Canonical Allele Identifier: CA338444489

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 1029783
• ClinVar RCV Id: RCV001331146
• dbSNP Id: rs1645810603
• MyVariant Identifiers: chr1:g.12025560C>G (hg19) ; chr1:g.11965503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965503C>G , CM000663.2:g.11965503C>G	GRCh38
NC_000001.10:g.12025560C>G , CM000663.1:g.12025560C>G	GRCh37
NC_000001.9:g.11948147C>G	NCBI36
NG_008159.1:g.35815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1494C>G MANE Select	ENSP00000196061.4:p.Asn498Lys
ENST00000196061.4:c.1494C>G	ENSP00000196061.4:p.Asn498Lys
ENST00000470133.1:n.108C>G
ENST00000491536.5:n.122C>G
NM_000302.3:c.1494C>G	NP_000293.2:p.Asn498Lys
NM_001316320.1:c.1635C>G	NP_001303249.1:p.Asn545Lys
XM_011541594.1:c.1575C>G	XP_011539896.1:p.Asn525Lys
XM_024447707.1:c.828C>G	XP_024303475.1:p.Asn276Lys
NM_000302.4:c.1494C>G MANE Select	NP_000293.2:p.Asn498Lys
NM_001316320.2:c.1635C>G	NP_001303249.1:p.Asn545Lys