Canonical Allele Identifier: CA350461247

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792419G>A , CM000664.2:g.214792419G>A	GRCh38
NC_000002.11:g.215657143G>A , CM000664.1:g.215657143G>A	GRCh37
NC_000002.10:g.215365388G>A	NCBI36
NG_012047.2:g.22286C>T
NG_012047.3:g.22293C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.242C>T MANE Select	NP_000456.2:p.Thr81Ile
ENST00000260947.9:c.242C>T MANE Select	ENSP00000260947.4:p.Thr81Ile
NM_000465.3:c.242C>T	NP_000456.2:p.Thr81Ile
NM_001282543.1:c.185C>T	NP_001269472.1:p.Thr62Ile
NM_001282543.2:c.185C>T	NP_001269472.1:p.Thr62Ile
NM_001282545.1:c.215+4642C>T	NP_001269474.1:n.215+4642C>T
NM_001282545.2:c.215+4642C>T	NP_001269474.1:n.215+4642C>T
NM_001282548.1:c.158+16993C>T	NP_001269477.1:n.158+16993C>T
NM_001282548.2:c.158+16993C>T	NP_001269477.1:n.158+16993C>T
NM_001282549.1:c.242C>T	NP_001269478.1:p.Thr81Ile
NM_001282549.2:c.242C>T	NP_001269478.1:p.Thr81Ile
NR_104212.1:n.357+4642C>T
NR_104212.2:n.329+4642C>T
NR_104215.1:n.301-10910C>T
NR_104215.2:n.273-10910C>T
NR_104216.1:n.384C>T
NR_104216.2:n.356C>T
ENST00000260947.8:c.242C>T	ENSP00000260947.4:p.Thr81Ile
ENST00000421162.1:c.215+4642C>T	ENSP00000392245.1:n.215+4642C>T
ENST00000421162.2:c.215+4642C>T	ENSP00000392245.2:n.215+4642C>T
ENST00000455743.5:c.215+4642C>T	ENSP00000412186.1:n.215+4642C>T
ENST00000471787.1:n.260-10910C>T
ENST00000613192.1:c.73+16993C>T	ENSP00000483275.1:n.73+16993C>T
ENST00000613192.2:c.158+16993C>T	ENSP00000483275.2:n.158+16993C>T
ENST00000613374.4:c.158+16993C>T	ENSP00000484464.1:n.158+16993C>T
ENST00000613374.5:c.158+16993C>T	ENSP00000484464.1:n.158+16993C>T
ENST00000613706.4:c.215+4642C>T	ENSP00000484976.1:n.215+4642C>T
ENST00000613706.5:c.242C>T	ENSP00000484976.2:p.Thr81Ile
ENST00000617164.4:c.185C>T	ENSP00000480470.1:p.Thr62Ile
ENST00000617164.5:c.185C>T	ENSP00000480470.1:p.Thr62Ile
ENST00000619009.4:c.242C>T	ENSP00000482293.1:p.Thr81Ile
ENST00000619009.5:c.242C>T	ENSP00000482293.1:p.Thr81Ile
ENST00000620057.4:c.242C>T	ENSP00000481988.1:p.Thr81Ile
ENST00000650978.1:c.84C>T
XM_011511567.1:c.188C>T	XP_011509869.1:p.Thr63Ile
XM_011511568.1:c.242C>T	XP_011509870.1:p.Thr81Ile
XM_017004613.1:c.341C>T	XP_016860102.1:p.Thr114Ile
XM_017004614.1:c.341C>T	XP_016860103.1:p.Thr114Ile
XR_002959322.1:n.432C>T