Canonical Allele Identifier: CA350450092
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728781A>C , CM000664.2:g.214728781A>C GRCh38
NC_000002.11:g.215593505A>C , CM000664.1:g.215593505A>C GRCh37
NC_000002.10:g.215301750A>C NCBI36
NG_012047.2:g.85924T>G
NG_012047.3:g.85931T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2229T>G MANE Select ENSP00000260947.4:p.Cys743Trp
ENST00000421162.2:c.876T>G ENSP00000392245.2:p.Cys292Trp
ENST00000613192.2:c.*292T>G ENSP00000483275.2:n.*292T>G
ENST00000613374.5:c.819T>G ENSP00000484464.1:p.Cys273Trp
ENST00000613706.5:c.1821T>G ENSP00000484976.2:p.Cys607Trp
ENST00000617164.5:c.2172T>G ENSP00000480470.1:p.Cys724Trp
ENST00000619009.5:c.690T>G ENSP00000482293.1:p.Cys230Trp
ENST00000650978.1:c.3604T>G
ENST00000260947.8:c.2229T>G ENSP00000260947.4:p.Cys743Trp
ENST00000432456.5:c.372T>G
ENST00000455743.5:c.*1849T>G ENSP00000412186.1:n.*1849T>G
ENST00000471590.5:n.564T>G
ENST00000613192.1:c.399T>G ENSP00000483275.1:p.Cys133Trp
ENST00000613374.4:c.819T>G ENSP00000484464.1:p.Cys273Trp
ENST00000613706.4:c.876T>G ENSP00000484976.1:p.Cys292Trp
ENST00000617164.4:c.2172T>G ENSP00000480470.1:p.Cys724Trp
ENST00000619009.4:c.690T>G ENSP00000482293.1:p.Cys230Trp
ENST00000620057.4:c.*895T>G ENSP00000481988.1:n.*895T>G
NM_000465.3:c.2229T>G NP_000456.2:p.Cys743Trp
NM_001282543.1:c.2172T>G NP_001269472.1:p.Cys724Trp
NM_001282545.1:c.876T>G NP_001269474.1:p.Cys292Trp
NM_001282548.1:c.819T>G NP_001269477.1:p.Cys273Trp
NM_001282549.1:c.690T>G NP_001269478.1:p.Cys230Trp
NR_104212.1:n.2222T>G
NR_104215.1:n.2165T>G
NR_104216.1:n.1421T>G
XM_011511567.1:c.2175T>G XP_011509869.1:p.Cys725Trp
XM_017004613.1:c.2328T>G XP_016860102.1:p.Cys776Trp
XR_002959322.1:n.2595T>G
NM_000465.4:c.2229T>G MANE Select NP_000456.2:p.Cys743Trp
NM_001282543.2:c.2172T>G NP_001269472.1:p.Cys724Trp
NM_001282545.2:c.876T>G NP_001269474.1:p.Cys292Trp
NM_001282548.2:c.819T>G NP_001269477.1:p.Cys273Trp
NM_001282549.2:c.690T>G NP_001269478.1:p.Cys230Trp
NR_104212.2:n.2194T>G
NR_104215.2:n.2137T>G
NR_104216.2:n.1393T>G