Canonical Allele Identifier: CA388030009

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518307C>A (hg19) ; chr13:g.51944171C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1617G>T	ENSP00000489512.2:n.*894-1617G>T
ENST00000673864.2:c.*1925G>T	ENSP00000501045.2:n.*1925G>T
ENST00000674147.2:c.2560G>T	ENSP00000500964.2:p.Gly854Trp
ENST00000242839.10:c.3181G>T MANE Select	ENSP00000242839.5:p.Gly1061Trp
ENST00000344297.9:c.2560G>T	ENSP00000342559.5:p.Gly854Trp
ENST00000400366.6:c.2848G>T	ENSP00000383217.3:p.Gly950Trp
ENST00000448424.7:c.2929G>T	ENSP00000416738.3:p.Gly977Trp
ENST00000673772.1:c.2947G>T	ENSP00000501168.1:p.Gly983Trp
ENST00000673867.1:n.3320G>T
ENST00000674126.1:n.3544G>T
ENST00000674147.1:c.2116G>T	ENSP00000500964.1:p.Gly706Trp
ENST00000242839.8:c.3181G>T	ENSP00000242839.4:p.Gly1061Trp
ENST00000344297.8:c.2560G>T	ENSP00000342559.5:p.Gly854Trp
ENST00000400366.5:c.2848G>T	ENSP00000383217.3:p.Gly950Trp
ENST00000400370.8:c.1891G>T	ENSP00000383221.3:p.Gly631Trp
ENST00000418097.7:c.2986G>T	ENSP00000393343.2:p.Gly996Trp
ENST00000448424.6:c.2947G>T	ENSP00000416738.2:p.Gly983Trp
ENST00000466629.1:n.401G>T
ENST00000634296.1:c.1022-1617G>T
ENST00000634308.1:c.*282G>T	ENSP00000489234.1:n.*282G>T
ENST00000634620.1:n.3925G>T
ENST00000634810.1:n.2526G>T
ENST00000634844.1:c.3037G>T	ENSP00000489398.1:p.Gly1013Trp
NM_000053.3:c.3181G>T	NP_000044.2:p.Gly1061Trp
NM_001005918.2:c.2560G>T	NP_001005918.1:p.Gly854Trp
NM_001243182.1:c.2848G>T	NP_001230111.1:p.Gly950Trp
XM_005266423.2:c.3085G>T	XP_005266480.1:p.Gly1029Trp
XM_005266424.3:c.3085G>T	XP_005266481.1:p.Gly1029Trp
XM_005266427.2:c.2947G>T	XP_005266484.1:p.Gly983Trp
XM_005266428.1:c.2929G>T	XP_005266485.1:p.Gly977Trp
XM_005266430.3:c.3181G>T	XP_005266487.1:p.Gly1061Trp
XM_005266431.2:c.3145G>T	XP_005266488.1:p.Gly1049Trp
XM_005266432.2:c.2695G>T	XP_005266489.1:p.Gly899Trp
XM_006719837.2:c.3085G>T	XP_006719900.1:p.Gly1029Trp
XM_006719838.1:c.997G>T	XP_006719901.1:p.Gly333Trp
XM_006719839.1:c.877-1617G>T	XP_006719902.1:n.877-1617G>T
XM_011535117.1:c.3085G>T	XP_011533419.1:p.Gly1029Trp
XM_011535118.1:c.3046G>T	XP_011533420.1:p.Gly1016Trp
XM_011535119.1:c.3061-1617G>T	XP_011533421.1:n.3061-1617G>T
XM_011535120.1:c.2767G>T	XP_011533422.1:p.Gly923Trp
XM_011535121.1:c.2731-1617G>T	XP_011533423.1:n.2731-1617G>T
XM_011535122.1:c.1849G>T	XP_011533424.1:p.Gly617Trp
XR_941601.1:n.3400G>T
XR_941602.1:n.3400G>T
XR_941603.1:n.3400G>T
XR_941604.1:n.3400G>T
NM_001330578.1:c.2947G>T	NP_001317507.1:p.Gly983Trp
NM_001330579.1:c.2929G>T	NP_001317508.1:p.Gly977Trp
XM_005266424.4:c.3085G>T	XP_005266481.1:p.Gly1029Trp
XM_005266430.4:c.3181G>T	XP_005266487.1:p.Gly1061Trp
XM_005266431.4:c.3145G>T	XP_005266488.1:p.Gly1049Trp
XM_006719837.3:c.3085G>T	XP_006719900.1:p.Gly1029Trp
XM_011535117.3:c.3085G>T	XP_011533419.1:p.Gly1029Trp
XM_017020627.1:c.3085G>T	XP_016876116.1:p.Gly1029Trp
NM_000053.4:c.3181G>T MANE Select	NP_000044.2:p.Gly1061Trp
NM_001005918.3:c.2560G>T	NP_001005918.1:p.Gly854Trp
NM_001330579.2:c.2929G>T	NP_001317508.1:p.Gly977Trp
NM_001243182.2:c.2848G>T	NP_001230111.1:p.Gly950Trp
NM_001330578.2:c.2947G>T	NP_001317507.1:p.Gly983Trp