Canonical Allele Identifier: CA350454418

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780871T>A , CM000664.2:g.214780871T>A	GRCh38
NC_000002.11:g.215645595T>A , CM000664.1:g.215645595T>A	GRCh37
NC_000002.10:g.215353840T>A	NCBI36
NG_012047.2:g.33834A>T
NG_012047.3:g.33841A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1003A>T MANE Select	NP_000456.2:p.Arg335Ter
ENST00000260947.9:c.1003A>T MANE Select	ENSP00000260947.4:p.Arg335Ter
NM_000465.3:c.1003A>T	NP_000456.2:p.Arg335Ter
NM_001282543.1:c.946A>T	NP_001269472.1:p.Arg316Ter
NM_001282543.2:c.946A>T	NP_001269472.1:p.Arg316Ter
NM_001282545.1:c.215+16190A>T	NP_001269474.1:n.215+16190A>T
NM_001282545.2:c.215+16190A>T	NP_001269474.1:n.215+16190A>T
NM_001282548.1:c.159-28316A>T	NP_001269477.1:n.159-28316A>T
NM_001282548.2:c.159-28316A>T	NP_001269477.1:n.159-28316A>T
NM_001282549.1:c.364+11426A>T	NP_001269478.1:n.364+11426A>T
NM_001282549.2:c.364+11426A>T	NP_001269478.1:n.364+11426A>T
NR_104212.1:n.996A>T
NR_104212.2:n.968A>T
NR_104215.1:n.939A>T
NR_104215.2:n.911A>T
NR_104216.1:n.506+11426A>T
NR_104216.2:n.478+11426A>T
ENST00000260947.8:c.1003A>T	ENSP00000260947.4:p.Arg335Ter
ENST00000421162.1:c.215+16190A>T	ENSP00000392245.1:n.215+16190A>T
ENST00000421162.2:c.215+16190A>T	ENSP00000392245.2:n.215+16190A>T
ENST00000455743.5:c.*623A>T	ENSP00000412186.1:n.*623A>T
ENST00000613192.1:c.73+28541A>T	ENSP00000483275.1:n.73+28541A>T
ENST00000613192.2:c.158+28541A>T	ENSP00000483275.2:n.158+28541A>T
ENST00000613374.4:c.159-28316A>T	ENSP00000484464.1:n.159-28316A>T
ENST00000613374.5:c.159-28316A>T	ENSP00000484464.1:n.159-28316A>T
ENST00000613706.4:c.215+16190A>T	ENSP00000484976.1:n.215+16190A>T
ENST00000613706.5:c.906+97A>T	ENSP00000484976.2:n.906+97A>T
ENST00000617164.4:c.946A>T	ENSP00000480470.1:p.Arg316Ter
ENST00000617164.5:c.946A>T	ENSP00000480470.1:p.Arg316Ter
ENST00000619009.4:c.364+11426A>T	ENSP00000482293.1:n.364+11426A>T
ENST00000619009.5:c.364+11426A>T	ENSP00000482293.1:n.364+11426A>T
ENST00000620057.4:c.364+11426A>T	ENSP00000481988.1:n.364+11426A>T
ENST00000650978.1:c.845A>T
XM_011511567.1:c.949A>T	XP_011509869.1:p.Arg317Ter
XM_011511568.1:c.1003A>T	XP_011509870.1:p.Arg335Ter
XM_017004613.1:c.1102A>T	XP_016860102.1:p.Arg368Ter
XM_017004614.1:c.1102A>T	XP_016860103.1:p.Arg368Ter
XR_002959322.1:n.1193A>T