Canonical Allele Identifier: CA388020848

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511435A>T (hg19) ; chr13:g.51937299A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937299A>T , CM000675.2:g.51937299A>T	GRCh38
NC_000013.10:g.52511435A>T , CM000675.1:g.52511435A>T	GRCh37
NC_000013.9:g.51409436A>T	NCBI36
NG_008806.1:g.79196T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1648T>A	ENSP00000489512.2:n.*1648T>A
ENST00000673864.2:c.*2742T>A	ENSP00000501045.2:n.*2742T>A
ENST00000674147.2:c.3377T>A	ENSP00000500964.2:p.Leu1126Gln
ENST00000242839.10:c.3998T>A MANE Select	ENSP00000242839.5:p.Leu1333Gln
ENST00000344297.9:c.3377T>A	ENSP00000342559.5:p.Leu1126Gln
ENST00000400366.6:c.3665T>A	ENSP00000383217.3:p.Leu1222Gln
ENST00000448424.7:c.3746T>A	ENSP00000416738.3:p.Leu1249Gln
ENST00000673696.1:n.1321T>A
ENST00000673772.1:c.3764T>A	ENSP00000501168.1:p.Leu1255Gln
ENST00000673867.1:n.4137T>A
ENST00000673923.1:n.864T>A
ENST00000674147.1:c.2933T>A	ENSP00000500964.1:p.Leu978Gln
ENST00000242839.8:c.3998T>A	ENSP00000242839.4:p.Leu1333Gln
ENST00000344297.8:c.3377T>A	ENSP00000342559.5:p.Leu1126Gln
ENST00000400366.5:c.3665T>A	ENSP00000383217.3:p.Leu1222Gln
ENST00000400370.8:c.2708T>A	ENSP00000383221.3:p.Leu903Gln
ENST00000418097.7:c.3803T>A	ENSP00000393343.2:p.Leu1268Gln
ENST00000448424.6:c.3764T>A	ENSP00000416738.2:p.Leu1255Gln
ENST00000634296.1:c.1776T>A
ENST00000634308.1:c.*1099T>A	ENSP00000489234.1:n.*1099T>A
ENST00000634620.1:n.4742T>A
ENST00000634810.1:n.3343T>A
ENST00000634844.1:c.3854T>A	ENSP00000489398.1:p.Leu1285Gln
NM_000053.3:c.3998T>A	NP_000044.2:p.Leu1333Gln
NM_001005918.2:c.3377T>A	NP_001005918.1:p.Leu1126Gln
NM_001243182.1:c.3665T>A	NP_001230111.1:p.Leu1222Gln
XM_005266423.2:c.3902T>A	XP_005266480.1:p.Leu1301Gln
XM_005266424.3:c.3902T>A	XP_005266481.1:p.Leu1301Gln
XM_005266427.2:c.3764T>A	XP_005266484.1:p.Leu1255Gln
XM_005266428.1:c.3746T>A	XP_005266485.1:p.Leu1249Gln
XM_005266430.3:c.3998T>A	XP_005266487.1:p.Leu1333Gln
XM_005266431.2:c.3962T>A	XP_005266488.1:p.Leu1321Gln
XM_005266432.2:c.3512T>A	XP_005266489.1:p.Leu1171Gln
XM_006719837.2:c.3902T>A	XP_006719900.1:p.Leu1301Gln
XM_006719838.1:c.1814T>A	XP_006719901.1:p.Leu605Gln
XM_006719839.1:c.1631T>A	XP_006719902.1:p.Leu544Gln
XM_011535117.1:c.3902T>A	XP_011533419.1:p.Leu1301Gln
XM_011535118.1:c.3863T>A	XP_011533420.1:p.Leu1288Gln
XM_011535119.1:c.3815T>A	XP_011533421.1:p.Leu1272Gln
XM_011535120.1:c.3584T>A	XP_011533422.1:p.Leu1195Gln
XM_011535121.1:c.3485T>A	XP_011533423.1:p.Leu1162Gln
XM_011535122.1:c.2666T>A	XP_011533424.1:p.Leu889Gln
XR_941601.1:n.4217T>A
XR_941602.1:n.4217T>A
XR_941603.1:n.4217T>A
XR_941604.1:n.4217T>A
NM_001330578.1:c.3764T>A	NP_001317507.1:p.Leu1255Gln
NM_001330579.1:c.3746T>A	NP_001317508.1:p.Leu1249Gln
XM_005266424.4:c.3902T>A	XP_005266481.1:p.Leu1301Gln
XM_005266430.4:c.3998T>A	XP_005266487.1:p.Leu1333Gln
XM_005266431.4:c.3962T>A	XP_005266488.1:p.Leu1321Gln
XM_006719837.3:c.3902T>A	XP_006719900.1:p.Leu1301Gln
XM_011535117.3:c.3902T>A	XP_011533419.1:p.Leu1301Gln
XM_017020627.1:c.3902T>A	XP_016876116.1:p.Leu1301Gln
NM_000053.4:c.3998T>A MANE Select	NP_000044.2:p.Leu1333Gln
NM_001005918.3:c.3377T>A	NP_001005918.1:p.Leu1126Gln
NM_001330579.2:c.3746T>A	NP_001317508.1:p.Leu1249Gln
NM_001243182.2:c.3665T>A	NP_001230111.1:p.Leu1222Gln
NM_001330578.2:c.3764T>A	NP_001317507.1:p.Leu1255Gln