Canonical Allele Identifier: CA17999086
Gene: PLOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11950377C>T , CM000663.2:g.11950377C>T GRCh38
NC_000001.10:g.12010434C>T , CM000663.1:g.12010434C>T GRCh37
NC_000001.9:g.11933021C>T NCBI36
NG_008159.1:g.20689C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.323C>T MANE Select ENSP00000196061.4:p.Ser108Leu
ENST00000196061.4:c.323C>T ENSP00000196061.4:p.Ser108Leu
ENST00000358133.5:n.369C>T
ENST00000429000.6:c.323C>T ENSP00000405372.1:p.Ser108Leu
ENST00000449038.5:c.464C>T ENSP00000414443.1:p.Ser155Leu
ENST00000485046.5:n.366C>T
NM_000302.3:c.323C>T NP_000293.2:p.Ser108Leu
NM_001316320.1:c.464C>T NP_001303249.1:p.Ser155Leu
XM_011541594.1:c.404C>T XP_011539896.1:p.Ser135Leu
XM_024447707.1:c.-344C>T XP_024303475.1:n.-344C>T
NM_000302.4:c.323C>T MANE Select NP_000293.2:p.Ser108Leu
NM_001316320.2:c.464C>T NP_001303249.1:p.Ser155Leu