Canonical Allele Identifier: CA431129563

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214767589C>A , CM000664.2:g.214767589C>A	GRCh38
NC_000002.11:g.215632313C>A , CM000664.1:g.215632313C>A	GRCh37
NC_000002.10:g.215340558C>A	NCBI36
NG_012047.2:g.47116G>T
NG_012047.3:g.47123G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1461G>T MANE Select	NP_000456.2:p.Val487=
ENST00000260947.9:c.1461G>T MANE Select	ENSP00000260947.4:p.Val487=
NM_000465.3:c.1461G>T	NP_000456.2:p.Val487=
NM_001282543.1:c.1404G>T	NP_001269472.1:p.Val468=
NM_001282543.2:c.1404G>T	NP_001269472.1:p.Val468=
NM_001282545.1:c.216-15034G>T	NP_001269474.1:n.216-15034G>T
NM_001282545.2:c.216-15034G>T	NP_001269474.1:n.216-15034G>T
NM_001282548.1:c.159-15034G>T	NP_001269477.1:n.159-15034G>T
NM_001282548.2:c.159-15034G>T	NP_001269477.1:n.159-15034G>T
NM_001282549.1:c.364+24708G>T	NP_001269478.1:n.364+24708G>T
NM_001282549.2:c.364+24708G>T	NP_001269478.1:n.364+24708G>T
NR_104212.1:n.1454G>T
NR_104212.2:n.1426G>T
NR_104215.1:n.1397G>T
NR_104215.2:n.1369G>T
NR_104216.1:n.653G>T
NR_104216.2:n.625G>T
ENST00000260947.8:c.1461G>T	ENSP00000260947.4:p.Val487=
ENST00000421162.1:c.216-15034G>T	ENSP00000392245.1:n.216-15034G>T
ENST00000421162.2:c.216-15034G>T	ENSP00000392245.2:n.216-15034G>T
ENST00000455743.5:c.*1081G>T	ENSP00000412186.1:n.*1081G>T
ENST00000613192.1:c.74-37081G>T	ENSP00000483275.1:n.74-37081G>T
ENST00000613192.2:c.159-37081G>T	ENSP00000483275.2:n.159-37081G>T
ENST00000613374.4:c.159-15034G>T	ENSP00000484464.1:n.159-15034G>T
ENST00000613374.5:c.159-15034G>T	ENSP00000484464.1:n.159-15034G>T
ENST00000613706.4:c.216-15034G>T	ENSP00000484976.1:n.216-15034G>T
ENST00000613706.5:c.1053G>T	ENSP00000484976.2:p.Val351=
ENST00000617164.4:c.1404G>T	ENSP00000480470.1:p.Val468=
ENST00000617164.5:c.1404G>T	ENSP00000480470.1:p.Val468=
ENST00000619009.4:c.364+24708G>T	ENSP00000482293.1:n.364+24708G>T
ENST00000619009.5:c.364+24708G>T	ENSP00000482293.1:n.364+24708G>T
ENST00000620057.4:c.*127G>T	ENSP00000481988.1:n.*127G>T
ENST00000650978.1:c.2836G>T
XM_011511567.1:c.1407G>T	XP_011509869.1:p.Val469=
XM_011511568.1:c.1461G>T	XP_011509870.1:p.Val487=
XM_017004613.1:c.1560G>T	XP_016860102.1:p.Val520=
XM_017004614.1:c.1560G>T	XP_016860103.1:p.Val520=
XR_002959322.1:n.1651G>T