Canonical Allele Identifier: CA1327071440
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781315G= , CM000664.2:g.214781315G= GRCh38
NC_000002.11:g.215646039G= , CM000664.1:g.215646039G= GRCh37
NC_000002.10:g.215354284G= NCBI36
NG_012047.2:g.33390C=
NG_012047.3:g.33397C=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.559C= MANE Select ENSP00000260947.4:p.Pro187=
ENST00000421162.2:c.215+15746C= ENSP00000392245.2:n.215+15746C=
ENST00000613192.2:c.158+28097C= ENSP00000483275.2:n.158+28097C=
ENST00000613374.5:c.158+28097C= ENSP00000484464.1:n.158+28097C=
ENST00000613706.5:c.559C= ENSP00000484976.2:p.Pro187=
ENST00000617164.5:c.502C= ENSP00000480470.1:p.Pro168=
ENST00000619009.5:c.364+10982C= ENSP00000482293.1:n.364+10982C=
ENST00000650978.1:c.401C=
ENST00000260947.8:c.559C= ENSP00000260947.4:p.Pro187=
ENST00000421162.1:c.215+15746C= ENSP00000392245.1:n.215+15746C=
ENST00000455743.5:c.*179C= ENSP00000412186.1:n.*179C=
ENST00000471787.1:n.454C=
ENST00000613192.1:c.73+28097C= ENSP00000483275.1:n.73+28097C=
ENST00000613374.4:c.158+28097C= ENSP00000484464.1:n.158+28097C=
ENST00000613706.4:c.215+15746C= ENSP00000484976.1:n.215+15746C=
ENST00000617164.4:c.502C= ENSP00000480470.1:p.Pro168=
ENST00000619009.4:c.364+10982C= ENSP00000482293.1:n.364+10982C=
ENST00000620057.4:c.364+10982C= ENSP00000481988.1:n.364+10982C=
NM_000465.3:c.559C= NP_000456.2:p.Pro187=
NM_001282543.1:c.502C= NP_001269472.1:p.Pro168=
NM_001282545.1:c.215+15746C= NP_001269474.1:n.215+15746C=
NM_001282548.1:c.158+28097C= NP_001269477.1:n.158+28097C=
NM_001282549.1:c.364+10982C= NP_001269478.1:n.364+10982C=
NR_104212.1:n.552C=
NR_104215.1:n.495C=
NR_104216.1:n.506+10982C=
XM_011511567.1:c.505C= XP_011509869.1:p.Pro169=
XM_011511568.1:c.559C= XP_011509870.1:p.Pro187=
XM_017004613.1:c.658C= XP_016860102.1:p.Pro220=
XM_017004614.1:c.658C= XP_016860103.1:p.Pro220=
XR_002959322.1:n.749C=
NM_000465.4:c.559C= MANE Select NP_000456.2:p.Pro187=
NM_001282543.2:c.502C= NP_001269472.1:p.Pro168=
NM_001282545.2:c.215+15746C= NP_001269474.1:n.215+15746C=
NM_001282548.2:c.158+28097C= NP_001269477.1:n.158+28097C=
NM_001282549.2:c.364+10982C= NP_001269478.1:n.364+10982C=
NR_104212.2:n.524C=
NR_104215.2:n.467C=
NR_104216.2:n.478+10982C=