Canonical Allele Identifier: CA1327045470

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728728C= , CM000664.2:g.214728728C=	GRCh38
NC_000002.11:g.215593452C= , CM000664.1:g.215593452C=	GRCh37
NC_000002.10:g.215301697C=	NCBI36
NG_012047.2:g.85977G=
NG_012047.3:g.85984G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2282G= MANE Select	ENSP00000260947.4:p.Ser761=
ENST00000421162.2:c.929G=	ENSP00000392245.2:p.Ser310=
ENST00000613192.2:c.*345G=	ENSP00000483275.2:n.*345G=
ENST00000613374.5:c.872G=	ENSP00000484464.1:p.Ser291=
ENST00000613706.5:c.1874G=	ENSP00000484976.2:p.Ser625=
ENST00000617164.5:c.2225G=	ENSP00000480470.1:p.Ser742=
ENST00000619009.5:c.743G=	ENSP00000482293.1:p.Ser248=
ENST00000650978.1:c.3657G=
ENST00000260947.8:c.2282G=	ENSP00000260947.4:p.Ser761=
ENST00000432456.5:c.425G=
ENST00000455743.5:c.*1902G=	ENSP00000412186.1:n.*1902G=
ENST00000471590.5:n.617G=
ENST00000613192.1:c.452G=	ENSP00000483275.1:p.Ser151=
ENST00000613374.4:c.872G=	ENSP00000484464.1:p.Ser291=
ENST00000613706.4:c.929G=	ENSP00000484976.1:p.Ser310=
ENST00000617164.4:c.2225G=	ENSP00000480470.1:p.Ser742=
ENST00000619009.4:c.743G=	ENSP00000482293.1:p.Ser248=
ENST00000620057.4:c.*948G=	ENSP00000481988.1:n.*948G=
NM_000465.3:c.2282G=	NP_000456.2:p.Ser761=
NM_001282543.1:c.2225G=	NP_001269472.1:p.Ser742=
NM_001282545.1:c.929G=	NP_001269474.1:p.Ser310=
NM_001282548.1:c.872G=	NP_001269477.1:p.Ser291=
NM_001282549.1:c.743G=	NP_001269478.1:p.Ser248=
NR_104212.1:n.2275G=
NR_104215.1:n.2218G=
NR_104216.1:n.1474G=
XM_011511567.1:c.2228G=	XP_011509869.1:p.Ser743=
XM_017004613.1:c.2381G=	XP_016860102.1:p.Ser794=
XR_002959322.1:n.2648G=
NM_000465.4:c.2282G= MANE Select	NP_000456.2:p.Ser761=
NM_001282543.2:c.2225G=	NP_001269472.1:p.Ser742=
NM_001282545.2:c.929G=	NP_001269474.1:p.Ser310=
NM_001282548.2:c.872G=	NP_001269477.1:p.Ser291=
NM_001282549.2:c.743G=	NP_001269478.1:p.Ser248=
NR_104212.2:n.2247G=
NR_104215.2:n.2190G=
NR_104216.2:n.1446G=