Canonical Allele Identifier: CA388019045

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52508962G>T (hg19) ; chr13:g.51934826G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934826G>T , CM000675.2:g.51934826G>T	GRCh38
NC_000013.10:g.52508962G>T , CM000675.1:g.52508962G>T	GRCh37
NC_000013.9:g.51406963G>T	NCBI36
NG_008806.1:g.81669C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1978C>A	ENSP00000489512.2:n.*1978C>A
ENST00000673864.2:c.*3072C>A	ENSP00000501045.2:n.*3072C>A
ENST00000674147.2:c.3707C>A	ENSP00000500964.2:p.Ala1236Asp
ENST00000242839.10:c.4328C>A MANE Select	ENSP00000242839.5:p.Ala1443Asp
ENST00000344297.9:c.3707C>A	ENSP00000342559.5:p.Ala1236Asp
ENST00000400366.6:c.3995C>A	ENSP00000383217.3:p.Ala1332Asp
ENST00000448424.7:c.4076C>A	ENSP00000416738.3:p.Ala1359Asp
ENST00000673696.1:n.1651C>A
ENST00000673772.1:c.4094C>A	ENSP00000501168.1:p.Ala1365Asp
ENST00000673867.1:n.4467C>A
ENST00000673923.1:n.1194C>A
ENST00000674147.1:c.3263C>A	ENSP00000500964.1:p.Ala1088Asp
ENST00000242839.8:c.4328C>A	ENSP00000242839.4:p.Ala1443Asp
ENST00000344297.8:c.3707C>A	ENSP00000342559.5:p.Ala1236Asp
ENST00000400366.5:c.3995C>A	ENSP00000383217.3:p.Ala1332Asp
ENST00000400370.8:c.3038C>A	ENSP00000383221.3:p.Ala1013Asp
ENST00000418097.7:c.4133C>A	ENSP00000393343.2:p.Ala1378Asp
ENST00000448424.6:c.4094C>A	ENSP00000416738.2:p.Ala1365Asp
ENST00000634296.1:c.2106C>A
ENST00000634308.1:c.*1429C>A	ENSP00000489234.1:n.*1429C>A
ENST00000634620.1:n.5072C>A
ENST00000634810.1:n.3673C>A
ENST00000634844.1:c.4184C>A	ENSP00000489398.1:p.Ala1395Asp
NM_000053.3:c.4328C>A	NP_000044.2:p.Ala1443Asp
NM_001005918.2:c.3707C>A	NP_001005918.1:p.Ala1236Asp
NM_001243182.1:c.3995C>A	NP_001230111.1:p.Ala1332Asp
XM_005266423.2:c.4232C>A	XP_005266480.1:p.Ala1411Asp
XM_005266424.3:c.4232C>A	XP_005266481.1:p.Ala1411Asp
XM_005266427.2:c.4094C>A	XP_005266484.1:p.Ala1365Asp
XM_005266428.1:c.4076C>A	XP_005266485.1:p.Ala1359Asp
XM_005266430.3:c.4328C>A	XP_005266487.1:p.Ala1443Asp
XM_005266431.2:c.4292C>A	XP_005266488.1:p.Ala1431Asp
XM_005266432.2:c.3842C>A	XP_005266489.1:p.Ala1281Asp
XM_006719837.2:c.4232C>A	XP_006719900.1:p.Ala1411Asp
XM_006719838.1:c.2144C>A	XP_006719901.1:p.Ala715Asp
XM_006719839.1:c.1961C>A	XP_006719902.1:p.Ala654Asp
XM_011535117.1:c.4232C>A	XP_011533419.1:p.Ala1411Asp
XM_011535118.1:c.4193C>A	XP_011533420.1:p.Ala1398Asp
XM_011535119.1:c.4145C>A	XP_011533421.1:p.Ala1382Asp
XM_011535120.1:c.3914C>A	XP_011533422.1:p.Ala1305Asp
XM_011535121.1:c.3815C>A	XP_011533423.1:p.Ala1272Asp
XM_011535122.1:c.2996C>A	XP_011533424.1:p.Ala999Asp
XR_941601.1:n.4547C>A
XR_941602.1:n.4547C>A
XR_941603.1:n.4547C>A
XR_941604.1:n.4547C>A
NM_001330578.1:c.4094C>A	NP_001317507.1:p.Ala1365Asp
NM_001330579.1:c.4076C>A	NP_001317508.1:p.Ala1359Asp
XM_005266424.4:c.4232C>A	XP_005266481.1:p.Ala1411Asp
XM_005266430.4:c.4328C>A	XP_005266487.1:p.Ala1443Asp
XM_005266431.4:c.4292C>A	XP_005266488.1:p.Ala1431Asp
XM_006719837.3:c.4232C>A	XP_006719900.1:p.Ala1411Asp
XM_011535117.3:c.4232C>A	XP_011533419.1:p.Ala1411Asp
XM_017020627.1:c.4232C>A	XP_016876116.1:p.Ala1411Asp
NM_000053.4:c.4328C>A MANE Select	NP_000044.2:p.Ala1443Asp
NM_001005918.3:c.3707C>A	NP_001005918.1:p.Ala1236Asp
NM_001330579.2:c.4076C>A	NP_001317508.1:p.Ala1359Asp
NM_001243182.2:c.3995C>A	NP_001230111.1:p.Ala1332Asp
NM_001330578.2:c.4094C>A	NP_001317507.1:p.Ala1365Asp