Canonical Allele Identifier: CA350451254
Community Standard Title: NM_000465.4(BARD1):c.1930G>A (p.Val644Ile)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730482C>T , CM000664.2:g.214730482C>T GRCh38
NC_000002.11:g.215595206C>T , CM000664.1:g.215595206C>T GRCh37
NC_000002.10:g.215303451C>T NCBI36
NG_012047.2:g.84223G>A
NG_012047.3:g.84230G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.1930G>A MANE Select NP_000456.2:p.Val644Ile
ENST00000260947.9:c.1930G>A MANE Select ENSP00000260947.4:p.Val644Ile
NM_000465.3:c.1930G>A NP_000456.2:p.Val644Ile
NM_001282543.1:c.1873G>A NP_001269472.1:p.Val625Ile
NM_001282543.2:c.1873G>A NP_001269472.1:p.Val625Ile
NM_001282545.1:c.577G>A NP_001269474.1:p.Val193Ile
NM_001282545.2:c.577G>A NP_001269474.1:p.Val193Ile
NM_001282548.1:c.520G>A NP_001269477.1:p.Val174Ile
NM_001282548.2:c.520G>A NP_001269477.1:p.Val174Ile
NM_001282549.1:c.391G>A NP_001269478.1:p.Val131Ile
NM_001282549.2:c.391G>A NP_001269478.1:p.Val131Ile
NR_104212.1:n.1923G>A
NR_104212.2:n.1895G>A
NR_104215.1:n.1866G>A
NR_104215.2:n.1838G>A
NR_104216.1:n.1122G>A
NR_104216.2:n.1094G>A
ENST00000260947.8:c.1930G>A ENSP00000260947.4:p.Val644Ile
ENST00000421162.1:c.577G>A ENSP00000392245.1:p.Val193Ile
ENST00000421162.2:c.577G>A ENSP00000392245.2:p.Val193Ile
ENST00000432456.5:c.27G>A
ENST00000455743.5:c.*1550G>A ENSP00000412186.1:n.*1550G>A
ENST00000471590.5:n.265G>A
ENST00000613192.1:c.100G>A ENSP00000483275.1:p.Val34Ile
ENST00000613192.2:c.185G>A ENSP00000483275.2:p.Ser62Asn
ENST00000613374.4:c.520G>A ENSP00000484464.1:p.Val174Ile
ENST00000613374.5:c.520G>A ENSP00000484464.1:p.Val174Ile
ENST00000613706.4:c.577G>A ENSP00000484976.1:p.Val193Ile
ENST00000613706.5:c.1522G>A ENSP00000484976.2:p.Val508Ile
ENST00000617164.4:c.1873G>A ENSP00000480470.1:p.Val625Ile
ENST00000617164.5:c.1873G>A ENSP00000480470.1:p.Val625Ile
ENST00000619009.4:c.391G>A ENSP00000482293.1:p.Val131Ile
ENST00000619009.5:c.391G>A ENSP00000482293.1:p.Val131Ile
ENST00000620057.4:c.*596G>A ENSP00000481988.1:n.*596G>A
ENST00000650978.1:c.3305G>A
XM_011511567.1:c.1876G>A XP_011509869.1:p.Val626Ile
XM_017004613.1:c.2029G>A XP_016860102.1:p.Val677Ile
XR_002959322.1:n.2120G>A