Canonical Allele Identifier: CA1327045495

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728754C= , CM000664.2:g.214728754C=	GRCh38
NC_000002.11:g.215593478C= , CM000664.1:g.215593478C=	GRCh37
NC_000002.10:g.215301723C=	NCBI36
NG_012047.2:g.85951G=
NG_012047.3:g.85958G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2256G= MANE Select	ENSP00000260947.4:p.Gln752=
ENST00000421162.2:c.903G=	ENSP00000392245.2:p.Gln301=
ENST00000613192.2:c.*319G=	ENSP00000483275.2:n.*319G=
ENST00000613374.5:c.846G=	ENSP00000484464.1:p.Gln282=
ENST00000613706.5:c.1848G=	ENSP00000484976.2:p.Gln616=
ENST00000617164.5:c.2199G=	ENSP00000480470.1:p.Gln733=
ENST00000619009.5:c.717G=	ENSP00000482293.1:p.Gln239=
ENST00000650978.1:c.3631G=
ENST00000260947.8:c.2256G=	ENSP00000260947.4:p.Gln752=
ENST00000432456.5:c.399G=
ENST00000455743.5:c.*1876G=	ENSP00000412186.1:n.*1876G=
ENST00000471590.5:n.591G=
ENST00000613192.1:c.426G=	ENSP00000483275.1:p.Gln142=
ENST00000613374.4:c.846G=	ENSP00000484464.1:p.Gln282=
ENST00000613706.4:c.903G=	ENSP00000484976.1:p.Gln301=
ENST00000617164.4:c.2199G=	ENSP00000480470.1:p.Gln733=
ENST00000619009.4:c.717G=	ENSP00000482293.1:p.Gln239=
ENST00000620057.4:c.*922G=	ENSP00000481988.1:n.*922G=
NM_000465.3:c.2256G=	NP_000456.2:p.Gln752=
NM_001282543.1:c.2199G=	NP_001269472.1:p.Gln733=
NM_001282545.1:c.903G=	NP_001269474.1:p.Gln301=
NM_001282548.1:c.846G=	NP_001269477.1:p.Gln282=
NM_001282549.1:c.717G=	NP_001269478.1:p.Gln239=
NR_104212.1:n.2249G=
NR_104215.1:n.2192G=
NR_104216.1:n.1448G=
XM_011511567.1:c.2202G=	XP_011509869.1:p.Gln734=
XM_017004613.1:c.2355G=	XP_016860102.1:p.Gln785=
XR_002959322.1:n.2622G=
NM_000465.4:c.2256G= MANE Select	NP_000456.2:p.Gln752=
NM_001282543.2:c.2199G=	NP_001269472.1:p.Gln733=
NM_001282545.2:c.903G=	NP_001269474.1:p.Gln301=
NM_001282548.2:c.846G=	NP_001269477.1:p.Gln282=
NM_001282549.2:c.717G=	NP_001269478.1:p.Gln239=
NR_104212.2:n.2221G=
NR_104215.2:n.2164G=
NR_104216.2:n.1420G=