Canonical Allele Identifier: CA350449661
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728686A>C , CM000664.2:g.214728686A>C GRCh38
NC_000002.11:g.215593410A>C , CM000664.1:g.215593410A>C GRCh37
NC_000002.10:g.215301655A>C NCBI36
NG_012047.2:g.86019T>G
NG_012047.3:g.86026T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2324T>G MANE Select ENSP00000260947.4:p.Leu775Arg
ENST00000421162.2:c.971T>G ENSP00000392245.2:p.Leu324Arg
ENST00000613192.2:c.*387T>G ENSP00000483275.2:n.*387T>G
ENST00000613374.5:c.914T>G ENSP00000484464.1:p.Leu305Arg
ENST00000613706.5:c.1916T>G ENSP00000484976.2:p.Leu639Arg
ENST00000617164.5:c.2267T>G ENSP00000480470.1:p.Leu756Arg
ENST00000619009.5:c.785T>G ENSP00000482293.1:p.Leu262Arg
ENST00000650978.1:c.3699T>G
ENST00000260947.8:c.2324T>G ENSP00000260947.4:p.Leu775Arg
ENST00000432456.5:c.467T>G
ENST00000471590.5:n.659T>G
ENST00000613192.1:c.494T>G ENSP00000483275.1:p.Leu165Arg
ENST00000613374.4:c.914T>G ENSP00000484464.1:p.Leu305Arg
ENST00000613706.4:c.971T>G ENSP00000484976.1:p.Leu324Arg
ENST00000617164.4:c.2267T>G ENSP00000480470.1:p.Leu756Arg
ENST00000619009.4:c.785T>G ENSP00000482293.1:p.Leu262Arg
ENST00000620057.4:c.*990T>G ENSP00000481988.1:n.*990T>G
NM_000465.3:c.2324T>G NP_000456.2:p.Leu775Arg
NM_001282543.1:c.2267T>G NP_001269472.1:p.Leu756Arg
NM_001282545.1:c.971T>G NP_001269474.1:p.Leu324Arg
NM_001282548.1:c.914T>G NP_001269477.1:p.Leu305Arg
NM_001282549.1:c.785T>G NP_001269478.1:p.Leu262Arg
NR_104212.1:n.2317T>G
NR_104215.1:n.2260T>G
NR_104216.1:n.1516T>G
XM_011511567.1:c.2270T>G XP_011509869.1:p.Leu757Arg
XM_017004613.1:c.2423T>G XP_016860102.1:p.Leu808Arg
XR_002959322.1:n.2690T>G
NM_000465.4:c.2324T>G MANE Select NP_000456.2:p.Leu775Arg
NM_001282543.2:c.2267T>G NP_001269472.1:p.Leu756Arg
NM_001282545.2:c.971T>G NP_001269474.1:p.Leu324Arg
NM_001282548.2:c.914T>G NP_001269477.1:p.Leu305Arg
NM_001282549.2:c.785T>G NP_001269478.1:p.Leu262Arg
NR_104212.2:n.2289T>G
NR_104215.2:n.2232T>G
NR_104216.2:n.1488T>G