Canonical Allele Identifier: CA250077285

Gene: ATP7B

Linked Data

• dbSNP Id: rs893143787
• gnomAD v3: 13-51941174-T-C
• gnomAD v4: 13-51941174-T-C
• MyVariant Identifiers: chr13:g.52515310T>C (hg19) ; chr13:g.51941174T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1113A>G	ENSP00000489512.2:n.*1113A>G
ENST00000673864.2:c.*2207A>G	ENSP00000501045.2:n.*2207A>G
ENST00000674147.2:c.2842A>G	ENSP00000500964.2:p.Arg948Gly
ENST00000242839.10:c.3463A>G MANE Select	ENSP00000242839.5:p.Arg1155Gly
ENST00000344297.9:c.2842A>G	ENSP00000342559.5:p.Arg948Gly
ENST00000400366.6:c.3130A>G	ENSP00000383217.3:p.Arg1044Gly
ENST00000448424.7:c.3211A>G	ENSP00000416738.3:p.Arg1071Gly
ENST00000673772.1:c.3229A>G	ENSP00000501168.1:p.Arg1077Gly
ENST00000673867.1:n.3602A>G
ENST00000674126.1:n.3826A>G
ENST00000674147.1:c.2398A>G	ENSP00000500964.1:p.Arg800Gly
ENST00000242839.8:c.3463A>G	ENSP00000242839.4:p.Arg1155Gly
ENST00000344297.8:c.2842A>G	ENSP00000342559.5:p.Arg948Gly
ENST00000400366.5:c.3130A>G	ENSP00000383217.3:p.Arg1044Gly
ENST00000400370.8:c.2173A>G	ENSP00000383221.3:p.Arg725Gly
ENST00000418097.7:c.3268A>G	ENSP00000393343.2:p.Arg1090Gly
ENST00000448424.6:c.3229A>G	ENSP00000416738.2:p.Arg1077Gly
ENST00000634296.1:c.1241A>G
ENST00000634308.1:c.*564A>G	ENSP00000489234.1:n.*564A>G
ENST00000634620.1:n.4207A>G
ENST00000634810.1:n.2808A>G
ENST00000634844.1:c.3319A>G	ENSP00000489398.1:p.Arg1107Gly
NM_000053.3:c.3463A>G	NP_000044.2:p.Arg1155Gly
NM_001005918.2:c.2842A>G	NP_001005918.1:p.Arg948Gly
NM_001243182.1:c.3130A>G	NP_001230111.1:p.Arg1044Gly
XM_005266423.2:c.3367A>G	XP_005266480.1:p.Arg1123Gly
XM_005266424.3:c.3367A>G	XP_005266481.1:p.Arg1123Gly
XM_005266427.2:c.3229A>G	XP_005266484.1:p.Arg1077Gly
XM_005266428.1:c.3211A>G	XP_005266485.1:p.Arg1071Gly
XM_005266430.3:c.3463A>G	XP_005266487.1:p.Arg1155Gly
XM_005266431.2:c.3427A>G	XP_005266488.1:p.Arg1143Gly
XM_005266432.2:c.2977A>G	XP_005266489.1:p.Arg993Gly
XM_006719837.2:c.3367A>G	XP_006719900.1:p.Arg1123Gly
XM_006719838.1:c.1279A>G	XP_006719901.1:p.Arg427Gly
XM_006719839.1:c.1096A>G	XP_006719902.1:p.Arg366Gly
XM_011535117.1:c.3367A>G	XP_011533419.1:p.Arg1123Gly
XM_011535118.1:c.3328A>G	XP_011533420.1:p.Arg1110Gly
XM_011535119.1:c.3280A>G	XP_011533421.1:p.Arg1094Gly
XM_011535120.1:c.3049A>G	XP_011533422.1:p.Arg1017Gly
XM_011535121.1:c.2950A>G	XP_011533423.1:p.Arg984Gly
XM_011535122.1:c.2131A>G	XP_011533424.1:p.Arg711Gly
XR_941601.1:n.3682A>G
XR_941602.1:n.3682A>G
XR_941603.1:n.3682A>G
XR_941604.1:n.3682A>G
NM_001330578.1:c.3229A>G	NP_001317507.1:p.Arg1077Gly
NM_001330579.1:c.3211A>G	NP_001317508.1:p.Arg1071Gly
XM_005266424.4:c.3367A>G	XP_005266481.1:p.Arg1123Gly
XM_005266430.4:c.3463A>G	XP_005266487.1:p.Arg1155Gly
XM_005266431.4:c.3427A>G	XP_005266488.1:p.Arg1143Gly
XM_006719837.3:c.3367A>G	XP_006719900.1:p.Arg1123Gly
XM_011535117.3:c.3367A>G	XP_011533419.1:p.Arg1123Gly
XM_017020627.1:c.3367A>G	XP_016876116.1:p.Arg1123Gly
NM_000053.4:c.3463A>G MANE Select	NP_000044.2:p.Arg1155Gly
NM_001005918.3:c.2842A>G	NP_001005918.1:p.Arg948Gly
NM_001330579.2:c.3211A>G	NP_001317508.1:p.Arg1071Gly
NM_001243182.2:c.3130A>G	NP_001230111.1:p.Arg1044Gly
NM_001330578.2:c.3229A>G	NP_001317507.1:p.Arg1077Gly