Canonical Allele Identifier: CA388030013

Gene: ATP7B

Linked Data

• dbSNP Id: rs1349853812
• gnomAD v2: 13-52518307-C-T
• gnomAD v3: 13-51944171-C-T
• gnomAD v4: 13-51944171-C-T
• MyVariant Identifiers: chr13:g.52518307C>T (hg19) ; chr13:g.51944171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944171C>T , CM000675.2:g.51944171C>T	GRCh38
NC_000013.10:g.52518307C>T , CM000675.1:g.52518307C>T	GRCh37
NC_000013.9:g.51416308C>T	NCBI36
NG_008806.1:g.72324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1617G>A	ENSP00000489512.2:n.*894-1617G>A
ENST00000673864.2:c.*1925G>A	ENSP00000501045.2:n.*1925G>A
ENST00000674147.2:c.2560G>A	ENSP00000500964.2:p.Gly854Arg
ENST00000242839.10:c.3181G>A MANE Select	ENSP00000242839.5:p.Gly1061Arg
ENST00000344297.9:c.2560G>A	ENSP00000342559.5:p.Gly854Arg
ENST00000400366.6:c.2848G>A	ENSP00000383217.3:p.Gly950Arg
ENST00000448424.7:c.2929G>A	ENSP00000416738.3:p.Gly977Arg
ENST00000673772.1:c.2947G>A	ENSP00000501168.1:p.Gly983Arg
ENST00000673867.1:n.3320G>A
ENST00000674126.1:n.3544G>A
ENST00000674147.1:c.2116G>A	ENSP00000500964.1:p.Gly706Arg
ENST00000242839.8:c.3181G>A	ENSP00000242839.4:p.Gly1061Arg
ENST00000344297.8:c.2560G>A	ENSP00000342559.5:p.Gly854Arg
ENST00000400366.5:c.2848G>A	ENSP00000383217.3:p.Gly950Arg
ENST00000400370.8:c.1891G>A	ENSP00000383221.3:p.Gly631Arg
ENST00000418097.7:c.2986G>A	ENSP00000393343.2:p.Gly996Arg
ENST00000448424.6:c.2947G>A	ENSP00000416738.2:p.Gly983Arg
ENST00000466629.1:n.401G>A
ENST00000634296.1:c.1022-1617G>A
ENST00000634308.1:c.*282G>A	ENSP00000489234.1:n.*282G>A
ENST00000634620.1:n.3925G>A
ENST00000634810.1:n.2526G>A
ENST00000634844.1:c.3037G>A	ENSP00000489398.1:p.Gly1013Arg
NM_000053.3:c.3181G>A	NP_000044.2:p.Gly1061Arg
NM_001005918.2:c.2560G>A	NP_001005918.1:p.Gly854Arg
NM_001243182.1:c.2848G>A	NP_001230111.1:p.Gly950Arg
XM_005266423.2:c.3085G>A	XP_005266480.1:p.Gly1029Arg
XM_005266424.3:c.3085G>A	XP_005266481.1:p.Gly1029Arg
XM_005266427.2:c.2947G>A	XP_005266484.1:p.Gly983Arg
XM_005266428.1:c.2929G>A	XP_005266485.1:p.Gly977Arg
XM_005266430.3:c.3181G>A	XP_005266487.1:p.Gly1061Arg
XM_005266431.2:c.3145G>A	XP_005266488.1:p.Gly1049Arg
XM_005266432.2:c.2695G>A	XP_005266489.1:p.Gly899Arg
XM_006719837.2:c.3085G>A	XP_006719900.1:p.Gly1029Arg
XM_006719838.1:c.997G>A	XP_006719901.1:p.Gly333Arg
XM_006719839.1:c.877-1617G>A	XP_006719902.1:n.877-1617G>A
XM_011535117.1:c.3085G>A	XP_011533419.1:p.Gly1029Arg
XM_011535118.1:c.3046G>A	XP_011533420.1:p.Gly1016Arg
XM_011535119.1:c.3061-1617G>A	XP_011533421.1:n.3061-1617G>A
XM_011535120.1:c.2767G>A	XP_011533422.1:p.Gly923Arg
XM_011535121.1:c.2731-1617G>A	XP_011533423.1:n.2731-1617G>A
XM_011535122.1:c.1849G>A	XP_011533424.1:p.Gly617Arg
XR_941601.1:n.3400G>A
XR_941602.1:n.3400G>A
XR_941603.1:n.3400G>A
XR_941604.1:n.3400G>A
NM_001330578.1:c.2947G>A	NP_001317507.1:p.Gly983Arg
NM_001330579.1:c.2929G>A	NP_001317508.1:p.Gly977Arg
XM_005266424.4:c.3085G>A	XP_005266481.1:p.Gly1029Arg
XM_005266430.4:c.3181G>A	XP_005266487.1:p.Gly1061Arg
XM_005266431.4:c.3145G>A	XP_005266488.1:p.Gly1049Arg
XM_006719837.3:c.3085G>A	XP_006719900.1:p.Gly1029Arg
XM_011535117.3:c.3085G>A	XP_011533419.1:p.Gly1029Arg
XM_017020627.1:c.3085G>A	XP_016876116.1:p.Gly1029Arg
NM_000053.4:c.3181G>A MANE Select	NP_000044.2:p.Gly1061Arg
NM_001005918.3:c.2560G>A	NP_001005918.1:p.Gly854Arg
NM_001330579.2:c.2929G>A	NP_001317508.1:p.Gly977Arg
NM_001243182.2:c.2848G>A	NP_001230111.1:p.Gly950Arg
NM_001330578.2:c.2947G>A	NP_001317507.1:p.Gly983Arg