Canonical Allele Identifier: CA350452480

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745722C>T , CM000664.2:g.214745722C>T	GRCh38
NC_000002.11:g.215610446C>T , CM000664.1:g.215610446C>T	GRCh37
NC_000002.10:g.215318691C>T	NCBI36
NG_012047.2:g.68983G>A
NG_012047.3:g.68990G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1810G>A MANE Select	NP_000456.2:p.Val604Ile
ENST00000260947.9:c.1810G>A MANE Select	ENSP00000260947.4:p.Val604Ile
NM_000465.3:c.1810G>A	NP_000456.2:p.Val604Ile
NM_001282543.1:c.1753G>A	NP_001269472.1:p.Val585Ile
NM_001282543.2:c.1753G>A	NP_001269472.1:p.Val585Ile
NM_001282545.1:c.457G>A	NP_001269474.1:p.Val153Ile
NM_001282545.2:c.457G>A	NP_001269474.1:p.Val153Ile
NM_001282548.1:c.400G>A	NP_001269477.1:p.Val134Ile
NM_001282548.2:c.400G>A	NP_001269477.1:p.Val134Ile
NM_001282549.1:c.365-15214G>A	NP_001269478.1:n.365-15214G>A
NM_001282549.2:c.365-15214G>A	NP_001269478.1:n.365-15214G>A
NR_104212.1:n.1803G>A
NR_104212.2:n.1775G>A
NR_104215.1:n.1746G>A
NR_104215.2:n.1718G>A
NR_104216.1:n.1002G>A
NR_104216.2:n.974G>A
ENST00000260947.8:c.1810G>A	ENSP00000260947.4:p.Val604Ile
ENST00000421162.1:c.457G>A	ENSP00000392245.1:p.Val153Ile
ENST00000421162.2:c.457G>A	ENSP00000392245.2:p.Val153Ile
ENST00000455743.5:c.*1430G>A	ENSP00000412186.1:n.*1430G>A
ENST00000465841.1:n.165G>A
ENST00000613192.1:c.74-15214G>A	ENSP00000483275.1:n.74-15214G>A
ENST00000613192.2:c.159-15214G>A	ENSP00000483275.2:n.159-15214G>A
ENST00000613374.4:c.400G>A	ENSP00000484464.1:p.Val134Ile
ENST00000613374.5:c.400G>A	ENSP00000484464.1:p.Val134Ile
ENST00000613706.4:c.457G>A	ENSP00000484976.1:p.Val153Ile
ENST00000613706.5:c.1402G>A	ENSP00000484976.2:p.Val468Ile
ENST00000617164.4:c.1753G>A	ENSP00000480470.1:p.Val585Ile
ENST00000617164.5:c.1753G>A	ENSP00000480470.1:p.Val585Ile
ENST00000619009.4:c.365-15214G>A	ENSP00000482293.1:n.365-15214G>A
ENST00000619009.5:c.365-15214G>A	ENSP00000482293.1:n.365-15214G>A
ENST00000620057.4:c.*476G>A	ENSP00000481988.1:n.*476G>A
ENST00000650978.1:c.3185G>A
XM_011511567.1:c.1756G>A	XP_011509869.1:p.Val586Ile
XM_011511568.1:c.1810G>A	XP_011509870.1:p.Val604Ile
XM_017004613.1:c.1909G>A	XP_016860102.1:p.Val637Ile
XM_017004614.1:c.1909G>A	XP_016860103.1:p.Val637Ile
XR_002959322.1:n.2000G>A