Canonical Allele Identifier: CA431391088
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 509621
dbSNP Id: rs1553622329

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780926T>C , CM000664.2:g.214780926T>C GRCh38
NC_000002.11:g.215645650T>C , CM000664.1:g.215645650T>C GRCh37
NC_000002.10:g.215353895T>C NCBI36
NG_012047.2:g.33779A>G
NG_012047.3:g.33786A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.948A>G MANE Select ENSP00000260947.4:p.Leu316=
ENST00000421162.2:c.215+16135A>G ENSP00000392245.2:n.215+16135A>G
ENST00000613192.2:c.158+28486A>G ENSP00000483275.2:n.158+28486A>G
ENST00000613374.5:c.159-28371A>G ENSP00000484464.1:n.159-28371A>G
ENST00000613706.5:c.906+42A>G ENSP00000484976.2:n.906+42A>G
ENST00000617164.5:c.891A>G ENSP00000480470.1:p.Leu297=
ENST00000619009.5:c.364+11371A>G ENSP00000482293.1:n.364+11371A>G
ENST00000650978.1:c.790A>G
ENST00000260947.8:c.948A>G ENSP00000260947.4:p.Leu316=
ENST00000421162.1:c.215+16135A>G ENSP00000392245.1:n.215+16135A>G
ENST00000455743.5:c.*568A>G ENSP00000412186.1:n.*568A>G
ENST00000471787.1:n.843A>G
ENST00000613192.1:c.73+28486A>G ENSP00000483275.1:n.73+28486A>G
ENST00000613374.4:c.159-28371A>G ENSP00000484464.1:n.159-28371A>G
ENST00000613706.4:c.215+16135A>G ENSP00000484976.1:n.215+16135A>G
ENST00000617164.4:c.891A>G ENSP00000480470.1:p.Leu297=
ENST00000619009.4:c.364+11371A>G ENSP00000482293.1:n.364+11371A>G
ENST00000620057.4:c.364+11371A>G ENSP00000481988.1:n.364+11371A>G
NM_000465.3:c.948A>G NP_000456.2:p.Leu316=
NM_001282543.1:c.891A>G NP_001269472.1:p.Leu297=
NM_001282545.1:c.215+16135A>G NP_001269474.1:n.215+16135A>G
NM_001282548.1:c.159-28371A>G NP_001269477.1:n.159-28371A>G
NM_001282549.1:c.364+11371A>G NP_001269478.1:n.364+11371A>G
NR_104212.1:n.941A>G
NR_104215.1:n.884A>G
NR_104216.1:n.506+11371A>G
XM_011511567.1:c.894A>G XP_011509869.1:p.Leu298=
XM_011511568.1:c.948A>G XP_011509870.1:p.Leu316=
XM_017004613.1:c.1047A>G XP_016860102.1:p.Leu349=
XM_017004614.1:c.1047A>G XP_016860103.1:p.Leu349=
XR_002959322.1:n.1138A>G
NM_000465.4:c.948A>G MANE Select NP_000456.2:p.Leu316=
NM_001282543.2:c.891A>G NP_001269472.1:p.Leu297=
NM_001282545.2:c.215+16135A>G NP_001269474.1:n.215+16135A>G
NM_001282548.2:c.159-28371A>G NP_001269477.1:n.159-28371A>G
NM_001282549.2:c.364+11371A>G NP_001269478.1:n.364+11371A>G
NR_104212.2:n.913A>G
NR_104215.2:n.856A>G
NR_104216.2:n.478+11371A>G