Canonical Allele Identifier: CA388029982

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518300G>T (hg19) ; chr13:g.51944164G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944164G>T , CM000675.2:g.51944164G>T	GRCh38
NC_000013.10:g.52518300G>T , CM000675.1:g.52518300G>T	GRCh37
NC_000013.9:g.51416301G>T	NCBI36
NG_008806.1:g.72331C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1610C>A	ENSP00000489512.2:n.*894-1610C>A
ENST00000673864.2:c.*1932C>A	ENSP00000501045.2:n.*1932C>A
ENST00000674147.2:c.2567C>A	ENSP00000500964.2:p.Ala856Glu
ENST00000242839.10:c.3188C>A MANE Select	ENSP00000242839.5:p.Ala1063Glu
ENST00000344297.9:c.2567C>A	ENSP00000342559.5:p.Ala856Glu
ENST00000400366.6:c.2855C>A	ENSP00000383217.3:p.Ala952Glu
ENST00000448424.7:c.2936C>A	ENSP00000416738.3:p.Ala979Glu
ENST00000673772.1:c.2954C>A	ENSP00000501168.1:p.Ala985Glu
ENST00000673867.1:n.3327C>A
ENST00000674126.1:n.3551C>A
ENST00000674147.1:c.2123C>A	ENSP00000500964.1:p.Ala708Glu
ENST00000242839.8:c.3188C>A	ENSP00000242839.4:p.Ala1063Glu
ENST00000344297.8:c.2567C>A	ENSP00000342559.5:p.Ala856Glu
ENST00000400366.5:c.2855C>A	ENSP00000383217.3:p.Ala952Glu
ENST00000400370.8:c.1898C>A	ENSP00000383221.3:p.Ala633Glu
ENST00000418097.7:c.2993C>A	ENSP00000393343.2:p.Ala998Glu
ENST00000448424.6:c.2954C>A	ENSP00000416738.2:p.Ala985Glu
ENST00000466629.1:n.408C>A
ENST00000634296.1:c.1022-1610C>A
ENST00000634308.1:c.*289C>A	ENSP00000489234.1:n.*289C>A
ENST00000634620.1:n.3932C>A
ENST00000634810.1:n.2533C>A
ENST00000634844.1:c.3044C>A	ENSP00000489398.1:p.Ala1015Glu
NM_000053.3:c.3188C>A	NP_000044.2:p.Ala1063Glu
NM_001005918.2:c.2567C>A	NP_001005918.1:p.Ala856Glu
NM_001243182.1:c.2855C>A	NP_001230111.1:p.Ala952Glu
XM_005266423.2:c.3092C>A	XP_005266480.1:p.Ala1031Glu
XM_005266424.3:c.3092C>A	XP_005266481.1:p.Ala1031Glu
XM_005266427.2:c.2954C>A	XP_005266484.1:p.Ala985Glu
XM_005266428.1:c.2936C>A	XP_005266485.1:p.Ala979Glu
XM_005266430.3:c.3188C>A	XP_005266487.1:p.Ala1063Glu
XM_005266431.2:c.3152C>A	XP_005266488.1:p.Ala1051Glu
XM_005266432.2:c.2702C>A	XP_005266489.1:p.Ala901Glu
XM_006719837.2:c.3092C>A	XP_006719900.1:p.Ala1031Glu
XM_006719838.1:c.1004C>A	XP_006719901.1:p.Ala335Glu
XM_006719839.1:c.877-1610C>A	XP_006719902.1:n.877-1610C>A
XM_011535117.1:c.3092C>A	XP_011533419.1:p.Ala1031Glu
XM_011535118.1:c.3053C>A	XP_011533420.1:p.Ala1018Glu
XM_011535119.1:c.3061-1610C>A	XP_011533421.1:n.3061-1610C>A
XM_011535120.1:c.2774C>A	XP_011533422.1:p.Ala925Glu
XM_011535121.1:c.2731-1610C>A	XP_011533423.1:n.2731-1610C>A
XM_011535122.1:c.1856C>A	XP_011533424.1:p.Ala619Glu
XR_941601.1:n.3407C>A
XR_941602.1:n.3407C>A
XR_941603.1:n.3407C>A
XR_941604.1:n.3407C>A
NM_001330578.1:c.2954C>A	NP_001317507.1:p.Ala985Glu
NM_001330579.1:c.2936C>A	NP_001317508.1:p.Ala979Glu
XM_005266424.4:c.3092C>A	XP_005266481.1:p.Ala1031Glu
XM_005266430.4:c.3188C>A	XP_005266487.1:p.Ala1063Glu
XM_005266431.4:c.3152C>A	XP_005266488.1:p.Ala1051Glu
XM_006719837.3:c.3092C>A	XP_006719900.1:p.Ala1031Glu
XM_011535117.3:c.3092C>A	XP_011533419.1:p.Ala1031Glu
XM_017020627.1:c.3092C>A	XP_016876116.1:p.Ala1031Glu
NM_000053.4:c.3188C>A MANE Select	NP_000044.2:p.Ala1063Glu
NM_001005918.3:c.2567C>A	NP_001005918.1:p.Ala856Glu
NM_001330579.2:c.2936C>A	NP_001317508.1:p.Ala979Glu
NM_001243182.2:c.2855C>A	NP_001230111.1:p.Ala952Glu
NM_001330578.2:c.2954C>A	NP_001317507.1:p.Ala985Glu