Canonical Allele Identifier: CA350449792
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728708T>C , CM000664.2:g.214728708T>C GRCh38
NC_000002.11:g.215593432T>C , CM000664.1:g.215593432T>C GRCh37
NC_000002.10:g.215301677T>C NCBI36
NG_012047.2:g.85997A>G
NG_012047.3:g.86004A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2302A>G MANE Select ENSP00000260947.4:p.Met768Val
ENST00000421162.2:c.949A>G ENSP00000392245.2:p.Met317Val
ENST00000613192.2:c.*365A>G ENSP00000483275.2:n.*365A>G
ENST00000613374.5:c.892A>G ENSP00000484464.1:p.Met298Val
ENST00000613706.5:c.1894A>G ENSP00000484976.2:p.Met632Val
ENST00000617164.5:c.2245A>G ENSP00000480470.1:p.Met749Val
ENST00000619009.5:c.763A>G ENSP00000482293.1:p.Met255Val
ENST00000650978.1:c.3677A>G
ENST00000260947.8:c.2302A>G ENSP00000260947.4:p.Met768Val
ENST00000432456.5:c.445A>G
ENST00000455743.5:c.*1922A>G ENSP00000412186.1:n.*1922A>G
ENST00000471590.5:n.637A>G
ENST00000613192.1:c.472A>G ENSP00000483275.1:p.Met158Val
ENST00000613374.4:c.892A>G ENSP00000484464.1:p.Met298Val
ENST00000613706.4:c.949A>G ENSP00000484976.1:p.Met317Val
ENST00000617164.4:c.2245A>G ENSP00000480470.1:p.Met749Val
ENST00000619009.4:c.763A>G ENSP00000482293.1:p.Met255Val
ENST00000620057.4:c.*968A>G ENSP00000481988.1:n.*968A>G
NM_000465.3:c.2302A>G NP_000456.2:p.Met768Val
NM_001282543.1:c.2245A>G NP_001269472.1:p.Met749Val
NM_001282545.1:c.949A>G NP_001269474.1:p.Met317Val
NM_001282548.1:c.892A>G NP_001269477.1:p.Met298Val
NM_001282549.1:c.763A>G NP_001269478.1:p.Met255Val
NR_104212.1:n.2295A>G
NR_104215.1:n.2238A>G
NR_104216.1:n.1494A>G
XM_011511567.1:c.2248A>G XP_011509869.1:p.Met750Val
XM_017004613.1:c.2401A>G XP_016860102.1:p.Met801Val
XR_002959322.1:n.2668A>G
NM_000465.4:c.2302A>G MANE Select NP_000456.2:p.Met768Val
NM_001282543.2:c.2245A>G NP_001269472.1:p.Met749Val
NM_001282545.2:c.949A>G NP_001269474.1:p.Met317Val
NM_001282548.2:c.892A>G NP_001269477.1:p.Met298Val
NM_001282549.2:c.763A>G NP_001269478.1:p.Met255Val
NR_104212.2:n.2267A>G
NR_104215.2:n.2210A>G
NR_104216.2:n.1466A>G