Canonical Allele Identifier: CA388026541

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515310T>A (hg19) ; chr13:g.51941174T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941174T>A , CM000675.2:g.51941174T>A	GRCh38
NC_000013.10:g.52515310T>A , CM000675.1:g.52515310T>A	GRCh37
NC_000013.9:g.51413311T>A	NCBI36
NG_008806.1:g.75321A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1113A>T	ENSP00000489512.2:n.*1113A>T
ENST00000673864.2:c.*2207A>T	ENSP00000501045.2:n.*2207A>T
ENST00000674147.2:c.2842A>T	ENSP00000500964.2:p.Arg948Trp
ENST00000242839.10:c.3463A>T MANE Select	ENSP00000242839.5:p.Arg1155Trp
ENST00000344297.9:c.2842A>T	ENSP00000342559.5:p.Arg948Trp
ENST00000400366.6:c.3130A>T	ENSP00000383217.3:p.Arg1044Trp
ENST00000448424.7:c.3211A>T	ENSP00000416738.3:p.Arg1071Trp
ENST00000673772.1:c.3229A>T	ENSP00000501168.1:p.Arg1077Trp
ENST00000673867.1:n.3602A>T
ENST00000674126.1:n.3826A>T
ENST00000674147.1:c.2398A>T	ENSP00000500964.1:p.Arg800Trp
ENST00000242839.8:c.3463A>T	ENSP00000242839.4:p.Arg1155Trp
ENST00000344297.8:c.2842A>T	ENSP00000342559.5:p.Arg948Trp
ENST00000400366.5:c.3130A>T	ENSP00000383217.3:p.Arg1044Trp
ENST00000400370.8:c.2173A>T	ENSP00000383221.3:p.Arg725Trp
ENST00000418097.7:c.3268A>T	ENSP00000393343.2:p.Arg1090Trp
ENST00000448424.6:c.3229A>T	ENSP00000416738.2:p.Arg1077Trp
ENST00000634296.1:c.1241A>T
ENST00000634308.1:c.*564A>T	ENSP00000489234.1:n.*564A>T
ENST00000634620.1:n.4207A>T
ENST00000634810.1:n.2808A>T
ENST00000634844.1:c.3319A>T	ENSP00000489398.1:p.Arg1107Trp
NM_000053.3:c.3463A>T	NP_000044.2:p.Arg1155Trp
NM_001005918.2:c.2842A>T	NP_001005918.1:p.Arg948Trp
NM_001243182.1:c.3130A>T	NP_001230111.1:p.Arg1044Trp
XM_005266423.2:c.3367A>T	XP_005266480.1:p.Arg1123Trp
XM_005266424.3:c.3367A>T	XP_005266481.1:p.Arg1123Trp
XM_005266427.2:c.3229A>T	XP_005266484.1:p.Arg1077Trp
XM_005266428.1:c.3211A>T	XP_005266485.1:p.Arg1071Trp
XM_005266430.3:c.3463A>T	XP_005266487.1:p.Arg1155Trp
XM_005266431.2:c.3427A>T	XP_005266488.1:p.Arg1143Trp
XM_005266432.2:c.2977A>T	XP_005266489.1:p.Arg993Trp
XM_006719837.2:c.3367A>T	XP_006719900.1:p.Arg1123Trp
XM_006719838.1:c.1279A>T	XP_006719901.1:p.Arg427Trp
XM_006719839.1:c.1096A>T	XP_006719902.1:p.Arg366Trp
XM_011535117.1:c.3367A>T	XP_011533419.1:p.Arg1123Trp
XM_011535118.1:c.3328A>T	XP_011533420.1:p.Arg1110Trp
XM_011535119.1:c.3280A>T	XP_011533421.1:p.Arg1094Trp
XM_011535120.1:c.3049A>T	XP_011533422.1:p.Arg1017Trp
XM_011535121.1:c.2950A>T	XP_011533423.1:p.Arg984Trp
XM_011535122.1:c.2131A>T	XP_011533424.1:p.Arg711Trp
XR_941601.1:n.3682A>T
XR_941602.1:n.3682A>T
XR_941603.1:n.3682A>T
XR_941604.1:n.3682A>T
NM_001330578.1:c.3229A>T	NP_001317507.1:p.Arg1077Trp
NM_001330579.1:c.3211A>T	NP_001317508.1:p.Arg1071Trp
XM_005266424.4:c.3367A>T	XP_005266481.1:p.Arg1123Trp
XM_005266430.4:c.3463A>T	XP_005266487.1:p.Arg1155Trp
XM_005266431.4:c.3427A>T	XP_005266488.1:p.Arg1143Trp
XM_006719837.3:c.3367A>T	XP_006719900.1:p.Arg1123Trp
XM_011535117.3:c.3367A>T	XP_011533419.1:p.Arg1123Trp
XM_017020627.1:c.3367A>T	XP_016876116.1:p.Arg1123Trp
NM_000053.4:c.3463A>T MANE Select	NP_000044.2:p.Arg1155Trp
NM_001005918.3:c.2842A>T	NP_001005918.1:p.Arg948Trp
NM_001330579.2:c.3211A>T	NP_001317508.1:p.Arg1071Trp
NM_001243182.2:c.3130A>T	NP_001230111.1:p.Arg1044Trp
NM_001330578.2:c.3229A>T	NP_001317507.1:p.Arg1077Trp