Canonical Allele Identifier: CA388024320

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513282C>A (hg19) ; chr13:g.51939146C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939146C>A , CM000675.2:g.51939146C>A	GRCh38
NC_000013.10:g.52513282C>A , CM000675.1:g.52513282C>A	GRCh37
NC_000013.9:g.51411283C>A	NCBI36
NG_008806.1:g.77349G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1254G>T	ENSP00000489512.2:n.*1254G>T
ENST00000673864.2:c.*2348G>T	ENSP00000501045.2:n.*2348G>T
ENST00000674147.2:c.2983G>T	ENSP00000500964.2:p.Ala995Ser
ENST00000242839.10:c.3604G>T MANE Select	ENSP00000242839.5:p.Ala1202Ser
ENST00000344297.9:c.2983G>T	ENSP00000342559.5:p.Ala995Ser
ENST00000400366.6:c.3271G>T	ENSP00000383217.3:p.Ala1091Ser
ENST00000448424.7:c.3352G>T	ENSP00000416738.3:p.Ala1118Ser
ENST00000673696.1:n.845G>T
ENST00000673772.1:c.3370G>T	ENSP00000501168.1:p.Ala1124Ser
ENST00000673867.1:n.3743G>T
ENST00000673923.1:n.470G>T
ENST00000674147.1:c.2539G>T	ENSP00000500964.1:p.Ala847Ser
ENST00000242839.8:c.3604G>T	ENSP00000242839.4:p.Ala1202Ser
ENST00000344297.8:c.2983G>T	ENSP00000342559.5:p.Ala995Ser
ENST00000400366.5:c.3271G>T	ENSP00000383217.3:p.Ala1091Ser
ENST00000400370.8:c.2314G>T	ENSP00000383221.3:p.Ala772Ser
ENST00000418097.7:c.3409G>T	ENSP00000393343.2:p.Ala1137Ser
ENST00000448424.6:c.3370G>T	ENSP00000416738.2:p.Ala1124Ser
ENST00000634296.1:c.1382G>T
ENST00000634308.1:c.*705G>T	ENSP00000489234.1:n.*705G>T
ENST00000634620.1:n.4348G>T
ENST00000634810.1:n.2949G>T
ENST00000634844.1:c.3460G>T	ENSP00000489398.1:p.Ala1154Ser
NM_000053.3:c.3604G>T	NP_000044.2:p.Ala1202Ser
NM_001005918.2:c.2983G>T	NP_001005918.1:p.Ala995Ser
NM_001243182.1:c.3271G>T	NP_001230111.1:p.Ala1091Ser
XM_005266423.2:c.3508G>T	XP_005266480.1:p.Ala1170Ser
XM_005266424.3:c.3508G>T	XP_005266481.1:p.Ala1170Ser
XM_005266427.2:c.3370G>T	XP_005266484.1:p.Ala1124Ser
XM_005266428.1:c.3352G>T	XP_005266485.1:p.Ala1118Ser
XM_005266430.3:c.3604G>T	XP_005266487.1:p.Ala1202Ser
XM_005266431.2:c.3568G>T	XP_005266488.1:p.Ala1190Ser
XM_005266432.2:c.3118G>T	XP_005266489.1:p.Ala1040Ser
XM_006719837.2:c.3508G>T	XP_006719900.1:p.Ala1170Ser
XM_006719838.1:c.1420G>T	XP_006719901.1:p.Ala474Ser
XM_006719839.1:c.1237G>T	XP_006719902.1:p.Ala413Ser
XM_011535117.1:c.3508G>T	XP_011533419.1:p.Ala1170Ser
XM_011535118.1:c.3469G>T	XP_011533420.1:p.Ala1157Ser
XM_011535119.1:c.3421G>T	XP_011533421.1:p.Ala1141Ser
XM_011535120.1:c.3190G>T	XP_011533422.1:p.Ala1064Ser
XM_011535121.1:c.3091G>T	XP_011533423.1:p.Ala1031Ser
XM_011535122.1:c.2272G>T	XP_011533424.1:p.Ala758Ser
XR_941601.1:n.3823G>T
XR_941602.1:n.3823G>T
XR_941603.1:n.3823G>T
XR_941604.1:n.3823G>T
NM_001330578.1:c.3370G>T	NP_001317507.1:p.Ala1124Ser
NM_001330579.1:c.3352G>T	NP_001317508.1:p.Ala1118Ser
XM_005266424.4:c.3508G>T	XP_005266481.1:p.Ala1170Ser
XM_005266430.4:c.3604G>T	XP_005266487.1:p.Ala1202Ser
XM_005266431.4:c.3568G>T	XP_005266488.1:p.Ala1190Ser
XM_006719837.3:c.3508G>T	XP_006719900.1:p.Ala1170Ser
XM_011535117.3:c.3508G>T	XP_011533419.1:p.Ala1170Ser
XM_017020627.1:c.3508G>T	XP_016876116.1:p.Ala1170Ser
NM_000053.4:c.3604G>T MANE Select	NP_000044.2:p.Ala1202Ser
NM_001005918.3:c.2983G>T	NP_001005918.1:p.Ala995Ser
NM_001330579.2:c.3352G>T	NP_001317508.1:p.Ala1118Ser
NM_001243182.2:c.3271G>T	NP_001230111.1:p.Ala1091Ser
NM_001330578.2:c.3370G>T	NP_001317507.1:p.Ala1124Ser