Canonical Allele Identifier: CA483894748

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3023547
• ClinVar RCV Id: RCV003880642
• dbSNP Id: rs200324179
• gnomAD v4: 13-51944247-G-T
• MyVariant Identifiers: chr13:g.52518383G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944247G>T , CM000675.2:g.51944247G>T	GRCh38
NC_000013.10:g.52518383G>T , CM000675.1:g.52518383G>T	GRCh37
NC_000013.9:g.51416384G>T	NCBI36
NG_008806.1:g.72248C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1693C>A	ENSP00000489512.2:n.*894-1693C>A
ENST00000673864.2:c.*1849C>A	ENSP00000501045.2:n.*1849C>A
ENST00000674147.2:c.2484C>A	ENSP00000500964.2:p.Gly828=
ENST00000242839.10:c.3105C>A MANE Select	ENSP00000242839.5:p.Gly1035=
ENST00000344297.9:c.2484C>A	ENSP00000342559.5:p.Gly828=
ENST00000400366.6:c.2772C>A	ENSP00000383217.3:p.Gly924=
ENST00000448424.7:c.2853C>A	ENSP00000416738.3:p.Gly951=
ENST00000673772.1:c.2871C>A	ENSP00000501168.1:p.Gly957=
ENST00000673867.1:n.3244C>A
ENST00000674126.1:n.3468C>A
ENST00000674147.1:c.2040C>A	ENSP00000500964.1:p.Gly680=
ENST00000242839.8:c.3105C>A	ENSP00000242839.4:p.Gly1035=
ENST00000344297.8:c.2484C>A	ENSP00000342559.5:p.Gly828=
ENST00000400366.5:c.2772C>A	ENSP00000383217.3:p.Gly924=
ENST00000400370.8:c.1815C>A	ENSP00000383221.3:p.Gly605=
ENST00000418097.7:c.2910C>A	ENSP00000393343.2:p.Gly970=
ENST00000448424.6:c.2871C>A	ENSP00000416738.2:p.Gly957=
ENST00000466629.1:n.325C>A
ENST00000634296.1:c.1022-1693C>A
ENST00000634308.1:c.*206C>A	ENSP00000489234.1:n.*206C>A
ENST00000634620.1:n.3849C>A
ENST00000634810.1:n.2450C>A
ENST00000634844.1:c.2961C>A	ENSP00000489398.1:p.Gly987=
ENST00000635406.1:n.451C>A
NM_000053.3:c.3105C>A	NP_000044.2:p.Gly1035=
NM_001005918.2:c.2484C>A	NP_001005918.1:p.Gly828=
NM_001243182.1:c.2772C>A	NP_001230111.1:p.Gly924=
XM_005266423.2:c.3009C>A	XP_005266480.1:p.Gly1003=
XM_005266424.3:c.3009C>A	XP_005266481.1:p.Gly1003=
XM_005266427.2:c.2871C>A	XP_005266484.1:p.Gly957=
XM_005266428.1:c.2853C>A	XP_005266485.1:p.Gly951=
XM_005266430.3:c.3105C>A	XP_005266487.1:p.Gly1035=
XM_005266431.2:c.3069C>A	XP_005266488.1:p.Gly1023=
XM_005266432.2:c.2619C>A	XP_005266489.1:p.Gly873=
XM_006719837.2:c.3009C>A	XP_006719900.1:p.Gly1003=
XM_006719838.1:c.921C>A	XP_006719901.1:p.Gly307=
XM_006719839.1:c.877-1693C>A	XP_006719902.1:n.877-1693C>A
XM_011535117.1:c.3009C>A	XP_011533419.1:p.Gly1003=
XM_011535118.1:c.2970C>A	XP_011533420.1:p.Gly990=
XM_011535119.1:c.3061-1693C>A	XP_011533421.1:n.3061-1693C>A
XM_011535120.1:c.2691C>A	XP_011533422.1:p.Gly897=
XM_011535121.1:c.2731-1693C>A	XP_011533423.1:n.2731-1693C>A
XM_011535122.1:c.1773C>A	XP_011533424.1:p.Gly591=
XR_941601.1:n.3324C>A
XR_941602.1:n.3324C>A
XR_941603.1:n.3324C>A
XR_941604.1:n.3324C>A
NM_001330578.1:c.2871C>A	NP_001317507.1:p.Gly957=
NM_001330579.1:c.2853C>A	NP_001317508.1:p.Gly951=
XM_005266424.4:c.3009C>A	XP_005266481.1:p.Gly1003=
XM_005266430.4:c.3105C>A	XP_005266487.1:p.Gly1035=
XM_005266431.4:c.3069C>A	XP_005266488.1:p.Gly1023=
XM_006719837.3:c.3009C>A	XP_006719900.1:p.Gly1003=
XM_011535117.3:c.3009C>A	XP_011533419.1:p.Gly1003=
XM_017020627.1:c.3009C>A	XP_016876116.1:p.Gly1003=
NM_000053.4:c.3105C>A MANE Select	NP_000044.2:p.Gly1035=
NM_001005918.3:c.2484C>A	NP_001005918.1:p.Gly828=
NM_001330579.2:c.2853C>A	NP_001317508.1:p.Gly951=
NM_001243182.2:c.2772C>A	NP_001230111.1:p.Gly924=
NM_001330578.2:c.2871C>A	NP_001317507.1:p.Gly957=