Canonical Allele Identifier: CA17999219

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11950593G>A , CM000663.2:g.11950593G>A	GRCh38
NC_000001.10:g.12010650G>A , CM000663.1:g.12010650G>A	GRCh37
NC_000001.9:g.11933237G>A	NCBI36
NG_008159.1:g.20905G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000302.4:c.466+73G>A MANE Select	NP_000293.2:n.466+73G>A
ENST00000196061.5:c.466+73G>A MANE Select	ENSP00000196061.4:n.466+73G>A
NM_000302.3:c.466+73G>A	NP_000293.2:n.466+73G>A
NM_001316320.1:c.607+73G>A	NP_001303249.1:n.607+73G>A
NM_001316320.2:c.607+73G>A	NP_001303249.1:n.607+73G>A
ENST00000196061.4:c.466+73G>A	ENSP00000196061.4:n.466+73G>A
ENST00000358133.5:n.512+73G>A
ENST00000429000.6:c.466+73G>A	ENSP00000405372.1:n.466+73G>A
ENST00000449038.5:c.607+73G>A	ENSP00000414443.1:n.607+73G>A
ENST00000485046.5:n.509+73G>A
XM_011541594.1:c.547+73G>A	XP_011539896.1:n.547+73G>A
XM_024447707.1:c.-201+73G>A	XP_024303475.1:n.-201+73G>A