Canonical Allele Identifier: CA250085246

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 649110
• ClinVar RCV Id: RCV000803967
• dbSNP Id: rs896503662
• gnomAD v2: 13-52524251-C-T
• gnomAD v3: 13-51950115-C-T
• gnomAD v4: 13-51950115-C-T
• MyVariant Identifiers: chr13:g.52524251C>T (hg19) ; chr13:g.51950115C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950115C>T , CM000675.2:g.51950115C>T	GRCh38
NC_000013.10:g.52524251C>T , CM000675.1:g.52524251C>T	GRCh37
NC_000013.9:g.51422252C>T	NCBI36
NG_008806.1:g.66380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*455G>A	ENSP00000489512.2:n.*455G>A
ENST00000673864.2:c.*1366G>A	ENSP00000501045.2:n.*1366G>A
ENST00000674147.2:c.2136G>A	ENSP00000500964.2:p.Ala712=
ENST00000242839.10:c.2622G>A MANE Select	ENSP00000242839.5:p.Ala874=
ENST00000344297.9:c.2136G>A	ENSP00000342559.5:p.Ala712=
ENST00000400366.6:c.2289G>A	ENSP00000383217.3:p.Ala763=
ENST00000448424.7:c.2370G>A	ENSP00000416738.3:p.Ala790=
ENST00000673772.1:c.2388G>A	ENSP00000501168.1:p.Ala796=
ENST00000674147.1:c.1692G>A	ENSP00000500964.1:p.Ala564=
ENST00000242839.8:c.2622G>A	ENSP00000242839.4:p.Ala874=
ENST00000344297.8:c.2136G>A	ENSP00000342559.5:p.Ala712=
ENST00000400366.5:c.2289G>A	ENSP00000383217.3:p.Ala763=
ENST00000400370.8:c.1332G>A	ENSP00000383221.3:p.Ala444=
ENST00000418097.7:c.2622G>A	ENSP00000393343.2:p.Ala874=
ENST00000448424.6:c.2388G>A	ENSP00000416738.2:p.Ala796=
ENST00000634296.1:c.583G>A
ENST00000634308.1:c.2388G>A	ENSP00000489234.1:p.Ala796=
ENST00000634620.1:n.3420G>A
ENST00000634810.1:n.1967G>A
ENST00000634844.1:c.2478G>A	ENSP00000489398.1:p.Ala826=
ENST00000635406.1:n.212-3637G>A
NM_000053.3:c.2622G>A	NP_000044.2:p.Ala874=
NM_001005918.2:c.2136G>A	NP_001005918.1:p.Ala712=
NM_001243182.1:c.2289G>A	NP_001230111.1:p.Ala763=
XM_005266423.2:c.2526G>A	XP_005266480.1:p.Ala842=
XM_005266424.3:c.2526G>A	XP_005266481.1:p.Ala842=
XM_005266427.2:c.2388G>A	XP_005266484.1:p.Ala796=
XM_005266428.1:c.2370G>A	XP_005266485.1:p.Ala790=
XM_005266430.3:c.2622G>A	XP_005266487.1:p.Ala874=
XM_005266431.2:c.2586G>A	XP_005266488.1:p.Ala862=
XM_005266432.2:c.2136G>A	XP_005266489.1:p.Ala712=
XM_006719837.2:c.2526G>A	XP_006719900.1:p.Ala842=
XM_006719838.1:c.438G>A	XP_006719901.1:p.Ala146=
XM_006719839.1:c.438G>A	XP_006719902.1:p.Ala146=
XM_011535117.1:c.2526G>A	XP_011533419.1:p.Ala842=
XM_011535118.1:c.2622G>A	XP_011533420.1:p.Ala874=
XM_011535119.1:c.2622G>A	XP_011533421.1:p.Ala874=
XM_011535120.1:c.2208G>A	XP_011533422.1:p.Ala736=
XM_011535121.1:c.2622G>A	XP_011533423.1:p.Ala874=
XM_011535122.1:c.1290G>A	XP_011533424.1:p.Ala430=
XR_941601.1:n.2841G>A
XR_941602.1:n.2841G>A
XR_941603.1:n.2841G>A
XR_941604.1:n.2841G>A
NM_001330578.1:c.2388G>A	NP_001317507.1:p.Ala796=
NM_001330579.1:c.2370G>A	NP_001317508.1:p.Ala790=
XM_005266424.4:c.2526G>A	XP_005266481.1:p.Ala842=
XM_005266430.4:c.2622G>A	XP_005266487.1:p.Ala874=
XM_005266431.4:c.2586G>A	XP_005266488.1:p.Ala862=
XM_006719837.3:c.2526G>A	XP_006719900.1:p.Ala842=
XM_011535117.3:c.2526G>A	XP_011533419.1:p.Ala842=
XM_017020627.1:c.2526G>A	XP_016876116.1:p.Ala842=
NM_000053.4:c.2622G>A MANE Select	NP_000044.2:p.Ala874=
NM_001005918.3:c.2136G>A	NP_001005918.1:p.Ala712=
NM_001330579.2:c.2370G>A	NP_001317508.1:p.Ala790=
NM_001243182.2:c.2289G>A	NP_001230111.1:p.Ala763=
NM_001330578.2:c.2388G>A	NP_001317507.1:p.Ala796=