Canonical Allele Identifier: CA597851
Gene: PLOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11949898C>T , CM000663.2:g.11949898C>T GRCh38
NC_000001.10:g.12009955C>T , CM000663.1:g.12009955C>T GRCh37
NC_000001.9:g.11932542C>T NCBI36
NG_008159.1:g.20210C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.294C>T MANE Select ENSP00000196061.4:p.Phe98=
ENST00000196061.4:c.294C>T ENSP00000196061.4:p.Phe98=
ENST00000358133.5:n.340C>T
ENST00000429000.6:c.294C>T ENSP00000405372.1:p.Phe98=
ENST00000449038.5:c.435C>T ENSP00000414443.1:p.Phe145=
ENST00000485046.5:n.337C>T
NM_000302.3:c.294C>T NP_000293.2:p.Phe98=
NM_001316320.1:c.435C>T NP_001303249.1:p.Phe145=
XM_011541594.1:c.375C>T XP_011539896.1:p.Phe125=
XM_024447707.1:c.-373C>T XP_024303475.1:n.-373C>T
NM_000302.4:c.294C>T MANE Select NP_000293.2:p.Phe98=
NM_001316320.2:c.435C>T NP_001303249.1:p.Phe145=