Canonical Allele Identifier: CA483894771

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1137510
• ClinVar RCV Id: RCV001473517
• dbSNP Id: rs2138960752
• gnomAD v4: 13-51944286-C-T
• MyVariant Identifiers: chr13:g.52518422C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944286C>T , CM000675.2:g.51944286C>T	GRCh38
NC_000013.10:g.52518422C>T , CM000675.1:g.52518422C>T	GRCh37
NC_000013.9:g.51416423C>T	NCBI36
NG_008806.1:g.72209G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1732G>A	ENSP00000489512.2:n.*894-1732G>A
ENST00000673864.2:c.*1810G>A	ENSP00000501045.2:n.*1810G>A
ENST00000674147.2:c.2445G>A	ENSP00000500964.2:p.Lys815=
ENST00000242839.10:c.3066G>A MANE Select	ENSP00000242839.5:p.Lys1022=
ENST00000344297.9:c.2445G>A	ENSP00000342559.5:p.Lys815=
ENST00000400366.6:c.2733G>A	ENSP00000383217.3:p.Lys911=
ENST00000448424.7:c.2814G>A	ENSP00000416738.3:p.Lys938=
ENST00000673772.1:c.2832G>A	ENSP00000501168.1:p.Lys944=
ENST00000673867.1:n.3205G>A
ENST00000674126.1:n.3429G>A
ENST00000674147.1:c.2001G>A	ENSP00000500964.1:p.Lys667=
ENST00000242839.8:c.3066G>A	ENSP00000242839.4:p.Lys1022=
ENST00000344297.8:c.2445G>A	ENSP00000342559.5:p.Lys815=
ENST00000400366.5:c.2733G>A	ENSP00000383217.3:p.Lys911=
ENST00000400370.8:c.1776G>A	ENSP00000383221.3:p.Lys592=
ENST00000418097.7:c.2871G>A	ENSP00000393343.2:p.Lys957=
ENST00000448424.6:c.2832G>A	ENSP00000416738.2:p.Lys944=
ENST00000466629.1:n.286G>A
ENST00000634296.1:c.1022-1732G>A
ENST00000634308.1:c.*167G>A	ENSP00000489234.1:n.*167G>A
ENST00000634620.1:n.3810G>A
ENST00000634810.1:n.2411G>A
ENST00000634844.1:c.2922G>A	ENSP00000489398.1:p.Lys974=
ENST00000635406.1:n.412G>A
NM_000053.3:c.3066G>A	NP_000044.2:p.Lys1022=
NM_001005918.2:c.2445G>A	NP_001005918.1:p.Lys815=
NM_001243182.1:c.2733G>A	NP_001230111.1:p.Lys911=
XM_005266423.2:c.2970G>A	XP_005266480.1:p.Lys990=
XM_005266424.3:c.2970G>A	XP_005266481.1:p.Lys990=
XM_005266427.2:c.2832G>A	XP_005266484.1:p.Lys944=
XM_005266428.1:c.2814G>A	XP_005266485.1:p.Lys938=
XM_005266430.3:c.3066G>A	XP_005266487.1:p.Lys1022=
XM_005266431.2:c.3030G>A	XP_005266488.1:p.Lys1010=
XM_005266432.2:c.2580G>A	XP_005266489.1:p.Lys860=
XM_006719837.2:c.2970G>A	XP_006719900.1:p.Lys990=
XM_006719838.1:c.882G>A	XP_006719901.1:p.Lys294=
XM_006719839.1:c.877-1732G>A	XP_006719902.1:n.877-1732G>A
XM_011535117.1:c.2970G>A	XP_011533419.1:p.Lys990=
XM_011535118.1:c.2931G>A	XP_011533420.1:p.Lys977=
XM_011535119.1:c.3061-1732G>A	XP_011533421.1:n.3061-1732G>A
XM_011535120.1:c.2652G>A	XP_011533422.1:p.Lys884=
XM_011535121.1:c.2731-1732G>A	XP_011533423.1:n.2731-1732G>A
XM_011535122.1:c.1734G>A	XP_011533424.1:p.Lys578=
XR_941601.1:n.3285G>A
XR_941602.1:n.3285G>A
XR_941603.1:n.3285G>A
XR_941604.1:n.3285G>A
NM_001330578.1:c.2832G>A	NP_001317507.1:p.Lys944=
NM_001330579.1:c.2814G>A	NP_001317508.1:p.Lys938=
XM_005266424.4:c.2970G>A	XP_005266481.1:p.Lys990=
XM_005266430.4:c.3066G>A	XP_005266487.1:p.Lys1022=
XM_005266431.4:c.3030G>A	XP_005266488.1:p.Lys1010=
XM_006719837.3:c.2970G>A	XP_006719900.1:p.Lys990=
XM_011535117.3:c.2970G>A	XP_011533419.1:p.Lys990=
XM_017020627.1:c.2970G>A	XP_016876116.1:p.Lys990=
NM_000053.4:c.3066G>A MANE Select	NP_000044.2:p.Lys1022=
NM_001005918.3:c.2445G>A	NP_001005918.1:p.Lys815=
NM_001330579.2:c.2814G>A	NP_001317508.1:p.Lys938=
NM_001243182.2:c.2733G>A	NP_001230111.1:p.Lys911=
NM_001330578.2:c.2832G>A	NP_001317507.1:p.Lys944=