Canonical Allele Identifier: CA388034344

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1930912
• ClinVar RCV Id: RCV002631301
• dbSNP Id: rs1957898729
• gnomAD v3: 13-51950057-T-C
• gnomAD v4: 13-51950057-T-C
• MyVariant Identifiers: chr13:g.52524193T>C (hg19) ; chr13:g.51950057T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950057T>C , CM000675.2:g.51950057T>C	GRCh38
NC_000013.10:g.52524193T>C , CM000675.1:g.52524193T>C	GRCh37
NC_000013.9:g.51422194T>C	NCBI36
NG_008806.1:g.66438A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*513A>G	ENSP00000489512.2:n.*513A>G
ENST00000673864.2:c.*1424A>G	ENSP00000501045.2:n.*1424A>G
ENST00000674147.2:c.2194A>G	ENSP00000500964.2:p.Thr732Ala
ENST00000242839.10:c.2680A>G MANE Select	ENSP00000242839.5:p.Thr894Ala
ENST00000344297.9:c.2194A>G	ENSP00000342559.5:p.Thr732Ala
ENST00000400366.6:c.2347A>G	ENSP00000383217.3:p.Thr783Ala
ENST00000448424.7:c.2428A>G	ENSP00000416738.3:p.Thr810Ala
ENST00000673772.1:c.2446A>G	ENSP00000501168.1:p.Thr816Ala
ENST00000674147.1:c.1750A>G	ENSP00000500964.1:p.Thr584Ala
ENST00000242839.8:c.2680A>G	ENSP00000242839.4:p.Thr894Ala
ENST00000344297.8:c.2194A>G	ENSP00000342559.5:p.Thr732Ala
ENST00000400366.5:c.2347A>G	ENSP00000383217.3:p.Thr783Ala
ENST00000400370.8:c.1390A>G	ENSP00000383221.3:p.Thr464Ala
ENST00000418097.7:c.2680A>G	ENSP00000393343.2:p.Thr894Ala
ENST00000448424.6:c.2446A>G	ENSP00000416738.2:p.Thr816Ala
ENST00000634296.1:c.641A>G
ENST00000634308.1:c.2446A>G	ENSP00000489234.1:p.Thr816Ala
ENST00000634620.1:n.3478A>G
ENST00000634810.1:n.2025A>G
ENST00000634844.1:c.2536A>G	ENSP00000489398.1:p.Thr846Ala
ENST00000635406.1:n.212-3579A>G
NM_000053.3:c.2680A>G	NP_000044.2:p.Thr894Ala
NM_001005918.2:c.2194A>G	NP_001005918.1:p.Thr732Ala
NM_001243182.1:c.2347A>G	NP_001230111.1:p.Thr783Ala
XM_005266423.2:c.2584A>G	XP_005266480.1:p.Thr862Ala
XM_005266424.3:c.2584A>G	XP_005266481.1:p.Thr862Ala
XM_005266427.2:c.2446A>G	XP_005266484.1:p.Thr816Ala
XM_005266428.1:c.2428A>G	XP_005266485.1:p.Thr810Ala
XM_005266430.3:c.2680A>G	XP_005266487.1:p.Thr894Ala
XM_005266431.2:c.2644A>G	XP_005266488.1:p.Thr882Ala
XM_005266432.2:c.2194A>G	XP_005266489.1:p.Thr732Ala
XM_006719837.2:c.2584A>G	XP_006719900.1:p.Thr862Ala
XM_006719838.1:c.496A>G	XP_006719901.1:p.Thr166Ala
XM_006719839.1:c.496A>G	XP_006719902.1:p.Thr166Ala
XM_011535117.1:c.2584A>G	XP_011533419.1:p.Thr862Ala
XM_011535118.1:c.2680A>G	XP_011533420.1:p.Thr894Ala
XM_011535119.1:c.2680A>G	XP_011533421.1:p.Thr894Ala
XM_011535120.1:c.2266A>G	XP_011533422.1:p.Thr756Ala
XM_011535121.1:c.2680A>G	XP_011533423.1:p.Thr894Ala
XM_011535122.1:c.1348A>G	XP_011533424.1:p.Thr450Ala
XR_941601.1:n.2899A>G
XR_941602.1:n.2899A>G
XR_941603.1:n.2899A>G
XR_941604.1:n.2899A>G
NM_001330578.1:c.2446A>G	NP_001317507.1:p.Thr816Ala
NM_001330579.1:c.2428A>G	NP_001317508.1:p.Thr810Ala
XM_005266424.4:c.2584A>G	XP_005266481.1:p.Thr862Ala
XM_005266430.4:c.2680A>G	XP_005266487.1:p.Thr894Ala
XM_005266431.4:c.2644A>G	XP_005266488.1:p.Thr882Ala
XM_006719837.3:c.2584A>G	XP_006719900.1:p.Thr862Ala
XM_011535117.3:c.2584A>G	XP_011533419.1:p.Thr862Ala
XM_017020627.1:c.2584A>G	XP_016876116.1:p.Thr862Ala
NM_000053.4:c.2680A>G MANE Select	NP_000044.2:p.Thr894Ala
NM_001005918.3:c.2194A>G	NP_001005918.1:p.Thr732Ala
NM_001330579.2:c.2428A>G	NP_001317508.1:p.Thr810Ala
NM_001243182.2:c.2347A>G	NP_001230111.1:p.Thr783Ala
NM_001330578.2:c.2446A>G	NP_001317507.1:p.Thr816Ala