Canonical Allele Identifier: CA350455213
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 928092
ClinVar RCV Id: RCV001191746
dbSNP Id: rs1694987058

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781017A>G , CM000664.2:g.214781017A>G GRCh38
NC_000002.11:g.215645741A>G , CM000664.1:g.215645741A>G GRCh37
NC_000002.10:g.215353986A>G NCBI36
NG_012047.2:g.33688T>C
NG_012047.3:g.33695T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.857T>C MANE Select ENSP00000260947.4:p.Ile286Thr
ENST00000421162.2:c.215+16044T>C ENSP00000392245.2:n.215+16044T>C
ENST00000613192.2:c.158+28395T>C ENSP00000483275.2:n.158+28395T>C
ENST00000613374.5:c.158+28395T>C ENSP00000484464.1:n.158+28395T>C
ENST00000613706.5:c.857T>C ENSP00000484976.2:p.Ile286Thr
ENST00000617164.5:c.800T>C ENSP00000480470.1:p.Ile267Thr
ENST00000619009.5:c.364+11280T>C ENSP00000482293.1:n.364+11280T>C
ENST00000650978.1:c.699T>C
ENST00000260947.8:c.857T>C ENSP00000260947.4:p.Ile286Thr
ENST00000421162.1:c.215+16044T>C ENSP00000392245.1:n.215+16044T>C
ENST00000455743.5:c.*477T>C ENSP00000412186.1:n.*477T>C
ENST00000471787.1:n.752T>C
ENST00000613192.1:c.73+28395T>C ENSP00000483275.1:n.73+28395T>C
ENST00000613374.4:c.158+28395T>C ENSP00000484464.1:n.158+28395T>C
ENST00000613706.4:c.215+16044T>C ENSP00000484976.1:n.215+16044T>C
ENST00000617164.4:c.800T>C ENSP00000480470.1:p.Ile267Thr
ENST00000619009.4:c.364+11280T>C ENSP00000482293.1:n.364+11280T>C
ENST00000620057.4:c.364+11280T>C ENSP00000481988.1:n.364+11280T>C
NM_000465.3:c.857T>C NP_000456.2:p.Ile286Thr
NM_001282543.1:c.800T>C NP_001269472.1:p.Ile267Thr
NM_001282545.1:c.215+16044T>C NP_001269474.1:n.215+16044T>C
NM_001282548.1:c.158+28395T>C NP_001269477.1:n.158+28395T>C
NM_001282549.1:c.364+11280T>C NP_001269478.1:n.364+11280T>C
NR_104212.1:n.850T>C
NR_104215.1:n.793T>C
NR_104216.1:n.506+11280T>C
XM_011511567.1:c.803T>C XP_011509869.1:p.Ile268Thr
XM_011511568.1:c.857T>C XP_011509870.1:p.Ile286Thr
XM_017004613.1:c.956T>C XP_016860102.1:p.Ile319Thr
XM_017004614.1:c.956T>C XP_016860103.1:p.Ile319Thr
XR_002959322.1:n.1047T>C
NM_000465.4:c.857T>C MANE Select NP_000456.2:p.Ile286Thr
NM_001282543.2:c.800T>C NP_001269472.1:p.Ile267Thr
NM_001282545.2:c.215+16044T>C NP_001269474.1:n.215+16044T>C
NM_001282548.2:c.158+28395T>C NP_001269477.1:n.158+28395T>C
NM_001282549.2:c.364+11280T>C NP_001269478.1:n.364+11280T>C
NR_104212.2:n.822T>C
NR_104215.2:n.765T>C
NR_104216.2:n.478+11280T>C