Canonical Allele Identifier: CA16041667
Gene: ATP7B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371483
ClinVar RCV Id: RCV000410917
dbSNP Id: rs1057517310

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51949710C>A , CM000675.2:g.51949710C>A GRCh38
NC_000013.10:g.52523846C>A , CM000675.1:g.52523846C>A GRCh37
NC_000013.9:g.51421847C>A NCBI36
NG_008806.1:g.66785G>T

Transcript Alleles

HGVS Amino-acid change
NM_000053.3:c.2817G>T VV NP_000044.2:p.Trp939Cys
NM_001005918.2:c.2244+297G>T VV NP_001005918.1:p.=
NM_001243182.1:c.2484G>T VV NP_001230111.1:p.Trp828Cys
XM_005266423.2:c.2721G>T XP_005266480.1:p.Trp907Cys
XM_005266424.3:c.2721G>T XP_005266481.1:p.Trp907Cys
XM_005266427.2:c.2583G>T XP_005266484.1:p.Trp861Cys
XM_005266428.1:c.2565G>T XP_005266485.1:p.Trp855Cys
XM_005266430.3:c.2817G>T XP_005266487.1:p.Trp939Cys
XM_005266431.2:c.2781G>T XP_005266488.1:p.Trp927Cys
XM_005266432.2:c.2331G>T XP_005266489.1:p.Trp777Cys
XM_006719837.2:c.2721G>T XP_006719900.1:p.Trp907Cys
XM_006719838.1:c.633G>T XP_006719901.1:p.Trp211Cys
XM_006719839.1:c.633G>T XP_006719902.1:p.Trp211Cys
XM_011535117.1:c.2721G>T XP_011533419.1:p.Trp907Cys
XM_011535118.1:c.2730+297G>T XP_011533420.1:p.=
XM_011535119.1:c.2817G>T XP_011533421.1:p.Trp939Cys
XM_011535120.1:c.2403G>T XP_011533422.1:p.Trp801Cys
XM_011535121.1:c.2730+297G>T XP_011533423.1:p.=
XM_011535122.1:c.1485G>T XP_011533424.1:p.Trp495Cys
XR_941601.1:n.3036G>T
XR_941602.1:n.3036G>T
XR_941603.1:n.3036G>T
XR_941604.1:n.3036G>T
NM_001330578.1:c.2583G>T VV NP_001317507.1:p.Trp861Cys
NM_001330579.1:c.2565G>T VV NP_001317508.1:p.Trp855Cys
XM_005266424.4:c.2721G>T XP_005266481.1:p.Trp907Cys
XM_005266430.4:c.2817G>T XP_005266487.1:p.Trp939Cys
XM_005266431.4:c.2781G>T XP_005266488.1:p.Trp927Cys
XM_006719837.3:c.2721G>T XP_006719900.1:p.Trp907Cys
XM_011535117.3:c.2721G>T XP_011533419.1:p.Trp907Cys
XM_017020627.1:c.2721G>T XP_016876116.1:p.Trp907Cys
ENST00000242839.8:c.2817G>T ENSP00000242839.4:p.Trp939Cys
ENST00000344297.8:c.2244+297G>T ENSP00000342559.5:p.=
ENST00000400366.5:c.2484G>T ENSP00000383217.3:p.Trp828Cys
ENST00000400370.8:c.1527G>T ENSP00000383221.3:p.Trp509Cys
ENST00000418097.7:c.2817G>T ENSP00000393343.2:p.Trp939Cys
ENST00000448424.6:c.2583G>T ENSP00000416738.2:p.Trp861Cys
ENST00000634296.1:n.778G>T
ENST00000634308.1:c.2583G>T ENSP00000489234.1:p.Trp861Cys
ENST00000634620.1:n.3609+6G>T
ENST00000634810.1:n.2162G>T
ENST00000634844.1:c.2673G>T ENSP00000489398.1:p.Trp891Cys
ENST00000635406.1:n.212-3232G>T