Canonical Allele Identifier: CA1327045479

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728737G= , CM000664.2:g.214728737G=	GRCh38
NC_000002.11:g.215593461G= , CM000664.1:g.215593461G=	GRCh37
NC_000002.10:g.215301706G=	NCBI36
NG_012047.2:g.85968C=
NG_012047.3:g.85975C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2273C= MANE Select	ENSP00000260947.4:p.Ala758=
ENST00000421162.2:c.920C=	ENSP00000392245.2:p.Ala307=
ENST00000613192.2:c.*336C=	ENSP00000483275.2:n.*336C=
ENST00000613374.5:c.863C=	ENSP00000484464.1:p.Ala288=
ENST00000613706.5:c.1865C=	ENSP00000484976.2:p.Ala622=
ENST00000617164.5:c.2216C=	ENSP00000480470.1:p.Ala739=
ENST00000619009.5:c.734C=	ENSP00000482293.1:p.Ala245=
ENST00000650978.1:c.3648C=
ENST00000260947.8:c.2273C=	ENSP00000260947.4:p.Ala758=
ENST00000432456.5:c.416C=
ENST00000455743.5:c.*1893C=	ENSP00000412186.1:n.*1893C=
ENST00000471590.5:n.608C=
ENST00000613192.1:c.443C=	ENSP00000483275.1:p.Ala148=
ENST00000613374.4:c.863C=	ENSP00000484464.1:p.Ala288=
ENST00000613706.4:c.920C=	ENSP00000484976.1:p.Ala307=
ENST00000617164.4:c.2216C=	ENSP00000480470.1:p.Ala739=
ENST00000619009.4:c.734C=	ENSP00000482293.1:p.Ala245=
ENST00000620057.4:c.*939C=	ENSP00000481988.1:n.*939C=
NM_000465.3:c.2273C=	NP_000456.2:p.Ala758=
NM_001282543.1:c.2216C=	NP_001269472.1:p.Ala739=
NM_001282545.1:c.920C=	NP_001269474.1:p.Ala307=
NM_001282548.1:c.863C=	NP_001269477.1:p.Ala288=
NM_001282549.1:c.734C=	NP_001269478.1:p.Ala245=
NR_104212.1:n.2266C=
NR_104215.1:n.2209C=
NR_104216.1:n.1465C=
XM_011511567.1:c.2219C=	XP_011509869.1:p.Ala740=
XM_017004613.1:c.2372C=	XP_016860102.1:p.Ala791=
XR_002959322.1:n.2639C=
NM_000465.4:c.2273C= MANE Select	NP_000456.2:p.Ala758=
NM_001282543.2:c.2216C=	NP_001269472.1:p.Ala739=
NM_001282545.2:c.920C=	NP_001269474.1:p.Ala307=
NM_001282548.2:c.863C=	NP_001269477.1:p.Ala288=
NM_001282549.2:c.734C=	NP_001269478.1:p.Ala245=
NR_104212.2:n.2238C=
NR_104215.2:n.2181C=
NR_104216.2:n.1437C=