Canonical Allele Identifier: CA198126

Gene: BARD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752538C>T , CM000664.2:g.214752538C>T	GRCh38
NC_000002.11:g.215617262C>T , CM000664.1:g.215617262C>T	GRCh37
NC_000002.10:g.215325507C>T	NCBI36
NG_012047.2:g.62167G>A
NG_012047.3:g.62174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1586G>A MANE Select	ENSP00000260947.4:p.Arg529Gln
ENST00000421162.2:c.233G>A	ENSP00000392245.2:p.Arg78Gln
ENST00000613192.2:c.159-22030G>A	ENSP00000483275.2:n.159-22030G>A
ENST00000613374.5:c.176G>A	ENSP00000484464.1:p.Arg59Gln
ENST00000613706.5:c.1178G>A	ENSP00000484976.2:p.Arg393Gln
ENST00000617164.5:c.1529G>A	ENSP00000480470.1:p.Arg510Gln
ENST00000619009.5:c.365-22030G>A	ENSP00000482293.1:n.365-22030G>A
ENST00000650978.1:c.2961G>A
ENST00000260947.8:c.1586G>A	ENSP00000260947.4:p.Arg529Gln
ENST00000421162.1:c.233G>A	ENSP00000392245.1:p.Arg78Gln
ENST00000455743.5:c.*1206G>A	ENSP00000412186.1:n.*1206G>A
ENST00000613192.1:c.74-22030G>A	ENSP00000483275.1:n.74-22030G>A
ENST00000613374.4:c.176G>A	ENSP00000484464.1:p.Arg59Gln
ENST00000613706.4:c.233G>A	ENSP00000484976.1:p.Arg78Gln
ENST00000617164.4:c.1529G>A	ENSP00000480470.1:p.Arg510Gln
ENST00000619009.4:c.365-22030G>A	ENSP00000482293.1:n.365-22030G>A
ENST00000620057.4:c.*252G>A	ENSP00000481988.1:n.*252G>A
NM_000465.3:c.1586G>A	NP_000456.2:p.Arg529Gln
NM_001282543.1:c.1529G>A	NP_001269472.1:p.Arg510Gln
NM_001282545.1:c.233G>A	NP_001269474.1:p.Arg78Gln
NM_001282548.1:c.176G>A	NP_001269477.1:p.Arg59Gln
NM_001282549.1:c.365-22030G>A	NP_001269478.1:n.365-22030G>A
NR_104212.1:n.1579G>A
NR_104215.1:n.1522G>A
NR_104216.1:n.778G>A
XM_011511567.1:c.1532G>A	XP_011509869.1:p.Arg511Gln
XM_011511568.1:c.1586G>A	XP_011509870.1:p.Arg529Gln
XM_017004613.1:c.1685G>A	XP_016860102.1:p.Arg562Gln
XM_017004614.1:c.1685G>A	XP_016860103.1:p.Arg562Gln
XR_002959322.1:n.1776G>A
NM_000465.4:c.1586G>A MANE Select	NP_000456.2:p.Arg529Gln
NM_001282543.2:c.1529G>A	NP_001269472.1:p.Arg510Gln
NM_001282545.2:c.233G>A	NP_001269474.1:p.Arg78Gln
NM_001282548.2:c.176G>A	NP_001269477.1:p.Arg59Gln
NM_001282549.2:c.365-22030G>A	NP_001269478.1:n.365-22030G>A
NR_104212.2:n.1551G>A
NR_104215.2:n.1494G>A
NR_104216.2:n.750G>A