Canonical Allele Identifier: CA598066

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11957021G>A , CM000663.2:g.11957021G>A	GRCh38
NC_000001.10:g.12017078G>A , CM000663.1:g.12017078G>A	GRCh37
NC_000001.9:g.11939665G>A	NCBI36
NG_008159.1:g.27333G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000302.4:c.741+7G>A MANE Select	NP_000293.2:n.741+7G>A
ENST00000196061.5:c.741+7G>A MANE Select	ENSP00000196061.4:n.741+7G>A
NM_000302.3:c.741+7G>A	NP_000293.2:n.741+7G>A
NM_001316320.1:c.882+7G>A	NP_001303249.1:n.882+7G>A
NM_001316320.2:c.882+7G>A	NP_001303249.1:n.882+7G>A
ENST00000196061.4:c.741+7G>A	ENSP00000196061.4:n.741+7G>A
ENST00000429000.6:c.644-69G>A	ENSP00000405372.1:n.644-69G>A
ENST00000465920.1:n.691+7G>A
ENST00000485046.5:n.784+7G>A
XM_011541594.1:c.822+7G>A	XP_011539896.1:n.822+7G>A
XM_024447707.1:c.75+7G>A	XP_024303475.1:n.75+7G>A