Canonical Allele Identifier: CA18014220
Gene: PLOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1672109
ClinVar RCV Id: RCV002201517
dbSNP Id: rs916626462
gnomAD v2: 1-12025608-C-T
gnomAD v4: 1-11965551-C-T
COSMIC: COSM3472242 COSM3472243
MyVariant Identifiers: chr1:g.12025608C>T (hg19) chr1:g.11965551C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965551C>T , CM000663.2:g.11965551C>T GRCh38
NC_000001.10:g.12025608C>T , CM000663.1:g.12025608C>T GRCh37
NC_000001.9:g.11948195C>T NCBI36
NG_008159.1:g.35863C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1542C>T MANE Select ENSP00000196061.4:p.Thr514=
ENST00000196061.4:c.1542C>T ENSP00000196061.4:p.Thr514=
ENST00000470133.1:n.156C>T
ENST00000491536.5:n.170C>T
NM_000302.3:c.1542C>T NP_000293.2:p.Thr514=
NM_001316320.1:c.1683C>T NP_001303249.1:p.Thr561=
XM_011541594.1:c.1623C>T XP_011539896.1:p.Thr541=
XM_024447707.1:c.876C>T XP_024303475.1:p.Thr292=
NM_000302.4:c.1542C>T MANE Select NP_000293.2:p.Thr514=
NM_001316320.2:c.1683C>T NP_001303249.1:p.Thr561=
Search 100 bp 5'
Search 100 bp 3'