Canonical Allele Identifier: CA484024082

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1739796
• ClinVar RCV Id: RCV002332133
• MyVariant Identifiers: chr13:g.52508958T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934822T>C , CM000675.2:g.51934822T>C	GRCh38
NC_000013.10:g.52508958T>C , CM000675.1:g.52508958T>C	GRCh37
NC_000013.9:g.51406959T>C	NCBI36
NG_008806.1:g.81673A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1982A>G	ENSP00000489512.2:n.*1982A>G
ENST00000673864.2:c.*3076A>G	ENSP00000501045.2:n.*3076A>G
ENST00000674147.2:c.3711A>G	ENSP00000500964.2:p.Ala1237=
ENST00000242839.10:c.4332A>G MANE Select	ENSP00000242839.5:p.Ala1444=
ENST00000344297.9:c.3711A>G	ENSP00000342559.5:p.Ala1237=
ENST00000400366.6:c.3999A>G	ENSP00000383217.3:p.Ala1333=
ENST00000448424.7:c.4080A>G	ENSP00000416738.3:p.Ala1360=
ENST00000673696.1:n.1655A>G
ENST00000673772.1:c.4098A>G	ENSP00000501168.1:p.Ala1366=
ENST00000673867.1:n.4471A>G
ENST00000673923.1:n.1198A>G
ENST00000674147.1:c.3267A>G	ENSP00000500964.1:p.Ala1089=
ENST00000242839.8:c.4332A>G	ENSP00000242839.4:p.Ala1444=
ENST00000344297.8:c.3711A>G	ENSP00000342559.5:p.Ala1237=
ENST00000400366.5:c.3999A>G	ENSP00000383217.3:p.Ala1333=
ENST00000400370.8:c.3042A>G	ENSP00000383221.3:p.Ala1014=
ENST00000418097.7:c.4137A>G	ENSP00000393343.2:p.Ala1379=
ENST00000448424.6:c.4098A>G	ENSP00000416738.2:p.Ala1366=
ENST00000634296.1:c.2110A>G
ENST00000634308.1:c.*1433A>G	ENSP00000489234.1:n.*1433A>G
ENST00000634620.1:n.5076A>G
ENST00000634810.1:n.3677A>G
ENST00000634844.1:c.4188A>G	ENSP00000489398.1:p.Ala1396=
NM_000053.3:c.4332A>G	NP_000044.2:p.Ala1444=
NM_001005918.2:c.3711A>G	NP_001005918.1:p.Ala1237=
NM_001243182.1:c.3999A>G	NP_001230111.1:p.Ala1333=
XM_005266423.2:c.4236A>G	XP_005266480.1:p.Ala1412=
XM_005266424.3:c.4236A>G	XP_005266481.1:p.Ala1412=
XM_005266427.2:c.4098A>G	XP_005266484.1:p.Ala1366=
XM_005266428.1:c.4080A>G	XP_005266485.1:p.Ala1360=
XM_005266430.3:c.4332A>G	XP_005266487.1:p.Ala1444=
XM_005266431.2:c.4296A>G	XP_005266488.1:p.Ala1432=
XM_005266432.2:c.3846A>G	XP_005266489.1:p.Ala1282=
XM_006719837.2:c.4236A>G	XP_006719900.1:p.Ala1412=
XM_006719838.1:c.2148A>G	XP_006719901.1:p.Ala716=
XM_006719839.1:c.1965A>G	XP_006719902.1:p.Ala655=
XM_011535117.1:c.4236A>G	XP_011533419.1:p.Ala1412=
XM_011535118.1:c.4197A>G	XP_011533420.1:p.Ala1399=
XM_011535119.1:c.4149A>G	XP_011533421.1:p.Ala1383=
XM_011535120.1:c.3918A>G	XP_011533422.1:p.Ala1306=
XM_011535121.1:c.3819A>G	XP_011533423.1:p.Ala1273=
XM_011535122.1:c.3000A>G	XP_011533424.1:p.Ala1000=
XR_941601.1:n.4551A>G
XR_941602.1:n.4551A>G
XR_941603.1:n.4551A>G
XR_941604.1:n.4551A>G
NM_001330578.1:c.4098A>G	NP_001317507.1:p.Ala1366=
NM_001330579.1:c.4080A>G	NP_001317508.1:p.Ala1360=
XM_005266424.4:c.4236A>G	XP_005266481.1:p.Ala1412=
XM_005266430.4:c.4332A>G	XP_005266487.1:p.Ala1444=
XM_005266431.4:c.4296A>G	XP_005266488.1:p.Ala1432=
XM_006719837.3:c.4236A>G	XP_006719900.1:p.Ala1412=
XM_011535117.3:c.4236A>G	XP_011533419.1:p.Ala1412=
XM_017020627.1:c.4236A>G	XP_016876116.1:p.Ala1412=
NM_000053.4:c.4332A>G MANE Select	NP_000044.2:p.Ala1444=
NM_001005918.3:c.3711A>G	NP_001005918.1:p.Ala1237=
NM_001330579.2:c.4080A>G	NP_001317508.1:p.Ala1360=
NM_001243182.2:c.3999A>G	NP_001230111.1:p.Ala1333=
NM_001330578.2:c.4098A>G	NP_001317507.1:p.Ala1366=