Canonical Allele Identifier: CA598010

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11954864G>A , CM000663.2:g.11954864G>A	GRCh38
NC_000001.10:g.12014921G>A , CM000663.1:g.12014921G>A	GRCh37
NC_000001.9:g.11937508G>A	NCBI36
NG_008159.1:g.25176G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.614G>A MANE Select	ENSP00000196061.4:p.Arg205His
ENST00000196061.4:c.614G>A	ENSP00000196061.4:p.Arg205His
ENST00000429000.6:c.614G>A	ENSP00000405372.1:p.Arg205His
ENST00000465920.1:n.564G>A
ENST00000485046.5:n.657G>A
NM_000302.3:c.614G>A	NP_000293.2:p.Arg205His
NM_001316320.1:c.755G>A	NP_001303249.1:p.Arg252His
XM_011541594.1:c.695G>A	XP_011539896.1:p.Arg232His
XM_024447707.1:c.-53G>A	XP_024303475.1:n.-53G>A
NM_000302.4:c.614G>A MANE Select	NP_000293.2:p.Arg205His
NM_001316320.2:c.755G>A	NP_001303249.1:p.Arg252His