Canonical Allele Identifier: CA2321015955
Community Standard Title: NM_001171155.2(PET100):c.142C= (p.Gln48=)
Gene: PET100 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7631476C= , CM000681.2:g.7631476C= GRCh38
NC_000019.9:g.7696362C= , CM000681.1:g.7696362C= GRCh37
NC_000019.8:g.7602362C= NCBI36
NG_034117.1:g.6692C=

Transcript Alleles

HGVS Amino-acid Change
NM_001171155.2:c.142C= MANE Select NP_001164626.1:p.Gln48=
ENST00000594797.6:c.142C= MANE Select ENSP00000470539.1:p.Gln48=
NM_001171155.1:c.142C= NP_001164626.1:p.Gln48=
NR_033242.1:n.281C=
NR_033242.2:n.273C=
ENST00000456958.7:c.55C= ENSP00000392303.3:p.Gln19=
ENST00000594797.5:c.142C= ENSP00000470539.1:p.Gln48=
ENST00000595866.1:c.136+630C=
ENST00000595866.2:c.138+630C= ENSP00000469553.2:n.138+630C=
ENST00000598540.6:c.227C=
ENST00000598664.5:c.51+630C= ENSP00000472796.1:n.51+630C=
ENST00000599243.5:c.139-174C= ENSP00000470078.1:n.139-174C=
ENST00000600836.1:n.326C=
ENST00000623154.1:n.1668C=
ENST00000698367.1:n.85+630C=
ENST00000698368.1:c.114+817C= ENSP00000513686.1:n.114+817C=
ENST00000698396.1:c.91C= ENSP00000513691.1:p.Gln31=
ENST00000698397.1:c.*239C= ENSP00000513692.1:n.*239C=
ENST00000698398.1:c.208C= ENSP00000513693.1:n.208C=