Canonical Allele Identifier: CA483894736

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944231-G-T
• MyVariant Identifiers: chr13:g.52518367G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944231G>T , CM000675.2:g.51944231G>T	GRCh38
NC_000013.10:g.52518367G>T , CM000675.1:g.52518367G>T	GRCh37
NC_000013.9:g.51416368G>T	NCBI36
NG_008806.1:g.72264C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1677C>A	ENSP00000489512.2:n.*894-1677C>A
ENST00000673864.2:c.*1865C>A	ENSP00000501045.2:n.*1865C>A
ENST00000674147.2:c.2500C>A	ENSP00000500964.2:p.Arg834=
ENST00000242839.10:c.3121C>A MANE Select	ENSP00000242839.5:p.Arg1041=
ENST00000344297.9:c.2500C>A	ENSP00000342559.5:p.Arg834=
ENST00000400366.6:c.2788C>A	ENSP00000383217.3:p.Arg930=
ENST00000448424.7:c.2869C>A	ENSP00000416738.3:p.Arg957=
ENST00000673772.1:c.2887C>A	ENSP00000501168.1:p.Arg963=
ENST00000673867.1:n.3260C>A
ENST00000674126.1:n.3484C>A
ENST00000674147.1:c.2056C>A	ENSP00000500964.1:p.Arg686=
ENST00000242839.8:c.3121C>A	ENSP00000242839.4:p.Arg1041=
ENST00000344297.8:c.2500C>A	ENSP00000342559.5:p.Arg834=
ENST00000400366.5:c.2788C>A	ENSP00000383217.3:p.Arg930=
ENST00000400370.8:c.1831C>A	ENSP00000383221.3:p.Arg611=
ENST00000418097.7:c.2926C>A	ENSP00000393343.2:p.Arg976=
ENST00000448424.6:c.2887C>A	ENSP00000416738.2:p.Arg963=
ENST00000466629.1:n.341C>A
ENST00000634296.1:c.1022-1677C>A
ENST00000634308.1:c.*222C>A	ENSP00000489234.1:n.*222C>A
ENST00000634620.1:n.3865C>A
ENST00000634810.1:n.2466C>A
ENST00000634844.1:c.2977C>A	ENSP00000489398.1:p.Arg993=
ENST00000635406.1:n.467C>A
NM_000053.3:c.3121C>A	NP_000044.2:p.Arg1041=
NM_001005918.2:c.2500C>A	NP_001005918.1:p.Arg834=
NM_001243182.1:c.2788C>A	NP_001230111.1:p.Arg930=
XM_005266423.2:c.3025C>A	XP_005266480.1:p.Arg1009=
XM_005266424.3:c.3025C>A	XP_005266481.1:p.Arg1009=
XM_005266427.2:c.2887C>A	XP_005266484.1:p.Arg963=
XM_005266428.1:c.2869C>A	XP_005266485.1:p.Arg957=
XM_005266430.3:c.3121C>A	XP_005266487.1:p.Arg1041=
XM_005266431.2:c.3085C>A	XP_005266488.1:p.Arg1029=
XM_005266432.2:c.2635C>A	XP_005266489.1:p.Arg879=
XM_006719837.2:c.3025C>A	XP_006719900.1:p.Arg1009=
XM_006719838.1:c.937C>A	XP_006719901.1:p.Arg313=
XM_006719839.1:c.877-1677C>A	XP_006719902.1:n.877-1677C>A
XM_011535117.1:c.3025C>A	XP_011533419.1:p.Arg1009=
XM_011535118.1:c.2986C>A	XP_011533420.1:p.Arg996=
XM_011535119.1:c.3061-1677C>A	XP_011533421.1:n.3061-1677C>A
XM_011535120.1:c.2707C>A	XP_011533422.1:p.Arg903=
XM_011535121.1:c.2731-1677C>A	XP_011533423.1:n.2731-1677C>A
XM_011535122.1:c.1789C>A	XP_011533424.1:p.Arg597=
XR_941601.1:n.3340C>A
XR_941602.1:n.3340C>A
XR_941603.1:n.3340C>A
XR_941604.1:n.3340C>A
NM_001330578.1:c.2887C>A	NP_001317507.1:p.Arg963=
NM_001330579.1:c.2869C>A	NP_001317508.1:p.Arg957=
XM_005266424.4:c.3025C>A	XP_005266481.1:p.Arg1009=
XM_005266430.4:c.3121C>A	XP_005266487.1:p.Arg1041=
XM_005266431.4:c.3085C>A	XP_005266488.1:p.Arg1029=
XM_006719837.3:c.3025C>A	XP_006719900.1:p.Arg1009=
XM_011535117.3:c.3025C>A	XP_011533419.1:p.Arg1009=
XM_017020627.1:c.3025C>A	XP_016876116.1:p.Arg1009=
NM_000053.4:c.3121C>A MANE Select	NP_000044.2:p.Arg1041=
NM_001005918.3:c.2500C>A	NP_001005918.1:p.Arg834=
NM_001330579.2:c.2869C>A	NP_001317508.1:p.Arg957=
NM_001243182.2:c.2788C>A	NP_001230111.1:p.Arg930=
NM_001330578.2:c.2887C>A	NP_001317507.1:p.Arg963=