Canonical Allele Identifier: CA18014202
Gene: PLOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459809
ClinVar RCV Id: RCV000538108
dbSNP Id: rs1025133534
gnomAD v3: 1-11965539-C-T
gnomAD v4: 1-11965539-C-T
MyVariant Identifiers: chr1:g.12025596C>T (hg19) chr1:g.11965539C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965539C>T , CM000663.2:g.11965539C>T GRCh38
NC_000001.10:g.12025596C>T , CM000663.1:g.12025596C>T GRCh37
NC_000001.9:g.11948183C>T NCBI36
NG_008159.1:g.35851C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1530C>T MANE Select ENSP00000196061.4:p.Ser510=
ENST00000196061.4:c.1530C>T ENSP00000196061.4:p.Ser510=
ENST00000470133.1:n.144C>T
ENST00000491536.5:n.158C>T
NM_000302.3:c.1530C>T NP_000293.2:p.Ser510=
NM_001316320.1:c.1671C>T NP_001303249.1:p.Ser557=
XM_011541594.1:c.1611C>T XP_011539896.1:p.Ser537=
XM_024447707.1:c.864C>T XP_024303475.1:p.Ser288=
NM_000302.4:c.1530C>T MANE Select NP_000293.2:p.Ser510=
NM_001316320.2:c.1671C>T NP_001303249.1:p.Ser557=
Search 100 bp 5'
Search 100 bp 3'