Canonical Allele Identifier: CA1327045497

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728756G= , CM000664.2:g.214728756G=	GRCh38
NC_000002.11:g.215593480G= , CM000664.1:g.215593480G=	GRCh37
NC_000002.10:g.215301725G=	NCBI36
NG_012047.2:g.85949C=
NG_012047.3:g.85956C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2254C= MANE Select	ENSP00000260947.4:p.Gln752=
ENST00000421162.2:c.901C=	ENSP00000392245.2:p.Gln301=
ENST00000613192.2:c.*317C=	ENSP00000483275.2:n.*317C=
ENST00000613374.5:c.844C=	ENSP00000484464.1:p.Gln282=
ENST00000613706.5:c.1846C=	ENSP00000484976.2:p.Gln616=
ENST00000617164.5:c.2197C=	ENSP00000480470.1:p.Gln733=
ENST00000619009.5:c.715C=	ENSP00000482293.1:p.Gln239=
ENST00000650978.1:c.3629C=
ENST00000260947.8:c.2254C=	ENSP00000260947.4:p.Gln752=
ENST00000432456.5:c.397C=
ENST00000455743.5:c.*1874C=	ENSP00000412186.1:n.*1874C=
ENST00000471590.5:n.589C=
ENST00000613192.1:c.424C=	ENSP00000483275.1:p.Gln142=
ENST00000613374.4:c.844C=	ENSP00000484464.1:p.Gln282=
ENST00000613706.4:c.901C=	ENSP00000484976.1:p.Gln301=
ENST00000617164.4:c.2197C=	ENSP00000480470.1:p.Gln733=
ENST00000619009.4:c.715C=	ENSP00000482293.1:p.Gln239=
ENST00000620057.4:c.*920C=	ENSP00000481988.1:n.*920C=
NM_000465.3:c.2254C=	NP_000456.2:p.Gln752=
NM_001282543.1:c.2197C=	NP_001269472.1:p.Gln733=
NM_001282545.1:c.901C=	NP_001269474.1:p.Gln301=
NM_001282548.1:c.844C=	NP_001269477.1:p.Gln282=
NM_001282549.1:c.715C=	NP_001269478.1:p.Gln239=
NR_104212.1:n.2247C=
NR_104215.1:n.2190C=
NR_104216.1:n.1446C=
XM_011511567.1:c.2200C=	XP_011509869.1:p.Gln734=
XM_017004613.1:c.2353C=	XP_016860102.1:p.Gln785=
XR_002959322.1:n.2620C=
NM_000465.4:c.2254C= MANE Select	NP_000456.2:p.Gln752=
NM_001282543.2:c.2197C=	NP_001269472.1:p.Gln733=
NM_001282545.2:c.901C=	NP_001269474.1:p.Gln301=
NM_001282548.2:c.844C=	NP_001269477.1:p.Gln282=
NM_001282549.2:c.715C=	NP_001269478.1:p.Gln239=
NR_104212.2:n.2219C=
NR_104215.2:n.2162C=
NR_104216.2:n.1418C=