Canonical Allele Identifier: CA338444354

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025543T>G (hg19) ; chr1:g.11965486T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965486T>G , CM000663.2:g.11965486T>G	GRCh38
NC_000001.10:g.12025543T>G , CM000663.1:g.12025543T>G	GRCh37
NC_000001.9:g.11948130T>G	NCBI36
NG_008159.1:g.35798T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1477T>G MANE Select	ENSP00000196061.4:p.Phe493Val
ENST00000196061.4:c.1477T>G	ENSP00000196061.4:p.Phe493Val
ENST00000470133.1:n.91T>G
ENST00000491536.5:n.105T>G
NM_000302.3:c.1477T>G	NP_000293.2:p.Phe493Val
NM_001316320.1:c.1618T>G	NP_001303249.1:p.Phe540Val
XM_011541594.1:c.1558T>G	XP_011539896.1:p.Phe520Val
XM_024447707.1:c.811T>G	XP_024303475.1:p.Phe271Val
NM_000302.4:c.1477T>G MANE Select	NP_000293.2:p.Phe493Val
NM_001316320.2:c.1618T>G	NP_001303249.1:p.Phe540Val