Canonical Allele Identifier: CA350457477

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781356G>A , CM000664.2:g.214781356G>A	GRCh38
NC_000002.11:g.215646080G>A , CM000664.1:g.215646080G>A	GRCh37
NC_000002.10:g.215354325G>A	NCBI36
NG_012047.2:g.33349C>T
NG_012047.3:g.33356C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.518C>T MANE Select	NP_000456.2:p.Ala173Val
ENST00000260947.9:c.518C>T MANE Select	ENSP00000260947.4:p.Ala173Val
NM_000465.3:c.518C>T	NP_000456.2:p.Ala173Val
NM_001282543.1:c.461C>T	NP_001269472.1:p.Ala154Val
NM_001282543.2:c.461C>T	NP_001269472.1:p.Ala154Val
NM_001282545.1:c.215+15705C>T	NP_001269474.1:n.215+15705C>T
NM_001282545.2:c.215+15705C>T	NP_001269474.1:n.215+15705C>T
NM_001282548.1:c.158+28056C>T	NP_001269477.1:n.158+28056C>T
NM_001282548.2:c.158+28056C>T	NP_001269477.1:n.158+28056C>T
NM_001282549.1:c.364+10941C>T	NP_001269478.1:n.364+10941C>T
NM_001282549.2:c.364+10941C>T	NP_001269478.1:n.364+10941C>T
NR_104212.1:n.511C>T
NR_104212.2:n.483C>T
NR_104215.1:n.454C>T
NR_104215.2:n.426C>T
NR_104216.1:n.506+10941C>T
NR_104216.2:n.478+10941C>T
ENST00000260947.8:c.518C>T	ENSP00000260947.4:p.Ala173Val
ENST00000421162.1:c.215+15705C>T	ENSP00000392245.1:n.215+15705C>T
ENST00000421162.2:c.215+15705C>T	ENSP00000392245.2:n.215+15705C>T
ENST00000455743.5:c.*138C>T	ENSP00000412186.1:n.*138C>T
ENST00000471787.1:n.413C>T
ENST00000613192.1:c.73+28056C>T	ENSP00000483275.1:n.73+28056C>T
ENST00000613192.2:c.158+28056C>T	ENSP00000483275.2:n.158+28056C>T
ENST00000613374.4:c.158+28056C>T	ENSP00000484464.1:n.158+28056C>T
ENST00000613374.5:c.158+28056C>T	ENSP00000484464.1:n.158+28056C>T
ENST00000613706.4:c.215+15705C>T	ENSP00000484976.1:n.215+15705C>T
ENST00000613706.5:c.518C>T	ENSP00000484976.2:p.Ala173Val
ENST00000617164.4:c.461C>T	ENSP00000480470.1:p.Ala154Val
ENST00000617164.5:c.461C>T	ENSP00000480470.1:p.Ala154Val
ENST00000619009.4:c.364+10941C>T	ENSP00000482293.1:n.364+10941C>T
ENST00000619009.5:c.364+10941C>T	ENSP00000482293.1:n.364+10941C>T
ENST00000620057.4:c.364+10941C>T	ENSP00000481988.1:n.364+10941C>T
ENST00000650978.1:c.360C>T
XM_011511567.1:c.464C>T	XP_011509869.1:p.Ala155Val
XM_011511568.1:c.518C>T	XP_011509870.1:p.Ala173Val
XM_017004613.1:c.617C>T	XP_016860102.1:p.Ala206Val
XM_017004614.1:c.617C>T	XP_016860103.1:p.Ala206Val
XR_002959322.1:n.708C>T