Canonical Allele Identifier: CA350449936
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728734G>C , CM000664.2:g.214728734G>C GRCh38
NC_000002.11:g.215593458G>C , CM000664.1:g.215593458G>C GRCh37
NC_000002.10:g.215301703G>C NCBI36
NG_012047.2:g.85971C>G
NG_012047.3:g.85978C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2276C>G MANE Select ENSP00000260947.4:p.Pro759Arg
ENST00000421162.2:c.923C>G ENSP00000392245.2:p.Pro308Arg
ENST00000613192.2:c.*339C>G ENSP00000483275.2:n.*339C>G
ENST00000613374.5:c.866C>G ENSP00000484464.1:p.Pro289Arg
ENST00000613706.5:c.1868C>G ENSP00000484976.2:p.Pro623Arg
ENST00000617164.5:c.2219C>G ENSP00000480470.1:p.Pro740Arg
ENST00000619009.5:c.737C>G ENSP00000482293.1:p.Pro246Arg
ENST00000650978.1:c.3651C>G
ENST00000260947.8:c.2276C>G ENSP00000260947.4:p.Pro759Arg
ENST00000432456.5:c.419C>G
ENST00000455743.5:c.*1896C>G ENSP00000412186.1:n.*1896C>G
ENST00000471590.5:n.611C>G
ENST00000613192.1:c.446C>G ENSP00000483275.1:p.Pro149Arg
ENST00000613374.4:c.866C>G ENSP00000484464.1:p.Pro289Arg
ENST00000613706.4:c.923C>G ENSP00000484976.1:p.Pro308Arg
ENST00000617164.4:c.2219C>G ENSP00000480470.1:p.Pro740Arg
ENST00000619009.4:c.737C>G ENSP00000482293.1:p.Pro246Arg
ENST00000620057.4:c.*942C>G ENSP00000481988.1:n.*942C>G
NM_000465.3:c.2276C>G NP_000456.2:p.Pro759Arg
NM_001282543.1:c.2219C>G NP_001269472.1:p.Pro740Arg
NM_001282545.1:c.923C>G NP_001269474.1:p.Pro308Arg
NM_001282548.1:c.866C>G NP_001269477.1:p.Pro289Arg
NM_001282549.1:c.737C>G NP_001269478.1:p.Pro246Arg
NR_104212.1:n.2269C>G
NR_104215.1:n.2212C>G
NR_104216.1:n.1468C>G
XM_011511567.1:c.2222C>G XP_011509869.1:p.Pro741Arg
XM_017004613.1:c.2375C>G XP_016860102.1:p.Pro792Arg
XR_002959322.1:n.2642C>G
NM_000465.4:c.2276C>G MANE Select NP_000456.2:p.Pro759Arg
NM_001282543.2:c.2219C>G NP_001269472.1:p.Pro740Arg
NM_001282545.2:c.923C>G NP_001269474.1:p.Pro308Arg
NM_001282548.2:c.866C>G NP_001269477.1:p.Pro289Arg
NM_001282549.2:c.737C>G NP_001269478.1:p.Pro246Arg
NR_104212.2:n.2241C>G
NR_104215.2:n.2184C>G
NR_104216.2:n.1440C>G