Canonical Allele Identifier: CA350449697

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728693G>A , CM000664.2:g.214728693G>A	GRCh38
NC_000002.11:g.215593417G>A , CM000664.1:g.215593417G>A	GRCh37
NC_000002.10:g.215301662G>A	NCBI36
NG_012047.2:g.86012C>T
NG_012047.3:g.86019C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.2317C>T MANE Select	NP_000456.2:p.Leu773Phe
ENST00000260947.9:c.2317C>T MANE Select	ENSP00000260947.4:p.Leu773Phe
NM_000465.3:c.2317C>T	NP_000456.2:p.Leu773Phe
NM_001282543.1:c.2260C>T	NP_001269472.1:p.Leu754Phe
NM_001282543.2:c.2260C>T	NP_001269472.1:p.Leu754Phe
NM_001282545.1:c.964C>T	NP_001269474.1:p.Leu322Phe
NM_001282545.2:c.964C>T	NP_001269474.1:p.Leu322Phe
NM_001282548.1:c.907C>T	NP_001269477.1:p.Leu303Phe
NM_001282548.2:c.907C>T	NP_001269477.1:p.Leu303Phe
NM_001282549.1:c.778C>T	NP_001269478.1:p.Leu260Phe
NM_001282549.2:c.778C>T	NP_001269478.1:p.Leu260Phe
NR_104212.1:n.2310C>T
NR_104212.2:n.2282C>T
NR_104215.1:n.2253C>T
NR_104215.2:n.2225C>T
NR_104216.1:n.1509C>T
NR_104216.2:n.1481C>T
ENST00000260947.8:c.2317C>T	ENSP00000260947.4:p.Leu773Phe
ENST00000421162.2:c.964C>T	ENSP00000392245.2:p.Leu322Phe
ENST00000432456.5:c.460C>T
ENST00000471590.5:n.652C>T
ENST00000613192.1:c.487C>T	ENSP00000483275.1:p.Leu163Phe
ENST00000613192.2:c.*380C>T	ENSP00000483275.2:n.*380C>T
ENST00000613374.4:c.907C>T	ENSP00000484464.1:p.Leu303Phe
ENST00000613374.5:c.907C>T	ENSP00000484464.1:p.Leu303Phe
ENST00000613706.4:c.964C>T	ENSP00000484976.1:p.Leu322Phe
ENST00000613706.5:c.1909C>T	ENSP00000484976.2:p.Leu637Phe
ENST00000617164.4:c.2260C>T	ENSP00000480470.1:p.Leu754Phe
ENST00000617164.5:c.2260C>T	ENSP00000480470.1:p.Leu754Phe
ENST00000619009.4:c.778C>T	ENSP00000482293.1:p.Leu260Phe
ENST00000619009.5:c.778C>T	ENSP00000482293.1:p.Leu260Phe
ENST00000620057.4:c.*983C>T	ENSP00000481988.1:n.*983C>T
ENST00000650978.1:c.3692C>T
XM_011511567.1:c.2263C>T	XP_011509869.1:p.Leu755Phe
XM_017004613.1:c.2416C>T	XP_016860102.1:p.Leu806Phe
XR_002959322.1:n.2683C>T