Canonical Allele Identifier: CA169361
Gene: BARD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 142769
dbSNP Id: rs2229571

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780740C>G , CM000664.2:g.214780740C>G GRCh38
NC_000002.11:g.215645464C>G , CM000664.1:g.215645464C>G GRCh37
NC_000002.10:g.215353709C>G NCBI36
NG_012047.2:g.33965G>C

Transcript Alleles

HGVS Amino-acid change
NM_000465.3:c.1134G>C VV NP_000456.2:p.Arg378Ser
NM_001282543.1:c.1077G>C VV NP_001269472.1:p.Arg359Ser
NM_001282545.1:c.215+16321G>C VV NP_001269474.1:p.=
NM_001282548.1:c.159-28185G>C VV NP_001269477.1:p.=
NM_001282549.1:c.364+11557G>C VV NP_001269478.1:p.=
NR_104212.1:n.1127G>C
NR_104215.1:n.1070G>C
NR_104216.1:n.507-11428G>C
XM_011511567.1:c.1080G>C XP_011509869.1:p.Arg360Ser
XM_011511568.1:c.1134G>C XP_011509870.1:p.Arg378Ser
XM_017004613.1:c.1233G>C XP_016860102.1:p.Arg411Ser
XM_017004614.1:c.1233G>C XP_016860103.1:p.Arg411Ser
XR_002959322.1:n.1324G>C
NM_000465.4:c.1134G>C VV MANE Preferred NP_000456.2:p.Arg378Ser
ENST00000260947.8:c.1134G>C ENSP00000260947.4:p.Arg378Ser
ENST00000421162.1:c.215+16321G>C ENSP00000392245.1:p.=
ENST00000455743.5:c.*754G>C ENSP00000412186.1:p.=
ENST00000613192.1:c.73+28672G>C ENSP00000483275.1:p.=
ENST00000613374.4:c.159-28185G>C ENSP00000484464.1:p.=
ENST00000613706.4:c.215+16321G>C ENSP00000484976.1:p.=
ENST00000617164.4:c.1077G>C ENSP00000480470.1:p.Arg359Ser
ENST00000619009.4:c.364+11557G>C ENSP00000482293.1:p.=
ENST00000620057.4:c.365-11428G>C ENSP00000481988.1:p.=