Canonical Allele Identifier: CA350453017

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745791G>A , CM000664.2:g.214745791G>A	GRCh38
NC_000002.11:g.215610515G>A , CM000664.1:g.215610515G>A	GRCh37
NC_000002.10:g.215318760G>A	NCBI36
NG_012047.2:g.68914C>T
NG_012047.3:g.68921C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1741C>T MANE Select	NP_000456.2:p.Gln581Ter
ENST00000260947.9:c.1741C>T MANE Select	ENSP00000260947.4:p.Gln581Ter
NM_000465.3:c.1741C>T	NP_000456.2:p.Gln581Ter
NM_001282543.1:c.1684C>T	NP_001269472.1:p.Gln562Ter
NM_001282543.2:c.1684C>T	NP_001269472.1:p.Gln562Ter
NM_001282545.1:c.388C>T	NP_001269474.1:p.Gln130Ter
NM_001282545.2:c.388C>T	NP_001269474.1:p.Gln130Ter
NM_001282548.1:c.331C>T	NP_001269477.1:p.Gln111Ter
NM_001282548.2:c.331C>T	NP_001269477.1:p.Gln111Ter
NM_001282549.1:c.365-15283C>T	NP_001269478.1:n.365-15283C>T
NM_001282549.2:c.365-15283C>T	NP_001269478.1:n.365-15283C>T
NR_104212.1:n.1734C>T
NR_104212.2:n.1706C>T
NR_104215.1:n.1677C>T
NR_104215.2:n.1649C>T
NR_104216.1:n.933C>T
NR_104216.2:n.905C>T
ENST00000260947.8:c.1741C>T	ENSP00000260947.4:p.Gln581Ter
ENST00000421162.1:c.388C>T	ENSP00000392245.1:p.Gln130Ter
ENST00000421162.2:c.388C>T	ENSP00000392245.2:p.Gln130Ter
ENST00000455743.5:c.*1361C>T	ENSP00000412186.1:n.*1361C>T
ENST00000465841.1:n.96C>T
ENST00000613192.1:c.74-15283C>T	ENSP00000483275.1:n.74-15283C>T
ENST00000613192.2:c.159-15283C>T	ENSP00000483275.2:n.159-15283C>T
ENST00000613374.4:c.331C>T	ENSP00000484464.1:p.Gln111Ter
ENST00000613374.5:c.331C>T	ENSP00000484464.1:p.Gln111Ter
ENST00000613706.4:c.388C>T	ENSP00000484976.1:p.Gln130Ter
ENST00000613706.5:c.1333C>T	ENSP00000484976.2:p.Gln445Ter
ENST00000617164.4:c.1684C>T	ENSP00000480470.1:p.Gln562Ter
ENST00000617164.5:c.1684C>T	ENSP00000480470.1:p.Gln562Ter
ENST00000619009.4:c.365-15283C>T	ENSP00000482293.1:n.365-15283C>T
ENST00000619009.5:c.365-15283C>T	ENSP00000482293.1:n.365-15283C>T
ENST00000620057.4:c.*407C>T	ENSP00000481988.1:n.*407C>T
ENST00000650978.1:c.3116C>T
XM_011511567.1:c.1687C>T	XP_011509869.1:p.Gln563Ter
XM_011511568.1:c.1741C>T	XP_011509870.1:p.Gln581Ter
XM_017004613.1:c.1840C>T	XP_016860102.1:p.Gln614Ter
XM_017004614.1:c.1840C>T	XP_016860103.1:p.Gln614Ter
XR_002959322.1:n.1931C>T