Canonical Allele Identifier: CA598425

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 459808
• ClinVar RCV Id: RCV001087777 ; RCV002395331 ; RCV000827558
• dbSNP Id: rs139165192
• ExAC: 1:12025539 T / C
• gnomAD v2: 1-12025539-T-C
• gnomAD v3: 1-11965482-T-C
• gnomAD v4: 1-11965482-T-C
• MyVariant Identifiers: chr1:g.12025539T>C (hg19) ; chr1:g.11965482T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965482T>C , CM000663.2:g.11965482T>C	GRCh38
NC_000001.10:g.12025539T>C , CM000663.1:g.12025539T>C	GRCh37
NC_000001.9:g.11948126T>C	NCBI36
NG_008159.1:g.35794T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1473T>C MANE Select	ENSP00000196061.4:p.Asp491=
ENST00000196061.4:c.1473T>C	ENSP00000196061.4:p.Asp491=
ENST00000470133.1:n.87T>C
ENST00000491536.5:n.101T>C
NM_000302.3:c.1473T>C	NP_000293.2:p.Asp491=
NM_001316320.1:c.1614T>C	NP_001303249.1:p.Asp538=
XM_011541594.1:c.1554T>C	XP_011539896.1:p.Asp518=
XM_024447707.1:c.807T>C	XP_024303475.1:p.Asp269=
NM_000302.4:c.1473T>C MANE Select	NP_000293.2:p.Asp491=
NM_001316320.2:c.1614T>C	NP_001303249.1:p.Asp538=