Canonical Allele Identifier: CA338425742

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11948035C>A , CM000663.2:g.11948035C>A	GRCh38
NC_000001.10:g.12008092C>A , CM000663.1:g.12008092C>A	GRCh37
NC_000001.9:g.11930679C>A	NCBI36
NG_008159.1:g.18347C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.136C>A MANE Select	ENSP00000196061.4:p.Arg46Ser
ENST00000196061.4:c.136C>A	ENSP00000196061.4:p.Arg46Ser
ENST00000358133.5:n.182C>A
ENST00000429000.6:c.136C>A	ENSP00000405372.1:p.Arg46Ser
ENST00000449038.5:c.277C>A	ENSP00000414443.1:p.Arg93Ser
ENST00000485046.5:n.179C>A
NM_000302.3:c.136C>A	NP_000293.2:p.Arg46Ser
NM_001316320.1:c.277C>A	NP_001303249.1:p.Arg93Ser
XM_011541594.1:c.217C>A	XP_011539896.1:p.Arg73Ser
XM_024447707.1:c.-531C>A	XP_024303475.1:n.-531C>A
NM_000302.4:c.136C>A MANE Select	NP_000293.2:p.Arg46Ser
NM_001316320.2:c.277C>A	NP_001303249.1:p.Arg93Ser