Canonical Allele Identifier: CA1327071113
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780856T= , CM000664.2:g.214780856T= GRCh38
NC_000002.11:g.215645580T= , CM000664.1:g.215645580T= GRCh37
NC_000002.10:g.215353825T= NCBI36
NG_012047.2:g.33849A=
NG_012047.3:g.33856A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1018A= MANE Select ENSP00000260947.4:p.Ile340=
ENST00000421162.2:c.215+16205A= ENSP00000392245.2:n.215+16205A=
ENST00000613192.2:c.158+28556A= ENSP00000483275.2:n.158+28556A=
ENST00000613374.5:c.159-28301A= ENSP00000484464.1:n.159-28301A=
ENST00000613706.5:c.906+112A= ENSP00000484976.2:n.906+112A=
ENST00000617164.5:c.961A= ENSP00000480470.1:p.Ile321=
ENST00000619009.5:c.364+11441A= ENSP00000482293.1:n.364+11441A=
ENST00000650978.1:c.860A=
ENST00000260947.8:c.1018A= ENSP00000260947.4:p.Ile340=
ENST00000421162.1:c.215+16205A= ENSP00000392245.1:n.215+16205A=
ENST00000455743.5:c.*638A= ENSP00000412186.1:n.*638A=
ENST00000613192.1:c.73+28556A= ENSP00000483275.1:n.73+28556A=
ENST00000613374.4:c.159-28301A= ENSP00000484464.1:n.159-28301A=
ENST00000613706.4:c.215+16205A= ENSP00000484976.1:n.215+16205A=
ENST00000617164.4:c.961A= ENSP00000480470.1:p.Ile321=
ENST00000619009.4:c.364+11441A= ENSP00000482293.1:n.364+11441A=
ENST00000620057.4:c.364+11441A= ENSP00000481988.1:n.364+11441A=
NM_000465.3:c.1018A= NP_000456.2:p.Ile340=
NM_001282543.1:c.961A= NP_001269472.1:p.Ile321=
NM_001282545.1:c.215+16205A= NP_001269474.1:n.215+16205A=
NM_001282548.1:c.159-28301A= NP_001269477.1:n.159-28301A=
NM_001282549.1:c.364+11441A= NP_001269478.1:n.364+11441A=
NR_104212.1:n.1011A=
NR_104215.1:n.954A=
NR_104216.1:n.506+11441A=
XM_011511567.1:c.964A= XP_011509869.1:p.Ile322=
XM_011511568.1:c.1018A= XP_011509870.1:p.Ile340=
XM_017004613.1:c.1117A= XP_016860102.1:p.Ile373=
XM_017004614.1:c.1117A= XP_016860103.1:p.Ile373=
XR_002959322.1:n.1208A=
NM_000465.4:c.1018A= MANE Select NP_000456.2:p.Ile340=
NM_001282543.2:c.961A= NP_001269472.1:p.Ile321=
NM_001282545.2:c.215+16205A= NP_001269474.1:n.215+16205A=
NM_001282548.2:c.159-28301A= NP_001269477.1:n.159-28301A=
NM_001282549.2:c.364+11441A= NP_001269478.1:n.364+11441A=
NR_104212.2:n.983A=
NR_104215.2:n.926A=
NR_104216.2:n.478+11441A=