Canonical Allele Identifier: CA483894662

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944160-C-T
• MyVariant Identifiers: chr13:g.52518296C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944160C>T , CM000675.2:g.51944160C>T	GRCh38
NC_000013.10:g.52518296C>T , CM000675.1:g.52518296C>T	GRCh37
NC_000013.9:g.51416297C>T	NCBI36
NG_008806.1:g.72335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1606G>A	ENSP00000489512.2:n.*894-1606G>A
ENST00000673864.2:c.*1936G>A	ENSP00000501045.2:n.*1936G>A
ENST00000674147.2:c.2571G>A	ENSP00000500964.2:p.Glu857=
ENST00000242839.10:c.3192G>A MANE Select	ENSP00000242839.5:p.Glu1064=
ENST00000344297.9:c.2571G>A	ENSP00000342559.5:p.Glu857=
ENST00000400366.6:c.2859G>A	ENSP00000383217.3:p.Glu953=
ENST00000448424.7:c.2940G>A	ENSP00000416738.3:p.Glu980=
ENST00000673772.1:c.2958G>A	ENSP00000501168.1:p.Glu986=
ENST00000673867.1:n.3331G>A
ENST00000674126.1:n.3555G>A
ENST00000674147.1:c.2127G>A	ENSP00000500964.1:p.Glu709=
ENST00000242839.8:c.3192G>A	ENSP00000242839.4:p.Glu1064=
ENST00000344297.8:c.2571G>A	ENSP00000342559.5:p.Glu857=
ENST00000400366.5:c.2859G>A	ENSP00000383217.3:p.Glu953=
ENST00000400370.8:c.1902G>A	ENSP00000383221.3:p.Glu634=
ENST00000418097.7:c.2997G>A	ENSP00000393343.2:p.Glu999=
ENST00000448424.6:c.2958G>A	ENSP00000416738.2:p.Glu986=
ENST00000466629.1:n.412G>A
ENST00000634296.1:c.1022-1606G>A
ENST00000634308.1:c.*293G>A	ENSP00000489234.1:n.*293G>A
ENST00000634620.1:n.3936G>A
ENST00000634810.1:n.2537G>A
ENST00000634844.1:c.3048G>A	ENSP00000489398.1:p.Glu1016=
NM_000053.3:c.3192G>A	NP_000044.2:p.Glu1064=
NM_001005918.2:c.2571G>A	NP_001005918.1:p.Glu857=
NM_001243182.1:c.2859G>A	NP_001230111.1:p.Glu953=
XM_005266423.2:c.3096G>A	XP_005266480.1:p.Glu1032=
XM_005266424.3:c.3096G>A	XP_005266481.1:p.Glu1032=
XM_005266427.2:c.2958G>A	XP_005266484.1:p.Glu986=
XM_005266428.1:c.2940G>A	XP_005266485.1:p.Glu980=
XM_005266430.3:c.3192G>A	XP_005266487.1:p.Glu1064=
XM_005266431.2:c.3156G>A	XP_005266488.1:p.Glu1052=
XM_005266432.2:c.2706G>A	XP_005266489.1:p.Glu902=
XM_006719837.2:c.3096G>A	XP_006719900.1:p.Glu1032=
XM_006719838.1:c.1008G>A	XP_006719901.1:p.Glu336=
XM_006719839.1:c.877-1606G>A	XP_006719902.1:n.877-1606G>A
XM_011535117.1:c.3096G>A	XP_011533419.1:p.Glu1032=
XM_011535118.1:c.3057G>A	XP_011533420.1:p.Glu1019=
XM_011535119.1:c.3061-1606G>A	XP_011533421.1:n.3061-1606G>A
XM_011535120.1:c.2778G>A	XP_011533422.1:p.Glu926=
XM_011535121.1:c.2731-1606G>A	XP_011533423.1:n.2731-1606G>A
XM_011535122.1:c.1860G>A	XP_011533424.1:p.Glu620=
XR_941601.1:n.3411G>A
XR_941602.1:n.3411G>A
XR_941603.1:n.3411G>A
XR_941604.1:n.3411G>A
NM_001330578.1:c.2958G>A	NP_001317507.1:p.Glu986=
NM_001330579.1:c.2940G>A	NP_001317508.1:p.Glu980=
XM_005266424.4:c.3096G>A	XP_005266481.1:p.Glu1032=
XM_005266430.4:c.3192G>A	XP_005266487.1:p.Glu1064=
XM_005266431.4:c.3156G>A	XP_005266488.1:p.Glu1052=
XM_006719837.3:c.3096G>A	XP_006719900.1:p.Glu1032=
XM_011535117.3:c.3096G>A	XP_011533419.1:p.Glu1032=
XM_017020627.1:c.3096G>A	XP_016876116.1:p.Glu1032=
NM_000053.4:c.3192G>A MANE Select	NP_000044.2:p.Glu1064=
NM_001005918.3:c.2571G>A	NP_001005918.1:p.Glu857=
NM_001330579.2:c.2940G>A	NP_001317508.1:p.Glu980=
NM_001243182.2:c.2859G>A	NP_001230111.1:p.Glu953=
NM_001330578.2:c.2958G>A	NP_001317507.1:p.Glu986=