Canonical Allele Identifier: CA129213
Gene: DIABLO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.122216808G>A , CM000674.2:g.122216808G>A GRCh38
NC_000012.11:g.122701355G>A , CM000674.1:g.122701355G>A GRCh37
NC_000012.10:g.121267308G>A NCBI36
NG_029459.1:g.15714C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267169.11:c.377C>T ENSP00000267169.7:p.Ser126Leu
ENST00000353548.11:c.245C>T ENSP00000320343.6:p.Ser82Leu
ENST00000439489.6:c.86C>T ENSP00000390818.2:p.Ser29Leu
ENST00000443649.9:c.158C>T ENSP00000398495.4:p.Ser53Leu
ENST00000464942.7:c.377C>T MANE Select ENSP00000442360.2:p.Ser126Leu
ENST00000489781.3:n.982C>T
ENST00000540535.6:c.*291C>T ENSP00000441139.2:n.*291C>T
ENST00000541273.6:c.*75C>T ENSP00000440971.2:n.*75C>T
ENST00000541656.6:c.514C>T
ENST00000642640.1:n.2221C>T
ENST00000644227.1:c.*157C>T ENSP00000494535.1:n.*157C>T
ENST00000644509.1:n.1612C>T
ENST00000645569.1:n.1705C>T
ENST00000645606.1:c.*792C>T ENSP00000493911.1:n.*792C>T
ENST00000650715.1:c.377C>T ENSP00000499058.1:p.Ser126Leu
ENST00000267169.10:c.218C>T ENSP00000267169.6:p.Ser73Leu
ENST00000342392.3:c.*207C>T ENSP00000339963.3:n.*207C>T
ENST00000353548.10:c.245C>T ENSP00000320343.6:p.Ser82Leu
ENST00000413918.5:c.158C>T ENSP00000411638.2:p.Ser53Leu
ENST00000439489.5:c.64C>T
ENST00000443649.7:c.377C>T ENSP00000398495.3:p.Ser126Leu
ENST00000446652.5:c.372C>T
ENST00000464942.6:c.218C>T ENSP00000442360.1:p.Ser73Leu
ENST00000474004.6:c.158C>T ENSP00000442669.1:p.Ser53Leu
ENST00000485724.1:c.158C>T ENSP00000438710.1:p.Ser53Leu
ENST00000489781.2:n.1601C>T
ENST00000535844.1:c.*171C>T ENSP00000454454.1:n.*171C>T
ENST00000540535.5:c.158C>T ENSP00000441139.1:p.Ser53Leu
ENST00000541273.5:c.86C>T ENSP00000440971.1:p.Ser29Leu
ENST00000541656.5:c.158C>T ENSP00000440653.1:p.Ser53Leu
NM_001278302.1:c.86C>T NP_001265231.1:p.Ser29Leu
NM_001278303.1:c.158C>T NP_001265232.1:p.Ser53Leu
NM_001278304.1:c.218C>T NP_001265233.1:p.Ser73Leu
NM_001278342.1:c.245C>T NP_001265271.1:p.Ser82Leu
NM_019887.5:c.377C>T NP_063940.1:p.Ser126Leu
NM_138930.3:c.218C>T NP_620308.1:p.Ser73Leu
NM_001278304.2:c.218C>T NP_001265233.1:p.Ser73Leu
NM_001371333.1:c.377C>T MANE Select NP_001358262.1:p.Ser126Leu
NM_019887.6:c.377C>T NP_063940.1:p.Ser126Leu