Canonical Allele Identifier: CA166844

Gene: BARD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728927C>T , CM000664.2:g.214728927C>T	GRCh38
NC_000002.11:g.215593651C>T , CM000664.1:g.215593651C>T	GRCh37
NC_000002.10:g.215301896C>T	NCBI36
NG_012047.2:g.85778G>A
NG_012047.3:g.85785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2083G>A MANE Select	ENSP00000260947.4:p.Val695Ile
ENST00000421162.2:c.730G>A	ENSP00000392245.2:p.Val244Ile
ENST00000613192.2:c.*146G>A	ENSP00000483275.2:n.*146G>A
ENST00000613374.5:c.673G>A	ENSP00000484464.1:p.Val225Ile
ENST00000613706.5:c.1675G>A	ENSP00000484976.2:p.Val559Ile
ENST00000617164.5:c.2026G>A	ENSP00000480470.1:p.Val676Ile
ENST00000619009.5:c.544G>A	ENSP00000482293.1:p.Val182Ile
ENST00000650978.1:c.3458G>A
ENST00000260947.8:c.2083G>A	ENSP00000260947.4:p.Val695Ile
ENST00000432456.5:c.226G>A
ENST00000455743.5:c.*1703G>A	ENSP00000412186.1:n.*1703G>A
ENST00000471590.5:n.418G>A
ENST00000613192.1:c.253G>A	ENSP00000483275.1:p.Val85Ile
ENST00000613374.4:c.673G>A	ENSP00000484464.1:p.Val225Ile
ENST00000613706.4:c.730G>A	ENSP00000484976.1:p.Val244Ile
ENST00000617164.4:c.2026G>A	ENSP00000480470.1:p.Val676Ile
ENST00000619009.4:c.544G>A	ENSP00000482293.1:p.Val182Ile
ENST00000620057.4:c.*749G>A	ENSP00000481988.1:n.*749G>A
NM_000465.3:c.2083G>A	NP_000456.2:p.Val695Ile
NM_001282543.1:c.2026G>A	NP_001269472.1:p.Val676Ile
NM_001282545.1:c.730G>A	NP_001269474.1:p.Val244Ile
NM_001282548.1:c.673G>A	NP_001269477.1:p.Val225Ile
NM_001282549.1:c.544G>A	NP_001269478.1:p.Val182Ile
NR_104212.1:n.2076G>A
NR_104215.1:n.2019G>A
NR_104216.1:n.1275G>A
XM_011511567.1:c.2029G>A	XP_011509869.1:p.Val677Ile
XM_017004613.1:c.2182G>A	XP_016860102.1:p.Val728Ile
XR_002959322.1:n.2449G>A
NM_000465.4:c.2083G>A MANE Select	NP_000456.2:p.Val695Ile
NM_001282543.2:c.2026G>A	NP_001269472.1:p.Val676Ile
NM_001282545.2:c.730G>A	NP_001269474.1:p.Val244Ile
NM_001282548.2:c.673G>A	NP_001269477.1:p.Val225Ile
NM_001282549.2:c.544G>A	NP_001269478.1:p.Val182Ile
NR_104212.2:n.2048G>A
NR_104215.2:n.1991G>A
NR_104216.2:n.1247G>A