Canonical Allele Identifier: CA388026478

Gene: ATP7B

Linked Data

• dbSNP Id: rs770428835
• gnomAD v4: 13-51941164-C-T
• MyVariant Identifiers: chr13:g.52515300C>T (hg19) ; chr13:g.51941164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941164C>T , CM000675.2:g.51941164C>T	GRCh38
NC_000013.10:g.52515300C>T , CM000675.1:g.52515300C>T	GRCh37
NC_000013.9:g.51413301C>T	NCBI36
NG_008806.1:g.75331G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1123G>A	ENSP00000489512.2:n.*1123G>A
ENST00000673864.2:c.*2217G>A	ENSP00000501045.2:n.*2217G>A
ENST00000674147.2:c.2852G>A	ENSP00000500964.2:p.Gly951Asp
ENST00000242839.10:c.3473G>A MANE Select	ENSP00000242839.5:p.Gly1158Asp
ENST00000344297.9:c.2852G>A	ENSP00000342559.5:p.Gly951Asp
ENST00000400366.6:c.3140G>A	ENSP00000383217.3:p.Gly1047Asp
ENST00000448424.7:c.3221G>A	ENSP00000416738.3:p.Gly1074Asp
ENST00000673772.1:c.3239G>A	ENSP00000501168.1:p.Gly1080Asp
ENST00000673867.1:n.3612G>A
ENST00000674126.1:n.3836G>A
ENST00000674147.1:c.2408G>A	ENSP00000500964.1:p.Gly803Asp
ENST00000242839.8:c.3473G>A	ENSP00000242839.4:p.Gly1158Asp
ENST00000344297.8:c.2852G>A	ENSP00000342559.5:p.Gly951Asp
ENST00000400366.5:c.3140G>A	ENSP00000383217.3:p.Gly1047Asp
ENST00000400370.8:c.2183G>A	ENSP00000383221.3:p.Gly728Asp
ENST00000418097.7:c.3278G>A	ENSP00000393343.2:p.Gly1093Asp
ENST00000448424.6:c.3239G>A	ENSP00000416738.2:p.Gly1080Asp
ENST00000634296.1:c.1251G>A
ENST00000634308.1:c.*574G>A	ENSP00000489234.1:n.*574G>A
ENST00000634620.1:n.4217G>A
ENST00000634810.1:n.2818G>A
ENST00000634844.1:c.3329G>A	ENSP00000489398.1:p.Gly1110Asp
NM_000053.3:c.3473G>A	NP_000044.2:p.Gly1158Asp
NM_001005918.2:c.2852G>A	NP_001005918.1:p.Gly951Asp
NM_001243182.1:c.3140G>A	NP_001230111.1:p.Gly1047Asp
XM_005266423.2:c.3377G>A	XP_005266480.1:p.Gly1126Asp
XM_005266424.3:c.3377G>A	XP_005266481.1:p.Gly1126Asp
XM_005266427.2:c.3239G>A	XP_005266484.1:p.Gly1080Asp
XM_005266428.1:c.3221G>A	XP_005266485.1:p.Gly1074Asp
XM_005266430.3:c.3473G>A	XP_005266487.1:p.Gly1158Asp
XM_005266431.2:c.3437G>A	XP_005266488.1:p.Gly1146Asp
XM_005266432.2:c.2987G>A	XP_005266489.1:p.Gly996Asp
XM_006719837.2:c.3377G>A	XP_006719900.1:p.Gly1126Asp
XM_006719838.1:c.1289G>A	XP_006719901.1:p.Gly430Asp
XM_006719839.1:c.1106G>A	XP_006719902.1:p.Gly369Asp
XM_011535117.1:c.3377G>A	XP_011533419.1:p.Gly1126Asp
XM_011535118.1:c.3338G>A	XP_011533420.1:p.Gly1113Asp
XM_011535119.1:c.3290G>A	XP_011533421.1:p.Gly1097Asp
XM_011535120.1:c.3059G>A	XP_011533422.1:p.Gly1020Asp
XM_011535121.1:c.2960G>A	XP_011533423.1:p.Gly987Asp
XM_011535122.1:c.2141G>A	XP_011533424.1:p.Gly714Asp
XR_941601.1:n.3692G>A
XR_941602.1:n.3692G>A
XR_941603.1:n.3692G>A
XR_941604.1:n.3692G>A
NM_001330578.1:c.3239G>A	NP_001317507.1:p.Gly1080Asp
NM_001330579.1:c.3221G>A	NP_001317508.1:p.Gly1074Asp
XM_005266424.4:c.3377G>A	XP_005266481.1:p.Gly1126Asp
XM_005266430.4:c.3473G>A	XP_005266487.1:p.Gly1158Asp
XM_005266431.4:c.3437G>A	XP_005266488.1:p.Gly1146Asp
XM_006719837.3:c.3377G>A	XP_006719900.1:p.Gly1126Asp
XM_011535117.3:c.3377G>A	XP_011533419.1:p.Gly1126Asp
XM_017020627.1:c.3377G>A	XP_016876116.1:p.Gly1126Asp
NM_000053.4:c.3473G>A MANE Select	NP_000044.2:p.Gly1158Asp
NM_001005918.3:c.2852G>A	NP_001005918.1:p.Gly951Asp
NM_001330579.2:c.3221G>A	NP_001317508.1:p.Gly1074Asp
NM_001243182.2:c.3140G>A	NP_001230111.1:p.Gly1047Asp
NM_001330578.2:c.3239G>A	NP_001317507.1:p.Gly1080Asp