Canonical Allele Identifier: CA431139629
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 482775
dbSNP Id: rs1553612528

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730486T>C , CM000664.2:g.214730486T>C GRCh38
NC_000002.11:g.215595210T>C , CM000664.1:g.215595210T>C GRCh37
NC_000002.10:g.215303455T>C NCBI36
NG_012047.2:g.84219A>G
NG_012047.3:g.84226A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1926A>G MANE Select ENSP00000260947.4:p.Arg642=
ENST00000421162.2:c.573A>G ENSP00000392245.2:p.Arg191=
ENST00000613192.2:c.181A>G ENSP00000483275.2:p.Lys61Glu
ENST00000613374.5:c.516A>G ENSP00000484464.1:p.Arg172=
ENST00000613706.5:c.1518A>G ENSP00000484976.2:p.Arg506=
ENST00000617164.5:c.1869A>G ENSP00000480470.1:p.Arg623=
ENST00000619009.5:c.387A>G ENSP00000482293.1:p.Arg129=
ENST00000650978.1:c.3301A>G
ENST00000260947.8:c.1926A>G ENSP00000260947.4:p.Arg642=
ENST00000421162.1:c.573A>G ENSP00000392245.1:p.Arg191=
ENST00000432456.5:c.23A>G
ENST00000455743.5:c.*1546A>G ENSP00000412186.1:n.*1546A>G
ENST00000471590.5:n.261A>G
ENST00000613192.1:c.96A>G ENSP00000483275.1:p.Arg32=
ENST00000613374.4:c.516A>G ENSP00000484464.1:p.Arg172=
ENST00000613706.4:c.573A>G ENSP00000484976.1:p.Arg191=
ENST00000617164.4:c.1869A>G ENSP00000480470.1:p.Arg623=
ENST00000619009.4:c.387A>G ENSP00000482293.1:p.Arg129=
ENST00000620057.4:c.*592A>G ENSP00000481988.1:n.*592A>G
NM_000465.3:c.1926A>G NP_000456.2:p.Arg642=
NM_001282543.1:c.1869A>G NP_001269472.1:p.Arg623=
NM_001282545.1:c.573A>G NP_001269474.1:p.Arg191=
NM_001282548.1:c.516A>G NP_001269477.1:p.Arg172=
NM_001282549.1:c.387A>G NP_001269478.1:p.Arg129=
NR_104212.1:n.1919A>G
NR_104215.1:n.1862A>G
NR_104216.1:n.1118A>G
XM_011511567.1:c.1872A>G XP_011509869.1:p.Arg624=
XM_017004613.1:c.2025A>G XP_016860102.1:p.Arg675=
XR_002959322.1:n.2116A>G
NM_000465.4:c.1926A>G MANE Select NP_000456.2:p.Arg642=
NM_001282543.2:c.1869A>G NP_001269472.1:p.Arg623=
NM_001282545.2:c.573A>G NP_001269474.1:p.Arg191=
NM_001282548.2:c.516A>G NP_001269477.1:p.Arg172=
NM_001282549.2:c.387A>G NP_001269478.1:p.Arg129=
NR_104212.2:n.1891A>G
NR_104215.2:n.1834A>G
NR_104216.2:n.1090A>G