Canonical Allele Identifier: CA350450272
Community Standard Title: NM_000465.4(BARD1):c.2196C>G (p.Phe732Leu)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728814G>C , CM000664.2:g.214728814G>C GRCh38
NC_000002.11:g.215593538G>C , CM000664.1:g.215593538G>C GRCh37
NC_000002.10:g.215301783G>C NCBI36
NG_012047.2:g.85891C>G
NG_012047.3:g.85898C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2196C>G MANE Select NP_000456.2:p.Phe732Leu
ENST00000260947.9:c.2196C>G MANE Select ENSP00000260947.4:p.Phe732Leu
NM_000465.3:c.2196C>G NP_000456.2:p.Phe732Leu
NM_001282543.1:c.2139C>G NP_001269472.1:p.Phe713Leu
NM_001282543.2:c.2139C>G NP_001269472.1:p.Phe713Leu
NM_001282545.1:c.843C>G NP_001269474.1:p.Phe281Leu
NM_001282545.2:c.843C>G NP_001269474.1:p.Phe281Leu
NM_001282548.1:c.786C>G NP_001269477.1:p.Phe262Leu
NM_001282548.2:c.786C>G NP_001269477.1:p.Phe262Leu
NM_001282549.1:c.657C>G NP_001269478.1:p.Phe219Leu
NM_001282549.2:c.657C>G NP_001269478.1:p.Phe219Leu
NR_104212.1:n.2189C>G
NR_104212.2:n.2161C>G
NR_104215.1:n.2132C>G
NR_104215.2:n.2104C>G
NR_104216.1:n.1388C>G
NR_104216.2:n.1360C>G
ENST00000260947.8:c.2196C>G ENSP00000260947.4:p.Phe732Leu
ENST00000421162.2:c.843C>G ENSP00000392245.2:p.Phe281Leu
ENST00000432456.5:c.339C>G
ENST00000455743.5:c.*1816C>G ENSP00000412186.1:n.*1816C>G
ENST00000471590.5:n.531C>G
ENST00000613192.1:c.366C>G ENSP00000483275.1:p.Phe122Leu
ENST00000613192.2:c.*259C>G ENSP00000483275.2:n.*259C>G
ENST00000613374.4:c.786C>G ENSP00000484464.1:p.Phe262Leu
ENST00000613374.5:c.786C>G ENSP00000484464.1:p.Phe262Leu
ENST00000613706.4:c.843C>G ENSP00000484976.1:p.Phe281Leu
ENST00000613706.5:c.1788C>G ENSP00000484976.2:p.Phe596Leu
ENST00000617164.4:c.2139C>G ENSP00000480470.1:p.Phe713Leu
ENST00000617164.5:c.2139C>G ENSP00000480470.1:p.Phe713Leu
ENST00000619009.4:c.657C>G ENSP00000482293.1:p.Phe219Leu
ENST00000619009.5:c.657C>G ENSP00000482293.1:p.Phe219Leu
ENST00000620057.4:c.*862C>G ENSP00000481988.1:n.*862C>G
ENST00000650978.1:c.3571C>G
XM_011511567.1:c.2142C>G XP_011509869.1:p.Phe714Leu
XM_017004613.1:c.2295C>G XP_016860102.1:p.Phe765Leu
XR_002959322.1:n.2562C>G