Canonical Allele Identifier: CA2090176

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745773C>T , CM000664.2:g.214745773C>T	GRCh38
NC_000002.11:g.215610497C>T , CM000664.1:g.215610497C>T	GRCh37
NC_000002.10:g.215318742C>T	NCBI36
NG_012047.2:g.68932G>A
NG_012047.3:g.68939G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1759G>A MANE Select	NP_000456.2:p.Glu587Lys
ENST00000260947.9:c.1759G>A MANE Select	ENSP00000260947.4:p.Glu587Lys
NM_000465.3:c.1759G>A	NP_000456.2:p.Glu587Lys
NM_001282543.1:c.1702G>A	NP_001269472.1:p.Glu568Lys
NM_001282543.2:c.1702G>A	NP_001269472.1:p.Glu568Lys
NM_001282545.1:c.406G>A	NP_001269474.1:p.Glu136Lys
NM_001282545.2:c.406G>A	NP_001269474.1:p.Glu136Lys
NM_001282548.1:c.349G>A	NP_001269477.1:p.Glu117Lys
NM_001282548.2:c.349G>A	NP_001269477.1:p.Glu117Lys
NM_001282549.1:c.365-15265G>A	NP_001269478.1:n.365-15265G>A
NM_001282549.2:c.365-15265G>A	NP_001269478.1:n.365-15265G>A
NR_104212.1:n.1752G>A
NR_104212.2:n.1724G>A
NR_104215.1:n.1695G>A
NR_104215.2:n.1667G>A
NR_104216.1:n.951G>A
NR_104216.2:n.923G>A
ENST00000260947.8:c.1759G>A	ENSP00000260947.4:p.Glu587Lys
ENST00000421162.1:c.406G>A	ENSP00000392245.1:p.Glu136Lys
ENST00000421162.2:c.406G>A	ENSP00000392245.2:p.Glu136Lys
ENST00000455743.5:c.*1379G>A	ENSP00000412186.1:n.*1379G>A
ENST00000465841.1:n.114G>A
ENST00000613192.1:c.74-15265G>A	ENSP00000483275.1:n.74-15265G>A
ENST00000613192.2:c.159-15265G>A	ENSP00000483275.2:n.159-15265G>A
ENST00000613374.4:c.349G>A	ENSP00000484464.1:p.Glu117Lys
ENST00000613374.5:c.349G>A	ENSP00000484464.1:p.Glu117Lys
ENST00000613706.4:c.406G>A	ENSP00000484976.1:p.Glu136Lys
ENST00000613706.5:c.1351G>A	ENSP00000484976.2:p.Glu451Lys
ENST00000617164.4:c.1702G>A	ENSP00000480470.1:p.Glu568Lys
ENST00000617164.5:c.1702G>A	ENSP00000480470.1:p.Glu568Lys
ENST00000619009.4:c.365-15265G>A	ENSP00000482293.1:n.365-15265G>A
ENST00000619009.5:c.365-15265G>A	ENSP00000482293.1:n.365-15265G>A
ENST00000620057.4:c.*425G>A	ENSP00000481988.1:n.*425G>A
ENST00000650978.1:c.3134G>A
XM_011511567.1:c.1705G>A	XP_011509869.1:p.Glu569Lys
XM_011511568.1:c.1759G>A	XP_011509870.1:p.Glu587Lys
XM_017004613.1:c.1858G>A	XP_016860102.1:p.Glu620Lys
XM_017004614.1:c.1858G>A	XP_016860103.1:p.Glu620Lys
XR_002959322.1:n.1949G>A