Canonical Allele Identifier: CA18014058
Gene: PLOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2039245
ClinVar RCV Id: RCV002899747
dbSNP Id: rs892911543
gnomAD v2: 1-12025517-A-G
gnomAD v3: 1-11965460-A-G
gnomAD v4: 1-11965460-A-G
MyVariant Identifiers: chr1:g.12025517A>G (hg19) chr1:g.11965460A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965460A>G , CM000663.2:g.11965460A>G GRCh38
NC_000001.10:g.12025517A>G , CM000663.1:g.12025517A>G GRCh37
NC_000001.9:g.11948104A>G NCBI36
NG_008159.1:g.35772A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1471-20A>G MANE Select ENSP00000196061.4:n.1471-20A>G
ENST00000196061.4:c.1471-20A>G ENSP00000196061.4:n.1471-20A>G
ENST00000470133.1:n.85-20A>G
ENST00000491536.5:n.99-20A>G
NM_000302.3:c.1471-20A>G NP_000293.2:n.1471-20A>G
NM_001316320.1:c.1612-20A>G NP_001303249.1:n.1612-20A>G
XM_011541594.1:c.1552-20A>G XP_011539896.1:n.1552-20A>G
XM_024447707.1:c.805-20A>G XP_024303475.1:n.805-20A>G
NM_000302.4:c.1471-20A>G MANE Select NP_000293.2:n.1471-20A>G
NM_001316320.2:c.1612-20A>G NP_001303249.1:n.1612-20A>G
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