Canonical Allele Identifier: CA350449966
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728747C>A , CM000664.2:g.214728747C>A GRCh38
NC_000002.11:g.215593471C>A , CM000664.1:g.215593471C>A GRCh37
NC_000002.10:g.215301716C>A NCBI36
NG_012047.2:g.85958G>T
NG_012047.3:g.85965G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2263G>T MANE Select ENSP00000260947.4:p.Val755Phe
ENST00000421162.2:c.910G>T ENSP00000392245.2:p.Val304Phe
ENST00000613192.2:c.*326G>T ENSP00000483275.2:n.*326G>T
ENST00000613374.5:c.853G>T ENSP00000484464.1:p.Val285Phe
ENST00000613706.5:c.1855G>T ENSP00000484976.2:p.Val619Phe
ENST00000617164.5:c.2206G>T ENSP00000480470.1:p.Val736Phe
ENST00000619009.5:c.724G>T ENSP00000482293.1:p.Val242Phe
ENST00000650978.1:c.3638G>T
ENST00000260947.8:c.2263G>T ENSP00000260947.4:p.Val755Phe
ENST00000432456.5:c.406G>T
ENST00000455743.5:c.*1883G>T ENSP00000412186.1:n.*1883G>T
ENST00000471590.5:n.598G>T
ENST00000613192.1:c.433G>T ENSP00000483275.1:p.Val145Phe
ENST00000613374.4:c.853G>T ENSP00000484464.1:p.Val285Phe
ENST00000613706.4:c.910G>T ENSP00000484976.1:p.Val304Phe
ENST00000617164.4:c.2206G>T ENSP00000480470.1:p.Val736Phe
ENST00000619009.4:c.724G>T ENSP00000482293.1:p.Val242Phe
ENST00000620057.4:c.*929G>T ENSP00000481988.1:n.*929G>T
NM_000465.3:c.2263G>T NP_000456.2:p.Val755Phe
NM_001282543.1:c.2206G>T NP_001269472.1:p.Val736Phe
NM_001282545.1:c.910G>T NP_001269474.1:p.Val304Phe
NM_001282548.1:c.853G>T NP_001269477.1:p.Val285Phe
NM_001282549.1:c.724G>T NP_001269478.1:p.Val242Phe
NR_104212.1:n.2256G>T
NR_104215.1:n.2199G>T
NR_104216.1:n.1455G>T
XM_011511567.1:c.2209G>T XP_011509869.1:p.Val737Phe
XM_017004613.1:c.2362G>T XP_016860102.1:p.Val788Phe
XR_002959322.1:n.2629G>T
NM_000465.4:c.2263G>T MANE Select NP_000456.2:p.Val755Phe
NM_001282543.2:c.2206G>T NP_001269472.1:p.Val736Phe
NM_001282545.2:c.910G>T NP_001269474.1:p.Val304Phe
NM_001282548.2:c.853G>T NP_001269477.1:p.Val285Phe
NM_001282549.2:c.724G>T NP_001269478.1:p.Val242Phe
NR_104212.2:n.2228G>T
NR_104215.2:n.2171G>T
NR_104216.2:n.1427G>T