Canonical Allele Identifier: CA338445294

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025636T>A (hg19) ; chr1:g.11965579T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965579T>A , CM000663.2:g.11965579T>A	GRCh38
NC_000001.10:g.12025636T>A , CM000663.1:g.12025636T>A	GRCh37
NC_000001.9:g.11948223T>A	NCBI36
NG_008159.1:g.35891T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1570T>A MANE Select	ENSP00000196061.4:p.Phe524Ile
ENST00000196061.4:c.1570T>A	ENSP00000196061.4:p.Phe524Ile
ENST00000470133.1:n.184T>A
ENST00000491536.5:n.198T>A
NM_000302.3:c.1570T>A	NP_000293.2:p.Phe524Ile
NM_001316320.1:c.1711T>A	NP_001303249.1:p.Phe571Ile
XM_011541594.1:c.1651T>A	XP_011539896.1:p.Phe551Ile
XM_024447707.1:c.904T>A	XP_024303475.1:p.Phe302Ile
NM_000302.4:c.1570T>A MANE Select	NP_000293.2:p.Phe524Ile
NM_001316320.2:c.1711T>A	NP_001303249.1:p.Phe571Ile