Canonical Allele Identifier: CA350449857
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 928708
dbSNP Id: rs1692192973

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728718T>C , CM000664.2:g.214728718T>C GRCh38
NC_000002.11:g.215593442T>C , CM000664.1:g.215593442T>C GRCh37
NC_000002.10:g.215301687T>C NCBI36
NG_012047.2:g.85987A>G
NG_012047.3:g.85994A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2292A>G MANE Select ENSP00000260947.4:p.Ile764Met
ENST00000421162.2:c.939A>G ENSP00000392245.2:p.Ile313Met
ENST00000613192.2:c.*355A>G ENSP00000483275.2:n.*355A>G
ENST00000613374.5:c.882A>G ENSP00000484464.1:p.Ile294Met
ENST00000613706.5:c.1884A>G ENSP00000484976.2:p.Ile628Met
ENST00000617164.5:c.2235A>G ENSP00000480470.1:p.Ile745Met
ENST00000619009.5:c.753A>G ENSP00000482293.1:p.Ile251Met
ENST00000650978.1:c.3667A>G
ENST00000260947.8:c.2292A>G ENSP00000260947.4:p.Ile764Met
ENST00000432456.5:c.435A>G
ENST00000455743.5:c.*1912A>G ENSP00000412186.1:n.*1912A>G
ENST00000471590.5:n.627A>G
ENST00000613192.1:c.462A>G ENSP00000483275.1:p.Ile154Met
ENST00000613374.4:c.882A>G ENSP00000484464.1:p.Ile294Met
ENST00000613706.4:c.939A>G ENSP00000484976.1:p.Ile313Met
ENST00000617164.4:c.2235A>G ENSP00000480470.1:p.Ile745Met
ENST00000619009.4:c.753A>G ENSP00000482293.1:p.Ile251Met
ENST00000620057.4:c.*958A>G ENSP00000481988.1:n.*958A>G
NM_000465.3:c.2292A>G NP_000456.2:p.Ile764Met
NM_001282543.1:c.2235A>G NP_001269472.1:p.Ile745Met
NM_001282545.1:c.939A>G NP_001269474.1:p.Ile313Met
NM_001282548.1:c.882A>G NP_001269477.1:p.Ile294Met
NM_001282549.1:c.753A>G NP_001269478.1:p.Ile251Met
NR_104212.1:n.2285A>G
NR_104215.1:n.2228A>G
NR_104216.1:n.1484A>G
XM_011511567.1:c.2238A>G XP_011509869.1:p.Ile746Met
XM_017004613.1:c.2391A>G XP_016860102.1:p.Ile797Met
XR_002959322.1:n.2658A>G
NM_000465.4:c.2292A>G MANE Select NP_000456.2:p.Ile764Met
NM_001282543.2:c.2235A>G NP_001269472.1:p.Ile745Met
NM_001282545.2:c.939A>G NP_001269474.1:p.Ile313Met
NM_001282548.2:c.882A>G NP_001269477.1:p.Ile294Met
NM_001282549.2:c.753A>G NP_001269478.1:p.Ile251Met
NR_104212.2:n.2257A>G
NR_104215.2:n.2200A>G
NR_104216.2:n.1456A>G