Canonical Allele Identifier: CA597780

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11947988T>C , CM000663.2:g.11947988T>C	GRCh38
NC_000001.10:g.12008045T>C , CM000663.1:g.12008045T>C	GRCh37
NC_000001.9:g.11930632T>C	NCBI36
NG_008159.1:g.18300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.89T>C MANE Select	ENSP00000196061.4:p.Val30Ala
ENST00000196061.4:c.89T>C	ENSP00000196061.4:p.Val30Ala
ENST00000358133.5:n.135T>C
ENST00000429000.6:c.89T>C	ENSP00000405372.1:p.Val30Ala
ENST00000449038.5:c.230T>C	ENSP00000414443.1:p.Val77Ala
ENST00000485046.5:n.132T>C
NM_000302.3:c.89T>C	NP_000293.2:p.Val30Ala
NM_001316320.1:c.230T>C	NP_001303249.1:p.Val77Ala
XM_011541594.1:c.170T>C	XP_011539896.1:p.Val57Ala
XM_024447707.1:c.-578T>C	XP_024303475.1:n.-578T>C
NM_000302.4:c.89T>C MANE Select	NP_000293.2:p.Val30Ala
NM_001316320.2:c.230T>C	NP_001303249.1:p.Val77Ala