Canonical Allele Identifier: CA388023628

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513201C>T (hg19) ; chr13:g.51939065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939065C>T , CM000675.2:g.51939065C>T	GRCh38
NC_000013.10:g.52513201C>T , CM000675.1:g.52513201C>T	GRCh37
NC_000013.9:g.51411202C>T	NCBI36
NG_008806.1:g.77430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1335G>A	ENSP00000489512.2:n.*1335G>A
ENST00000673864.2:c.*2429G>A	ENSP00000501045.2:n.*2429G>A
ENST00000674147.2:c.3064G>A	ENSP00000500964.2:p.Ala1022Thr
ENST00000242839.10:c.3685G>A MANE Select	ENSP00000242839.5:p.Ala1229Thr
ENST00000344297.9:c.3064G>A	ENSP00000342559.5:p.Ala1022Thr
ENST00000400366.6:c.3352G>A	ENSP00000383217.3:p.Ala1118Thr
ENST00000448424.7:c.3433G>A	ENSP00000416738.3:p.Ala1145Thr
ENST00000673696.1:n.926G>A
ENST00000673772.1:c.3451G>A	ENSP00000501168.1:p.Ala1151Thr
ENST00000673867.1:n.3824G>A
ENST00000673923.1:n.551G>A
ENST00000674147.1:c.2620G>A	ENSP00000500964.1:p.Ala874Thr
ENST00000242839.8:c.3685G>A	ENSP00000242839.4:p.Ala1229Thr
ENST00000344297.8:c.3064G>A	ENSP00000342559.5:p.Ala1022Thr
ENST00000400366.5:c.3352G>A	ENSP00000383217.3:p.Ala1118Thr
ENST00000400370.8:c.2395G>A	ENSP00000383221.3:p.Ala799Thr
ENST00000418097.7:c.3490G>A	ENSP00000393343.2:p.Ala1164Thr
ENST00000448424.6:c.3451G>A	ENSP00000416738.2:p.Ala1151Thr
ENST00000634296.1:c.1463G>A
ENST00000634308.1:c.*786G>A	ENSP00000489234.1:n.*786G>A
ENST00000634620.1:n.4429G>A
ENST00000634810.1:n.3030G>A
ENST00000634844.1:c.3541G>A	ENSP00000489398.1:p.Ala1181Thr
NM_000053.3:c.3685G>A	NP_000044.2:p.Ala1229Thr
NM_001005918.2:c.3064G>A	NP_001005918.1:p.Ala1022Thr
NM_001243182.1:c.3352G>A	NP_001230111.1:p.Ala1118Thr
XM_005266423.2:c.3589G>A	XP_005266480.1:p.Ala1197Thr
XM_005266424.3:c.3589G>A	XP_005266481.1:p.Ala1197Thr
XM_005266427.2:c.3451G>A	XP_005266484.1:p.Ala1151Thr
XM_005266428.1:c.3433G>A	XP_005266485.1:p.Ala1145Thr
XM_005266430.3:c.3685G>A	XP_005266487.1:p.Ala1229Thr
XM_005266431.2:c.3649G>A	XP_005266488.1:p.Ala1217Thr
XM_005266432.2:c.3199G>A	XP_005266489.1:p.Ala1067Thr
XM_006719837.2:c.3589G>A	XP_006719900.1:p.Ala1197Thr
XM_006719838.1:c.1501G>A	XP_006719901.1:p.Ala501Thr
XM_006719839.1:c.1318G>A	XP_006719902.1:p.Ala440Thr
XM_011535117.1:c.3589G>A	XP_011533419.1:p.Ala1197Thr
XM_011535118.1:c.3550G>A	XP_011533420.1:p.Ala1184Thr
XM_011535119.1:c.3502G>A	XP_011533421.1:p.Ala1168Thr
XM_011535120.1:c.3271G>A	XP_011533422.1:p.Ala1091Thr
XM_011535121.1:c.3172G>A	XP_011533423.1:p.Ala1058Thr
XM_011535122.1:c.2353G>A	XP_011533424.1:p.Ala785Thr
XR_941601.1:n.3904G>A
XR_941602.1:n.3904G>A
XR_941603.1:n.3904G>A
XR_941604.1:n.3904G>A
NM_001330578.1:c.3451G>A	NP_001317507.1:p.Ala1151Thr
NM_001330579.1:c.3433G>A	NP_001317508.1:p.Ala1145Thr
XM_005266424.4:c.3589G>A	XP_005266481.1:p.Ala1197Thr
XM_005266430.4:c.3685G>A	XP_005266487.1:p.Ala1229Thr
XM_005266431.4:c.3649G>A	XP_005266488.1:p.Ala1217Thr
XM_006719837.3:c.3589G>A	XP_006719900.1:p.Ala1197Thr
XM_011535117.3:c.3589G>A	XP_011533419.1:p.Ala1197Thr
XM_017020627.1:c.3589G>A	XP_016876116.1:p.Ala1197Thr
NM_000053.4:c.3685G>A MANE Select	NP_000044.2:p.Ala1229Thr
NM_001005918.3:c.3064G>A	NP_001005918.1:p.Ala1022Thr
NM_001330579.2:c.3433G>A	NP_001317508.1:p.Ala1145Thr
NM_001243182.2:c.3352G>A	NP_001230111.1:p.Ala1118Thr
NM_001330578.2:c.3451G>A	NP_001317507.1:p.Ala1151Thr