Canonical Allele Identifier: CA483893093

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52509803C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935667C>T , CM000675.2:g.51935667C>T	GRCh38
NC_000013.10:g.52509803C>T , CM000675.1:g.52509803C>T	GRCh37
NC_000013.9:g.51407804C>T	NCBI36
NG_008806.1:g.80828G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1700G>A	ENSP00000489512.2:n.*1700G>A
ENST00000673864.2:c.*2794G>A	ENSP00000501045.2:n.*2794G>A
ENST00000674147.2:c.3429G>A	ENSP00000500964.2:p.Leu1143=
ENST00000242839.10:c.4050G>A MANE Select	ENSP00000242839.5:p.Leu1350=
ENST00000344297.9:c.3429G>A	ENSP00000342559.5:p.Leu1143=
ENST00000400366.6:c.3717G>A	ENSP00000383217.3:p.Leu1239=
ENST00000448424.7:c.3798G>A	ENSP00000416738.3:p.Leu1266=
ENST00000673696.1:n.1373G>A
ENST00000673772.1:c.3816G>A	ENSP00000501168.1:p.Leu1272=
ENST00000673867.1:n.4189G>A
ENST00000673923.1:n.916G>A
ENST00000674147.1:c.2985G>A	ENSP00000500964.1:p.Leu995=
ENST00000242839.8:c.4050G>A	ENSP00000242839.4:p.Leu1350=
ENST00000344297.8:c.3429G>A	ENSP00000342559.5:p.Leu1143=
ENST00000400366.5:c.3717G>A	ENSP00000383217.3:p.Leu1239=
ENST00000400370.8:c.2760G>A	ENSP00000383221.3:p.Leu920=
ENST00000418097.7:c.3855G>A	ENSP00000393343.2:p.Leu1285=
ENST00000448424.6:c.3816G>A	ENSP00000416738.2:p.Leu1272=
ENST00000634296.1:c.1828G>A
ENST00000634308.1:c.*1151G>A	ENSP00000489234.1:n.*1151G>A
ENST00000634620.1:n.4794G>A
ENST00000634810.1:n.3395G>A
ENST00000634844.1:c.3906G>A	ENSP00000489398.1:p.Leu1302=
NM_000053.3:c.4050G>A	NP_000044.2:p.Leu1350=
NM_001005918.2:c.3429G>A	NP_001005918.1:p.Leu1143=
NM_001243182.1:c.3717G>A	NP_001230111.1:p.Leu1239=
XM_005266423.2:c.3954G>A	XP_005266480.1:p.Leu1318=
XM_005266424.3:c.3954G>A	XP_005266481.1:p.Leu1318=
XM_005266427.2:c.3816G>A	XP_005266484.1:p.Leu1272=
XM_005266428.1:c.3798G>A	XP_005266485.1:p.Leu1266=
XM_005266430.3:c.4050G>A	XP_005266487.1:p.Leu1350=
XM_005266431.2:c.4014G>A	XP_005266488.1:p.Leu1338=
XM_005266432.2:c.3564G>A	XP_005266489.1:p.Leu1188=
XM_006719837.2:c.3954G>A	XP_006719900.1:p.Leu1318=
XM_006719838.1:c.1866G>A	XP_006719901.1:p.Leu622=
XM_006719839.1:c.1683G>A	XP_006719902.1:p.Leu561=
XM_011535117.1:c.3954G>A	XP_011533419.1:p.Leu1318=
XM_011535118.1:c.3915G>A	XP_011533420.1:p.Leu1305=
XM_011535119.1:c.3867G>A	XP_011533421.1:p.Leu1289=
XM_011535120.1:c.3636G>A	XP_011533422.1:p.Leu1212=
XM_011535121.1:c.3537G>A	XP_011533423.1:p.Leu1179=
XM_011535122.1:c.2718G>A	XP_011533424.1:p.Leu906=
XR_941601.1:n.4269G>A
XR_941602.1:n.4269G>A
XR_941603.1:n.4269G>A
XR_941604.1:n.4269G>A
NM_001330578.1:c.3816G>A	NP_001317507.1:p.Leu1272=
NM_001330579.1:c.3798G>A	NP_001317508.1:p.Leu1266=
XM_005266424.4:c.3954G>A	XP_005266481.1:p.Leu1318=
XM_005266430.4:c.4050G>A	XP_005266487.1:p.Leu1350=
XM_005266431.4:c.4014G>A	XP_005266488.1:p.Leu1338=
XM_006719837.3:c.3954G>A	XP_006719900.1:p.Leu1318=
XM_011535117.3:c.3954G>A	XP_011533419.1:p.Leu1318=
XM_017020627.1:c.3954G>A	XP_016876116.1:p.Leu1318=
NM_000053.4:c.4050G>A MANE Select	NP_000044.2:p.Leu1350=
NM_001005918.3:c.3429G>A	NP_001005918.1:p.Leu1143=
NM_001330579.2:c.3798G>A	NP_001317508.1:p.Leu1266=
NM_001243182.2:c.3717G>A	NP_001230111.1:p.Leu1239=
NM_001330578.2:c.3816G>A	NP_001317507.1:p.Leu1272=