Canonical Allele Identifier: CA598433
Gene: PLOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1371871
ClinVar RCV Id: RCV001864665 RCV002388735
dbSNP Id: rs773170096
ExAC: 1:12025601 G / A
gnomAD v2: 1-12025601-G-A
gnomAD v3: 1-11965544-G-A
gnomAD v4: 1-11965544-G-A
MyVariant Identifiers: chr1:g.12025601G>A (hg19) chr1:g.11965544G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965544G>A , CM000663.2:g.11965544G>A GRCh38
NC_000001.10:g.12025601G>A , CM000663.1:g.12025601G>A GRCh37
NC_000001.9:g.11948188G>A NCBI36
NG_008159.1:g.35856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1535G>A MANE Select ENSP00000196061.4:p.Arg512His
ENST00000196061.4:c.1535G>A ENSP00000196061.4:p.Arg512His
ENST00000470133.1:n.149G>A
ENST00000491536.5:n.163G>A
NM_000302.3:c.1535G>A NP_000293.2:p.Arg512His
NM_001316320.1:c.1676G>A NP_001303249.1:p.Arg559His
XM_011541594.1:c.1616G>A XP_011539896.1:p.Arg539His
XM_024447707.1:c.869G>A XP_024303475.1:p.Arg290His
NM_000302.4:c.1535G>A MANE Select NP_000293.2:p.Arg512His
NM_001316320.2:c.1676G>A NP_001303249.1:p.Arg559His
Search 100 bp 5'
Search 100 bp 3'