Canonical Allele Identifier: CA521201720

Gene: PLOD1

Linked Data

• dbSNP Id: rs1225727534
• gnomAD v2: 1-12025664-G-A
• gnomAD v4: 1-11965607-G-A
• MyVariant Identifiers: chr1:g.12025664G>A (hg19) ; chr1:g.11965607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965607G>A , CM000663.2:g.11965607G>A	GRCh38
NC_000001.10:g.12025664G>A , CM000663.1:g.12025664G>A	GRCh37
NC_000001.9:g.11948251G>A	NCBI36
NG_008159.1:g.35919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1584+14G>A MANE Select	ENSP00000196061.4:n.1584+14G>A
ENST00000196061.4:c.1584+14G>A	ENSP00000196061.4:n.1584+14G>A
ENST00000470133.1:n.198+14G>A
ENST00000491536.5:n.212+14G>A
NM_000302.3:c.1584+14G>A	NP_000293.2:n.1584+14G>A
NM_001316320.1:c.1725+14G>A	NP_001303249.1:n.1725+14G>A
XM_011541594.1:c.1665+14G>A	XP_011539896.1:n.1665+14G>A
XM_024447707.1:c.918+14G>A	XP_024303475.1:n.918+14G>A
NM_000302.4:c.1584+14G>A MANE Select	NP_000293.2:n.1584+14G>A
NM_001316320.2:c.1725+14G>A	NP_001303249.1:n.1725+14G>A