Canonical Allele Identifier: CA350448807

Gene: BARD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214767643G>T , CM000664.2:g.214767643G>T	GRCh38
NC_000002.11:g.215632367G>T , CM000664.1:g.215632367G>T	GRCh37
NC_000002.10:g.215340612G>T	NCBI36
NG_012047.2:g.47062C>A
NG_012047.3:g.47069C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1407C>A MANE Select	ENSP00000260947.4:p.Cys469Ter
ENST00000421162.2:c.216-15088C>A	ENSP00000392245.2:n.216-15088C>A
ENST00000613192.2:c.159-37135C>A	ENSP00000483275.2:n.159-37135C>A
ENST00000613374.5:c.159-15088C>A	ENSP00000484464.1:n.159-15088C>A
ENST00000613706.5:c.999C>A	ENSP00000484976.2:p.Cys333Ter
ENST00000617164.5:c.1350C>A	ENSP00000480470.1:p.Cys450Ter
ENST00000619009.5:c.364+24654C>A	ENSP00000482293.1:n.364+24654C>A
ENST00000650978.1:c.2782C>A
ENST00000260947.8:c.1407C>A	ENSP00000260947.4:p.Cys469Ter
ENST00000421162.1:c.216-15088C>A	ENSP00000392245.1:n.216-15088C>A
ENST00000455743.5:c.*1027C>A	ENSP00000412186.1:n.*1027C>A
ENST00000613192.1:c.74-37135C>A	ENSP00000483275.1:n.74-37135C>A
ENST00000613374.4:c.159-15088C>A	ENSP00000484464.1:n.159-15088C>A
ENST00000613706.4:c.216-15088C>A	ENSP00000484976.1:n.216-15088C>A
ENST00000617164.4:c.1350C>A	ENSP00000480470.1:p.Cys450Ter
ENST00000619009.4:c.364+24654C>A	ENSP00000482293.1:n.364+24654C>A
ENST00000620057.4:c.*73C>A	ENSP00000481988.1:n.*73C>A
NM_000465.3:c.1407C>A	NP_000456.2:p.Cys469Ter
NM_001282543.1:c.1350C>A	NP_001269472.1:p.Cys450Ter
NM_001282545.1:c.216-15088C>A	NP_001269474.1:n.216-15088C>A
NM_001282548.1:c.159-15088C>A	NP_001269477.1:n.159-15088C>A
NM_001282549.1:c.364+24654C>A	NP_001269478.1:n.364+24654C>A
NR_104212.1:n.1400C>A
NR_104215.1:n.1343C>A
NR_104216.1:n.599C>A
XM_011511567.1:c.1353C>A	XP_011509869.1:p.Cys451Ter
XM_011511568.1:c.1407C>A	XP_011509870.1:p.Cys469Ter
XM_017004613.1:c.1506C>A	XP_016860102.1:p.Cys502Ter
XM_017004614.1:c.1506C>A	XP_016860103.1:p.Cys502Ter
XR_002959322.1:n.1597C>A
NM_000465.4:c.1407C>A MANE Select	NP_000456.2:p.Cys469Ter
NM_001282543.2:c.1350C>A	NP_001269472.1:p.Cys450Ter
NM_001282545.2:c.216-15088C>A	NP_001269474.1:n.216-15088C>A
NM_001282548.2:c.159-15088C>A	NP_001269477.1:n.159-15088C>A
NM_001282549.2:c.364+24654C>A	NP_001269478.1:n.364+24654C>A
NR_104212.2:n.1372C>A
NR_104215.2:n.1315C>A
NR_104216.2:n.571C>A