Canonical Allele Identifier: CA18014175
Gene: PLOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1149763
ClinVar RCV Id: RCV001490113
dbSNP Id: rs1034116707
gnomAD v3: 1-11965524-G-A
gnomAD v4: 1-11965524-G-A
MyVariant Identifiers: chr1:g.12025581G>A (hg19) chr1:g.11965524G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965524G>A , CM000663.2:g.11965524G>A GRCh38
NC_000001.10:g.12025581G>A , CM000663.1:g.12025581G>A GRCh37
NC_000001.9:g.11948168G>A NCBI36
NG_008159.1:g.35836G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1515G>A MANE Select ENSP00000196061.4:p.Leu505=
ENST00000196061.4:c.1515G>A ENSP00000196061.4:p.Leu505=
ENST00000470133.1:n.129G>A
ENST00000491536.5:n.143G>A
NM_000302.3:c.1515G>A NP_000293.2:p.Leu505=
NM_001316320.1:c.1656G>A NP_001303249.1:p.Leu552=
XM_011541594.1:c.1596G>A XP_011539896.1:p.Leu532=
XM_024447707.1:c.849G>A XP_024303475.1:p.Leu283=
NM_000302.4:c.1515G>A MANE Select NP_000293.2:p.Leu505=
NM_001316320.2:c.1656G>A NP_001303249.1:p.Leu552=
Search 100 bp 5'
Search 100 bp 3'