.3276C>A	XP_005266488.1:p.Cys1092Ter
XM_005266432.2:c.2826C>A	XP_005266489.1:p.Cys942Ter
XM_006719837.2:c.3216C>A	XP_006719900.1:p.Cys1072Ter
XM_006719837.3:c.3216C>A	XP_006719900.1:p.Cys1072Ter
XM_006719838.1:c.1128C>A	XP_006719901.1:p.Cys376Ter
XM_006719839.1:c.945C>A	XP_006719902.1:p.Cys315Ter
XM_011535117.1:c.3216C>A	XP_011533419.1:p.Cys1072Ter
XM_011535117.3:c.3216C>A	XP_011533419.1:p.Cys1072Ter
XM_011535118.1:c.3177C>A	XP_011533420.1:p.Cys1059Ter
XM_011535119.1:c.3129C>A	XP_011533421.1:p.Cys1043Ter
XM_011535120.1:c.2898C>A	XP_011533422.1:p.Cys966Ter
XM_011535121.1:c.2799C>A	XP_011533423.1:p.Cys933Ter
XM_011535122.1:c.1980C>A	XP_011533424.1:p.Cys660Ter
XM_017020627.1:c.3216C>A	XP_016876116.1:p.Cys1072Ter
XR_941601.1:n.3531C>A
XR_941602.1:n.3531C>A
XR_941603.1:n.3531C>A
XR_941604.1:n.3531C>A