Canonical Allele Identifier: CA338444736

Gene: PLOD1

Linked Data

• COSMIC: COSM5941559 ; COSM5941560
• MyVariant Identifiers: chr1:g.12025586C>T (hg19) ; chr1:g.11965529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965529C>T , CM000663.2:g.11965529C>T	GRCh38
NC_000001.10:g.12025586C>T , CM000663.1:g.12025586C>T	GRCh37
NC_000001.9:g.11948173C>T	NCBI36
NG_008159.1:g.35841C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1520C>T MANE Select	ENSP00000196061.4:p.Ser507Phe
ENST00000196061.4:c.1520C>T	ENSP00000196061.4:p.Ser507Phe
ENST00000470133.1:n.134C>T
ENST00000491536.5:n.148C>T
NM_000302.3:c.1520C>T	NP_000293.2:p.Ser507Phe
NM_001316320.1:c.1661C>T	NP_001303249.1:p.Ser554Phe
XM_011541594.1:c.1601C>T	XP_011539896.1:p.Ser534Phe
XM_024447707.1:c.854C>T	XP_024303475.1:p.Ser285Phe
NM_000302.4:c.1520C>T MANE Select	NP_000293.2:p.Ser507Phe
NM_001316320.2:c.1661C>T	NP_001303249.1:p.Ser554Phe