Canonical Allele Identifier: CA1327046406

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730480T= , CM000664.2:g.214730480T=	GRCh38
NC_000002.11:g.215595204T= , CM000664.1:g.215595204T=	GRCh37
NC_000002.10:g.215303449T=	NCBI36
NG_012047.2:g.84225A=
NG_012047.3:g.84232A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1932A= MANE Select	ENSP00000260947.4:p.Val644=
ENST00000421162.2:c.579A=	ENSP00000392245.2:p.Val193=
ENST00000613192.2:c.187A=	ENSP00000483275.2:p.Met63=
ENST00000613374.5:c.522A=	ENSP00000484464.1:p.Val174=
ENST00000613706.5:c.1524A=	ENSP00000484976.2:p.Val508=
ENST00000617164.5:c.1875A=	ENSP00000480470.1:p.Val625=
ENST00000619009.5:c.393A=	ENSP00000482293.1:p.Val131=
ENST00000650978.1:c.3307A=
ENST00000260947.8:c.1932A=	ENSP00000260947.4:p.Val644=
ENST00000421162.1:c.579A=	ENSP00000392245.1:p.Val193=
ENST00000432456.5:c.29A=
ENST00000455743.5:c.*1552A=	ENSP00000412186.1:n.*1552A=
ENST00000471590.5:n.267A=
ENST00000613192.1:c.102A=	ENSP00000483275.1:p.Val34=
ENST00000613374.4:c.522A=	ENSP00000484464.1:p.Val174=
ENST00000613706.4:c.579A=	ENSP00000484976.1:p.Val193=
ENST00000617164.4:c.1875A=	ENSP00000480470.1:p.Val625=
ENST00000619009.4:c.393A=	ENSP00000482293.1:p.Val131=
ENST00000620057.4:c.*598A=	ENSP00000481988.1:n.*598A=
NM_000465.3:c.1932A=	NP_000456.2:p.Val644=
NM_001282543.1:c.1875A=	NP_001269472.1:p.Val625=
NM_001282545.1:c.579A=	NP_001269474.1:p.Val193=
NM_001282548.1:c.522A=	NP_001269477.1:p.Val174=
NM_001282549.1:c.393A=	NP_001269478.1:p.Val131=
NR_104212.1:n.1925A=
NR_104215.1:n.1868A=
NR_104216.1:n.1124A=
XM_011511567.1:c.1878A=	XP_011509869.1:p.Val626=
XM_017004613.1:c.2031A=	XP_016860102.1:p.Val677=
XR_002959322.1:n.2122A=
NM_000465.4:c.1932A= MANE Select	NP_000456.2:p.Val644=
NM_001282543.2:c.1875A=	NP_001269472.1:p.Val625=
NM_001282545.2:c.579A=	NP_001269474.1:p.Val193=
NM_001282548.2:c.522A=	NP_001269477.1:p.Val174=
NM_001282549.2:c.393A=	NP_001269478.1:p.Val131=
NR_104212.2:n.1897A=
NR_104215.2:n.1840A=
NR_104216.2:n.1096A=