Canonical Allele Identifier: CA388030036

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518315G>T (hg19) ; chr13:g.51944179G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944179G>T , CM000675.2:g.51944179G>T	GRCh38
NC_000013.10:g.52518315G>T , CM000675.1:g.52518315G>T	GRCh37
NC_000013.9:g.51416316G>T	NCBI36
NG_008806.1:g.72316C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1625C>A	ENSP00000489512.2:n.*894-1625C>A
ENST00000673864.2:c.*1917C>A	ENSP00000501045.2:n.*1917C>A
ENST00000674147.2:c.2552C>A	ENSP00000500964.2:p.Ala851Asp
ENST00000242839.10:c.3173C>A MANE Select	ENSP00000242839.5:p.Ala1058Asp
ENST00000344297.9:c.2552C>A	ENSP00000342559.5:p.Ala851Asp
ENST00000400366.6:c.2840C>A	ENSP00000383217.3:p.Ala947Asp
ENST00000448424.7:c.2921C>A	ENSP00000416738.3:p.Ala974Asp
ENST00000673772.1:c.2939C>A	ENSP00000501168.1:p.Ala980Asp
ENST00000673867.1:n.3312C>A
ENST00000674126.1:n.3536C>A
ENST00000674147.1:c.2108C>A	ENSP00000500964.1:p.Ala703Asp
ENST00000242839.8:c.3173C>A	ENSP00000242839.4:p.Ala1058Asp
ENST00000344297.8:c.2552C>A	ENSP00000342559.5:p.Ala851Asp
ENST00000400366.5:c.2840C>A	ENSP00000383217.3:p.Ala947Asp
ENST00000400370.8:c.1883C>A	ENSP00000383221.3:p.Ala628Asp
ENST00000418097.7:c.2978C>A	ENSP00000393343.2:p.Ala993Asp
ENST00000448424.6:c.2939C>A	ENSP00000416738.2:p.Ala980Asp
ENST00000466629.1:n.393C>A
ENST00000634296.1:c.1022-1625C>A
ENST00000634308.1:c.*274C>A	ENSP00000489234.1:n.*274C>A
ENST00000634620.1:n.3917C>A
ENST00000634810.1:n.2518C>A
ENST00000634844.1:c.3029C>A	ENSP00000489398.1:p.Ala1010Asp
NM_000053.3:c.3173C>A	NP_000044.2:p.Ala1058Asp
NM_001005918.2:c.2552C>A	NP_001005918.1:p.Ala851Asp
NM_001243182.1:c.2840C>A	NP_001230111.1:p.Ala947Asp
XM_005266423.2:c.3077C>A	XP_005266480.1:p.Ala1026Asp
XM_005266424.3:c.3077C>A	XP_005266481.1:p.Ala1026Asp
XM_005266427.2:c.2939C>A	XP_005266484.1:p.Ala980Asp
XM_005266428.1:c.2921C>A	XP_005266485.1:p.Ala974Asp
XM_005266430.3:c.3173C>A	XP_005266487.1:p.Ala1058Asp
XM_005266431.2:c.3137C>A	XP_005266488.1:p.Ala1046Asp
XM_005266432.2:c.2687C>A	XP_005266489.1:p.Ala896Asp
XM_006719837.2:c.3077C>A	XP_006719900.1:p.Ala1026Asp
XM_006719838.1:c.989C>A	XP_006719901.1:p.Ala330Asp
XM_006719839.1:c.877-1625C>A	XP_006719902.1:n.877-1625C>A
XM_011535117.1:c.3077C>A	XP_011533419.1:p.Ala1026Asp
XM_011535118.1:c.3038C>A	XP_011533420.1:p.Ala1013Asp
XM_011535119.1:c.3061-1625C>A	XP_011533421.1:n.3061-1625C>A
XM_011535120.1:c.2759C>A	XP_011533422.1:p.Ala920Asp
XM_011535121.1:c.2731-1625C>A	XP_011533423.1:n.2731-1625C>A
XM_011535122.1:c.1841C>A	XP_011533424.1:p.Ala614Asp
XR_941601.1:n.3392C>A
XR_941602.1:n.3392C>A
XR_941603.1:n.3392C>A
XR_941604.1:n.3392C>A
NM_001330578.1:c.2939C>A	NP_001317507.1:p.Ala980Asp
NM_001330579.1:c.2921C>A	NP_001317508.1:p.Ala974Asp
XM_005266424.4:c.3077C>A	XP_005266481.1:p.Ala1026Asp
XM_005266430.4:c.3173C>A	XP_005266487.1:p.Ala1058Asp
XM_005266431.4:c.3137C>A	XP_005266488.1:p.Ala1046Asp
XM_006719837.3:c.3077C>A	XP_006719900.1:p.Ala1026Asp
XM_011535117.3:c.3077C>A	XP_011533419.1:p.Ala1026Asp
XM_017020627.1:c.3077C>A	XP_016876116.1:p.Ala1026Asp
NM_000053.4:c.3173C>A MANE Select	NP_000044.2:p.Ala1058Asp
NM_001005918.3:c.2552C>A	NP_001005918.1:p.Ala851Asp
NM_001330579.2:c.2921C>A	NP_001317508.1:p.Ala974Asp
NM_001243182.2:c.2840C>A	NP_001230111.1:p.Ala947Asp
NM_001330578.2:c.2939C>A	NP_001317507.1:p.Ala980Asp