Canonical Allele Identifier: CA338445182

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025627T>G (hg19) ; chr1:g.11965570T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965570T>G , CM000663.2:g.11965570T>G	GRCh38
NC_000001.10:g.12025627T>G , CM000663.1:g.12025627T>G	GRCh37
NC_000001.9:g.11948214T>G	NCBI36
NG_008159.1:g.35882T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1561T>G MANE Select	ENSP00000196061.4:p.Trp521Gly
ENST00000196061.4:c.1561T>G	ENSP00000196061.4:p.Trp521Gly
ENST00000470133.1:n.175T>G
ENST00000491536.5:n.189T>G
NM_000302.3:c.1561T>G	NP_000293.2:p.Trp521Gly
NM_001316320.1:c.1702T>G	NP_001303249.1:p.Trp568Gly
XM_011541594.1:c.1642T>G	XP_011539896.1:p.Trp548Gly
XM_024447707.1:c.895T>G	XP_024303475.1:p.Trp299Gly
NM_000302.4:c.1561T>G MANE Select	NP_000293.2:p.Trp521Gly
NM_001316320.2:c.1702T>G	NP_001303249.1:p.Trp568Gly