Canonical Allele Identifier: CA338444467

Gene: PLOD1

Linked Data

• dbSNP Id: rs1373542252
• gnomAD v4: 1-11965499-C-A
• MyVariant Identifiers: chr1:g.12025556C>A (hg19) ; chr1:g.11965499C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965499C>A , CM000663.2:g.11965499C>A	GRCh38
NC_000001.10:g.12025556C>A , CM000663.1:g.12025556C>A	GRCh37
NC_000001.9:g.11948143C>A	NCBI36
NG_008159.1:g.35811C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1490C>A MANE Select	ENSP00000196061.4:p.Thr497Asn
ENST00000196061.4:c.1490C>A	ENSP00000196061.4:p.Thr497Asn
ENST00000470133.1:n.104C>A
ENST00000491536.5:n.118C>A
NM_000302.3:c.1490C>A	NP_000293.2:p.Thr497Asn
NM_001316320.1:c.1631C>A	NP_001303249.1:p.Thr544Asn
XM_011541594.1:c.1571C>A	XP_011539896.1:p.Thr524Asn
XM_024447707.1:c.824C>A	XP_024303475.1:p.Thr275Asn
NM_000302.4:c.1490C>A MANE Select	NP_000293.2:p.Thr497Asn
NM_001316320.2:c.1631C>A	NP_001303249.1:p.Thr544Asn