Canonical Allele Identifier: CA350461257

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792422C>A , CM000664.2:g.214792422C>A	GRCh38
NC_000002.11:g.215657146C>A , CM000664.1:g.215657146C>A	GRCh37
NC_000002.10:g.215365391C>A	NCBI36
NG_012047.2:g.22283G>T
NG_012047.3:g.22290G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.239G>T MANE Select	NP_000456.2:p.Gly80Val
ENST00000260947.9:c.239G>T MANE Select	ENSP00000260947.4:p.Gly80Val
NM_000465.3:c.239G>T	NP_000456.2:p.Gly80Val
NM_001282543.1:c.182G>T	NP_001269472.1:p.Gly61Val
NM_001282543.2:c.182G>T	NP_001269472.1:p.Gly61Val
NM_001282545.1:c.215+4639G>T	NP_001269474.1:n.215+4639G>T
NM_001282545.2:c.215+4639G>T	NP_001269474.1:n.215+4639G>T
NM_001282548.1:c.158+16990G>T	NP_001269477.1:n.158+16990G>T
NM_001282548.2:c.158+16990G>T	NP_001269477.1:n.158+16990G>T
NM_001282549.1:c.239G>T	NP_001269478.1:p.Gly80Val
NM_001282549.2:c.239G>T	NP_001269478.1:p.Gly80Val
NR_104212.1:n.357+4639G>T
NR_104212.2:n.329+4639G>T
NR_104215.1:n.301-10913G>T
NR_104215.2:n.273-10913G>T
NR_104216.1:n.381G>T
NR_104216.2:n.353G>T
ENST00000260947.8:c.239G>T	ENSP00000260947.4:p.Gly80Val
ENST00000421162.1:c.215+4639G>T	ENSP00000392245.1:n.215+4639G>T
ENST00000421162.2:c.215+4639G>T	ENSP00000392245.2:n.215+4639G>T
ENST00000455743.5:c.215+4639G>T	ENSP00000412186.1:n.215+4639G>T
ENST00000471787.1:n.260-10913G>T
ENST00000613192.1:c.73+16990G>T	ENSP00000483275.1:n.73+16990G>T
ENST00000613192.2:c.158+16990G>T	ENSP00000483275.2:n.158+16990G>T
ENST00000613374.4:c.158+16990G>T	ENSP00000484464.1:n.158+16990G>T
ENST00000613374.5:c.158+16990G>T	ENSP00000484464.1:n.158+16990G>T
ENST00000613706.4:c.215+4639G>T	ENSP00000484976.1:n.215+4639G>T
ENST00000613706.5:c.239G>T	ENSP00000484976.2:p.Gly80Val
ENST00000617164.4:c.182G>T	ENSP00000480470.1:p.Gly61Val
ENST00000617164.5:c.182G>T	ENSP00000480470.1:p.Gly61Val
ENST00000619009.4:c.239G>T	ENSP00000482293.1:p.Gly80Val
ENST00000619009.5:c.239G>T	ENSP00000482293.1:p.Gly80Val
ENST00000620057.4:c.239G>T	ENSP00000481988.1:p.Gly80Val
ENST00000650978.1:c.81G>T
XM_011511567.1:c.185G>T	XP_011509869.1:p.Gly62Val
XM_011511568.1:c.239G>T	XP_011509870.1:p.Gly80Val
XM_017004613.1:c.338G>T	XP_016860102.1:p.Gly113Val
XM_017004614.1:c.338G>T	XP_016860103.1:p.Gly113Val
XR_002959322.1:n.429G>T