Canonical Allele Identifier: CA350450363
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728833G>C , CM000664.2:g.214728833G>C GRCh38
NC_000002.11:g.215593557G>C , CM000664.1:g.215593557G>C GRCh37
NC_000002.10:g.215301802G>C NCBI36
NG_012047.2:g.85872C>G
NG_012047.3:g.85879C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2177C>G MANE Select ENSP00000260947.4:p.Pro726Arg
ENST00000421162.2:c.824C>G ENSP00000392245.2:p.Pro275Arg
ENST00000613192.2:c.*240C>G ENSP00000483275.2:n.*240C>G
ENST00000613374.5:c.767C>G ENSP00000484464.1:p.Pro256Arg
ENST00000613706.5:c.1769C>G ENSP00000484976.2:p.Pro590Arg
ENST00000617164.5:c.2120C>G ENSP00000480470.1:p.Pro707Arg
ENST00000619009.5:c.638C>G ENSP00000482293.1:p.Pro213Arg
ENST00000650978.1:c.3552C>G
ENST00000260947.8:c.2177C>G ENSP00000260947.4:p.Pro726Arg
ENST00000432456.5:c.320C>G
ENST00000455743.5:c.*1797C>G ENSP00000412186.1:n.*1797C>G
ENST00000471590.5:n.512C>G
ENST00000613192.1:c.347C>G ENSP00000483275.1:p.Pro116Arg
ENST00000613374.4:c.767C>G ENSP00000484464.1:p.Pro256Arg
ENST00000613706.4:c.824C>G ENSP00000484976.1:p.Pro275Arg
ENST00000617164.4:c.2120C>G ENSP00000480470.1:p.Pro707Arg
ENST00000619009.4:c.638C>G ENSP00000482293.1:p.Pro213Arg
ENST00000620057.4:c.*843C>G ENSP00000481988.1:n.*843C>G
NM_000465.3:c.2177C>G NP_000456.2:p.Pro726Arg
NM_001282543.1:c.2120C>G NP_001269472.1:p.Pro707Arg
NM_001282545.1:c.824C>G NP_001269474.1:p.Pro275Arg
NM_001282548.1:c.767C>G NP_001269477.1:p.Pro256Arg
NM_001282549.1:c.638C>G NP_001269478.1:p.Pro213Arg
NR_104212.1:n.2170C>G
NR_104215.1:n.2113C>G
NR_104216.1:n.1369C>G
XM_011511567.1:c.2123C>G XP_011509869.1:p.Pro708Arg
XM_017004613.1:c.2276C>G XP_016860102.1:p.Pro759Arg
XR_002959322.1:n.2543C>G
NM_000465.4:c.2177C>G MANE Select NP_000456.2:p.Pro726Arg
NM_001282543.2:c.2120C>G NP_001269472.1:p.Pro707Arg
NM_001282545.2:c.824C>G NP_001269474.1:p.Pro275Arg
NM_001282548.2:c.767C>G NP_001269477.1:p.Pro256Arg
NM_001282549.2:c.638C>G NP_001269478.1:p.Pro213Arg
NR_104212.2:n.2142C>G
NR_104215.2:n.2085C>G
NR_104216.2:n.1341C>G