Canonical Allele Identifier: CA350449954
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728741T>A , CM000664.2:g.214728741T>A GRCh38
NC_000002.11:g.215593465T>A , CM000664.1:g.215593465T>A GRCh37
NC_000002.10:g.215301710T>A NCBI36
NG_012047.2:g.85964A>T
NG_012047.3:g.85971A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2269A>T MANE Select ENSP00000260947.4:p.Lys757Ter
ENST00000421162.2:c.916A>T ENSP00000392245.2:p.Lys306Ter
ENST00000613192.2:c.*332A>T ENSP00000483275.2:n.*332A>T
ENST00000613374.5:c.859A>T ENSP00000484464.1:p.Lys287Ter
ENST00000613706.5:c.1861A>T ENSP00000484976.2:p.Lys621Ter
ENST00000617164.5:c.2212A>T ENSP00000480470.1:p.Lys738Ter
ENST00000619009.5:c.730A>T ENSP00000482293.1:p.Lys244Ter
ENST00000650978.1:c.3644A>T
ENST00000260947.8:c.2269A>T ENSP00000260947.4:p.Lys757Ter
ENST00000432456.5:c.412A>T
ENST00000455743.5:c.*1889A>T ENSP00000412186.1:n.*1889A>T
ENST00000471590.5:n.604A>T
ENST00000613192.1:c.439A>T ENSP00000483275.1:p.Lys147Ter
ENST00000613374.4:c.859A>T ENSP00000484464.1:p.Lys287Ter
ENST00000613706.4:c.916A>T ENSP00000484976.1:p.Lys306Ter
ENST00000617164.4:c.2212A>T ENSP00000480470.1:p.Lys738Ter
ENST00000619009.4:c.730A>T ENSP00000482293.1:p.Lys244Ter
ENST00000620057.4:c.*935A>T ENSP00000481988.1:n.*935A>T
NM_000465.3:c.2269A>T NP_000456.2:p.Lys757Ter
NM_001282543.1:c.2212A>T NP_001269472.1:p.Lys738Ter
NM_001282545.1:c.916A>T NP_001269474.1:p.Lys306Ter
NM_001282548.1:c.859A>T NP_001269477.1:p.Lys287Ter
NM_001282549.1:c.730A>T NP_001269478.1:p.Lys244Ter
NR_104212.1:n.2262A>T
NR_104215.1:n.2205A>T
NR_104216.1:n.1461A>T
XM_011511567.1:c.2215A>T XP_011509869.1:p.Lys739Ter
XM_017004613.1:c.2368A>T XP_016860102.1:p.Lys790Ter
XR_002959322.1:n.2635A>T
NM_000465.4:c.2269A>T MANE Select NP_000456.2:p.Lys757Ter
NM_001282543.2:c.2212A>T NP_001269472.1:p.Lys738Ter
NM_001282545.2:c.916A>T NP_001269474.1:p.Lys306Ter
NM_001282548.2:c.859A>T NP_001269477.1:p.Lys287Ter
NM_001282549.2:c.730A>T NP_001269478.1:p.Lys244Ter
NR_104212.2:n.2234A>T
NR_104215.2:n.2177A>T
NR_104216.2:n.1433A>T