Canonical Allele Identifier: CA350449868
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728720T>A , CM000664.2:g.214728720T>A GRCh38
NC_000002.11:g.215593444T>A , CM000664.1:g.215593444T>A GRCh37
NC_000002.10:g.215301689T>A NCBI36
NG_012047.2:g.85985A>T
NG_012047.3:g.85992A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2290A>T MANE Select ENSP00000260947.4:p.Ile764Leu
ENST00000421162.2:c.937A>T ENSP00000392245.2:p.Ile313Leu
ENST00000613192.2:c.*353A>T ENSP00000483275.2:n.*353A>T
ENST00000613374.5:c.880A>T ENSP00000484464.1:p.Ile294Leu
ENST00000613706.5:c.1882A>T ENSP00000484976.2:p.Ile628Leu
ENST00000617164.5:c.2233A>T ENSP00000480470.1:p.Ile745Leu
ENST00000619009.5:c.751A>T ENSP00000482293.1:p.Ile251Leu
ENST00000650978.1:c.3665A>T
ENST00000260947.8:c.2290A>T ENSP00000260947.4:p.Ile764Leu
ENST00000432456.5:c.433A>T
ENST00000455743.5:c.*1910A>T ENSP00000412186.1:n.*1910A>T
ENST00000471590.5:n.625A>T
ENST00000613192.1:c.460A>T ENSP00000483275.1:p.Ile154Leu
ENST00000613374.4:c.880A>T ENSP00000484464.1:p.Ile294Leu
ENST00000613706.4:c.937A>T ENSP00000484976.1:p.Ile313Leu
ENST00000617164.4:c.2233A>T ENSP00000480470.1:p.Ile745Leu
ENST00000619009.4:c.751A>T ENSP00000482293.1:p.Ile251Leu
ENST00000620057.4:c.*956A>T ENSP00000481988.1:n.*956A>T
NM_000465.3:c.2290A>T NP_000456.2:p.Ile764Leu
NM_001282543.1:c.2233A>T NP_001269472.1:p.Ile745Leu
NM_001282545.1:c.937A>T NP_001269474.1:p.Ile313Leu
NM_001282548.1:c.880A>T NP_001269477.1:p.Ile294Leu
NM_001282549.1:c.751A>T NP_001269478.1:p.Ile251Leu
NR_104212.1:n.2283A>T
NR_104215.1:n.2226A>T
NR_104216.1:n.1482A>T
XM_011511567.1:c.2236A>T XP_011509869.1:p.Ile746Leu
XM_017004613.1:c.2389A>T XP_016860102.1:p.Ile797Leu
XR_002959322.1:n.2656A>T
NM_000465.4:c.2290A>T MANE Select NP_000456.2:p.Ile764Leu
NM_001282543.2:c.2233A>T NP_001269472.1:p.Ile745Leu
NM_001282545.2:c.937A>T NP_001269474.1:p.Ile313Leu
NM_001282548.2:c.880A>T NP_001269477.1:p.Ile294Leu
NM_001282549.2:c.751A>T NP_001269478.1:p.Ile251Leu
NR_104212.2:n.2255A>T
NR_104215.2:n.2198A>T
NR_104216.2:n.1454A>T