Canonical Allele Identifier: CA598132

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11957873C>T , CM000663.2:g.11957873C>T	GRCh38
NC_000001.10:g.12017930C>T , CM000663.1:g.12017930C>T	GRCh37
NC_000001.9:g.11940517C>T	NCBI36
NG_008159.1:g.28185C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.773C>T MANE Select	ENSP00000196061.4:p.Pro258Leu
ENST00000196061.4:c.773C>T	ENSP00000196061.4:p.Pro258Leu
ENST00000429000.6:c.779C>T	ENSP00000405372.1:p.Pro260Leu
ENST00000465920.1:n.723C>T
ENST00000485046.5:n.816C>T
NM_000302.3:c.773C>T	NP_000293.2:p.Pro258Leu
NM_001316320.1:c.914C>T	NP_001303249.1:p.Pro305Leu
XM_011541594.1:c.854C>T	XP_011539896.1:p.Pro285Leu
XM_024447707.1:c.107C>T	XP_024303475.1:p.Pro36Leu
NM_000302.4:c.773C>T MANE Select	NP_000293.2:p.Pro258Leu
NM_001316320.2:c.914C>T	NP_001303249.1:p.Pro305Leu