Canonical Allele Identifier: CA17999093

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11950385C>A , CM000663.2:g.11950385C>A	GRCh38
NC_000001.10:g.12010442C>A , CM000663.1:g.12010442C>A	GRCh37
NC_000001.9:g.11933029C>A	NCBI36
NG_008159.1:g.20697C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000302.4:c.331C>A MANE Select	NP_000293.2:p.Arg111=
ENST00000196061.5:c.331C>A MANE Select	ENSP00000196061.4:p.Arg111=
NM_000302.3:c.331C>A	NP_000293.2:p.Arg111=
NM_001316320.1:c.472C>A	NP_001303249.1:p.Arg158=
NM_001316320.2:c.472C>A	NP_001303249.1:p.Arg158=
ENST00000196061.4:c.331C>A	ENSP00000196061.4:p.Arg111=
ENST00000358133.5:n.377C>A
ENST00000429000.6:c.331C>A	ENSP00000405372.1:p.Arg111=
ENST00000449038.5:c.472C>A	ENSP00000414443.1:p.Arg158=
ENST00000485046.5:n.374C>A
XM_011541594.1:c.412C>A	XP_011539896.1:p.Arg138=
XM_024447707.1:c.-336C>A	XP_024303475.1:n.-336C>A