Canonical Allele Identifier: CA388033379

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52523831A>T (hg19) ; chr13:g.51949695A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949695A>T , CM000675.2:g.51949695A>T	GRCh38
NC_000013.10:g.52523831A>T , CM000675.1:g.52523831A>T	GRCh37
NC_000013.9:g.51421832A>T	NCBI36
NG_008806.1:g.66800T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*665T>A	ENSP00000489512.2:n.*665T>A
ENST00000673864.2:c.*1576T>A	ENSP00000501045.2:n.*1576T>A
ENST00000674147.2:c.2244+312T>A	ENSP00000500964.2:n.2244+312T>A
ENST00000242839.10:c.2832T>A MANE Select	ENSP00000242839.5:p.Phe944Leu
ENST00000344297.9:c.2244+312T>A	ENSP00000342559.5:n.2244+312T>A
ENST00000400366.6:c.2499T>A	ENSP00000383217.3:p.Phe833Leu
ENST00000448424.7:c.2580T>A	ENSP00000416738.3:p.Phe860Leu
ENST00000673772.1:c.2598T>A	ENSP00000501168.1:p.Phe866Leu
ENST00000674126.1:n.12T>A
ENST00000674147.1:c.1800+312T>A	ENSP00000500964.1:n.1800+312T>A
ENST00000242839.8:c.2832T>A	ENSP00000242839.4:p.Phe944Leu
ENST00000344297.8:c.2244+312T>A	ENSP00000342559.5:n.2244+312T>A
ENST00000400366.5:c.2499T>A	ENSP00000383217.3:p.Phe833Leu
ENST00000400370.8:c.1542T>A	ENSP00000383221.3:p.Phe514Leu
ENST00000418097.7:c.2832T>A	ENSP00000393343.2:p.Phe944Leu
ENST00000448424.6:c.2598T>A	ENSP00000416738.2:p.Phe866Leu
ENST00000634296.1:c.793T>A
ENST00000634308.1:c.2598T>A	ENSP00000489234.1:p.Phe866Leu
ENST00000634620.1:n.3609+21T>A
ENST00000634810.1:n.2177T>A
ENST00000634844.1:c.2688T>A	ENSP00000489398.1:p.Phe896Leu
ENST00000635406.1:n.212-3217T>A
NM_000053.3:c.2832T>A	NP_000044.2:p.Phe944Leu
NM_001005918.2:c.2244+312T>A	NP_001005918.1:n.2244+312T>A
NM_001243182.1:c.2499T>A	NP_001230111.1:p.Phe833Leu
XM_005266423.2:c.2736T>A	XP_005266480.1:p.Phe912Leu
XM_005266424.3:c.2736T>A	XP_005266481.1:p.Phe912Leu
XM_005266427.2:c.2598T>A	XP_005266484.1:p.Phe866Leu
XM_005266428.1:c.2580T>A	XP_005266485.1:p.Phe860Leu
XM_005266430.3:c.2832T>A	XP_005266487.1:p.Phe944Leu
XM_005266431.2:c.2796T>A	XP_005266488.1:p.Phe932Leu
XM_005266432.2:c.2346T>A	XP_005266489.1:p.Phe782Leu
XM_006719837.2:c.2736T>A	XP_006719900.1:p.Phe912Leu
XM_006719838.1:c.648T>A	XP_006719901.1:p.Phe216Leu
XM_006719839.1:c.648T>A	XP_006719902.1:p.Phe216Leu
XM_011535117.1:c.2736T>A	XP_011533419.1:p.Phe912Leu
XM_011535118.1:c.2730+312T>A	XP_011533420.1:n.2730+312T>A
XM_011535119.1:c.2832T>A	XP_011533421.1:p.Phe944Leu
XM_011535120.1:c.2418T>A	XP_011533422.1:p.Phe806Leu
XM_011535121.1:c.2730+312T>A	XP_011533423.1:n.2730+312T>A
XM_011535122.1:c.1500T>A	XP_011533424.1:p.Phe500Leu
XR_941601.1:n.3051T>A
XR_941602.1:n.3051T>A
XR_941603.1:n.3051T>A
XR_941604.1:n.3051T>A
NM_001330578.1:c.2598T>A	NP_001317507.1:p.Phe866Leu
NM_001330579.1:c.2580T>A	NP_001317508.1:p.Phe860Leu
XM_005266424.4:c.2736T>A	XP_005266481.1:p.Phe912Leu
XM_005266430.4:c.2832T>A	XP_005266487.1:p.Phe944Leu
XM_005266431.4:c.2796T>A	XP_005266488.1:p.Phe932Leu
XM_006719837.3:c.2736T>A	XP_006719900.1:p.Phe912Leu
XM_011535117.3:c.2736T>A	XP_011533419.1:p.Phe912Leu
XM_017020627.1:c.2736T>A	XP_016876116.1:p.Phe912Leu
NM_000053.4:c.2832T>A MANE Select	NP_000044.2:p.Phe944Leu
NM_001005918.3:c.2244+312T>A	NP_001005918.1:n.2244+312T>A
NM_001330579.2:c.2580T>A	NP_001317508.1:p.Phe860Leu
NM_001243182.2:c.2499T>A	NP_001230111.1:p.Phe833Leu
NM_001330578.2:c.2598T>A	NP_001317507.1:p.Phe866Leu