Canonical Allele Identifier: CA338444383

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025545C>G (hg19) ; chr1:g.11965488C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965488C>G , CM000663.2:g.11965488C>G	GRCh38
NC_000001.10:g.12025545C>G , CM000663.1:g.12025545C>G	GRCh37
NC_000001.9:g.11948132C>G	NCBI36
NG_008159.1:g.35800C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1479C>G MANE Select	ENSP00000196061.4:p.Phe493Leu
ENST00000196061.4:c.1479C>G	ENSP00000196061.4:p.Phe493Leu
ENST00000470133.1:n.93C>G
ENST00000491536.5:n.107C>G
NM_000302.3:c.1479C>G	NP_000293.2:p.Phe493Leu
NM_001316320.1:c.1620C>G	NP_001303249.1:p.Phe540Leu
XM_011541594.1:c.1560C>G	XP_011539896.1:p.Phe520Leu
XM_024447707.1:c.813C>G	XP_024303475.1:p.Phe271Leu
NM_000302.4:c.1479C>G MANE Select	NP_000293.2:p.Phe493Leu
NM_001316320.2:c.1620C>G	NP_001303249.1:p.Phe540Leu