Canonical Allele Identifier: CA350449941
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1466571
dbSNP Id: rs1574701935

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728737G>A , CM000664.2:g.214728737G>A GRCh38
NC_000002.11:g.215593461G>A , CM000664.1:g.215593461G>A GRCh37
NC_000002.10:g.215301706G>A NCBI36
NG_012047.2:g.85968C>T
NG_012047.3:g.85975C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2273C>T MANE Select ENSP00000260947.4:p.Ala758Val
ENST00000421162.2:c.920C>T ENSP00000392245.2:p.Ala307Val
ENST00000613192.2:c.*336C>T ENSP00000483275.2:n.*336C>T
ENST00000613374.5:c.863C>T ENSP00000484464.1:p.Ala288Val
ENST00000613706.5:c.1865C>T ENSP00000484976.2:p.Ala622Val
ENST00000617164.5:c.2216C>T ENSP00000480470.1:p.Ala739Val
ENST00000619009.5:c.734C>T ENSP00000482293.1:p.Ala245Val
ENST00000650978.1:c.3648C>T
ENST00000260947.8:c.2273C>T ENSP00000260947.4:p.Ala758Val
ENST00000432456.5:c.416C>T
ENST00000455743.5:c.*1893C>T ENSP00000412186.1:n.*1893C>T
ENST00000471590.5:n.608C>T
ENST00000613192.1:c.443C>T ENSP00000483275.1:p.Ala148Val
ENST00000613374.4:c.863C>T ENSP00000484464.1:p.Ala288Val
ENST00000613706.4:c.920C>T ENSP00000484976.1:p.Ala307Val
ENST00000617164.4:c.2216C>T ENSP00000480470.1:p.Ala739Val
ENST00000619009.4:c.734C>T ENSP00000482293.1:p.Ala245Val
ENST00000620057.4:c.*939C>T ENSP00000481988.1:n.*939C>T
NM_000465.3:c.2273C>T NP_000456.2:p.Ala758Val
NM_001282543.1:c.2216C>T NP_001269472.1:p.Ala739Val
NM_001282545.1:c.920C>T NP_001269474.1:p.Ala307Val
NM_001282548.1:c.863C>T NP_001269477.1:p.Ala288Val
NM_001282549.1:c.734C>T NP_001269478.1:p.Ala245Val
NR_104212.1:n.2266C>T
NR_104215.1:n.2209C>T
NR_104216.1:n.1465C>T
XM_011511567.1:c.2219C>T XP_011509869.1:p.Ala740Val
XM_017004613.1:c.2372C>T XP_016860102.1:p.Ala791Val
XR_002959322.1:n.2639C>T
NM_000465.4:c.2273C>T MANE Select NP_000456.2:p.Ala758Val
NM_001282543.2:c.2216C>T NP_001269472.1:p.Ala739Val
NM_001282545.2:c.920C>T NP_001269474.1:p.Ala307Val
NM_001282548.2:c.863C>T NP_001269477.1:p.Ala288Val
NM_001282549.2:c.734C>T NP_001269478.1:p.Ala245Val
NR_104212.2:n.2238C>T
NR_104215.2:n.2181C>T
NR_104216.2:n.1437C>T