Canonical Allele Identifier: CA350449924
Community Standard Title: NM_000465.4(BARD1):c.2279C>A (p.Ser760Ter)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728731G>T , CM000664.2:g.214728731G>T GRCh38
NC_000002.11:g.215593455G>T , CM000664.1:g.215593455G>T GRCh37
NC_000002.10:g.215301700G>T NCBI36
NG_012047.2:g.85974C>A
NG_012047.3:g.85981C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2279C>A MANE Select NP_000456.2:p.Ser760Ter
ENST00000260947.9:c.2279C>A MANE Select ENSP00000260947.4:p.Ser760Ter
NM_000465.3:c.2279C>A NP_000456.2:p.Ser760Ter
NM_001282543.1:c.2222C>A NP_001269472.1:p.Ser741Ter
NM_001282543.2:c.2222C>A NP_001269472.1:p.Ser741Ter
NM_001282545.1:c.926C>A NP_001269474.1:p.Ser309Ter
NM_001282545.2:c.926C>A NP_001269474.1:p.Ser309Ter
NM_001282548.1:c.869C>A NP_001269477.1:p.Ser290Ter
NM_001282548.2:c.869C>A NP_001269477.1:p.Ser290Ter
NM_001282549.1:c.740C>A NP_001269478.1:p.Ser247Ter
NM_001282549.2:c.740C>A NP_001269478.1:p.Ser247Ter
NR_104212.1:n.2272C>A
NR_104212.2:n.2244C>A
NR_104215.1:n.2215C>A
NR_104215.2:n.2187C>A
NR_104216.1:n.1471C>A
NR_104216.2:n.1443C>A
ENST00000260947.8:c.2279C>A ENSP00000260947.4:p.Ser760Ter
ENST00000421162.2:c.926C>A ENSP00000392245.2:p.Ser309Ter
ENST00000432456.5:c.422C>A
ENST00000455743.5:c.*1899C>A ENSP00000412186.1:n.*1899C>A
ENST00000471590.5:n.614C>A
ENST00000613192.1:c.449C>A ENSP00000483275.1:p.Ser150Ter
ENST00000613192.2:c.*342C>A ENSP00000483275.2:n.*342C>A
ENST00000613374.4:c.869C>A ENSP00000484464.1:p.Ser290Ter
ENST00000613374.5:c.869C>A ENSP00000484464.1:p.Ser290Ter
ENST00000613706.4:c.926C>A ENSP00000484976.1:p.Ser309Ter
ENST00000613706.5:c.1871C>A ENSP00000484976.2:p.Ser624Ter
ENST00000617164.4:c.2222C>A ENSP00000480470.1:p.Ser741Ter
ENST00000617164.5:c.2222C>A ENSP00000480470.1:p.Ser741Ter
ENST00000619009.4:c.740C>A ENSP00000482293.1:p.Ser247Ter
ENST00000619009.5:c.740C>A ENSP00000482293.1:p.Ser247Ter
ENST00000620057.4:c.*945C>A ENSP00000481988.1:n.*945C>A
ENST00000650978.1:c.3654C>A
XM_011511567.1:c.2225C>A XP_011509869.1:p.Ser742Ter
XM_017004613.1:c.2378C>A XP_016860102.1:p.Ser793Ter
XR_002959322.1:n.2645C>A