Canonical Allele Identifier: CA598042

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11956921G>T , CM000663.2:g.11956921G>T	GRCh38
NC_000001.10:g.12016978G>T , CM000663.1:g.12016978G>T	GRCh37
NC_000001.9:g.11939565G>T	NCBI36
NG_008159.1:g.27233G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.648G>T MANE Select	ENSP00000196061.4:p.Glu216Asp
ENST00000196061.4:c.648G>T	ENSP00000196061.4:p.Glu216Asp
ENST00000429000.6:c.644-169G>T	ENSP00000405372.1:n.644-169G>T
ENST00000465920.1:n.598G>T
ENST00000485046.5:n.691G>T
NM_000302.3:c.648G>T	NP_000293.2:p.Glu216Asp
NM_001316320.1:c.789G>T	NP_001303249.1:p.Glu263Asp
XM_011541594.1:c.729G>T	XP_011539896.1:p.Glu243Asp
XM_024447707.1:c.-19G>T	XP_024303475.1:n.-19G>T
NM_000302.4:c.648G>T MANE Select	NP_000293.2:p.Glu216Asp
NM_001316320.2:c.789G>T	NP_001303249.1:p.Glu263Asp