Canonical Allele Identifier: CA338444349
Gene: PLOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 998541
ClinVar RCV Id: RCV001294413 RCV002284479
dbSNP Id: rs750942824
gnomAD v4: 1-11965486-T-A
MyVariant Identifiers: chr1:g.12025543T>A (hg19) chr1:g.11965486T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965486T>A , CM000663.2:g.11965486T>A GRCh38
NC_000001.10:g.12025543T>A , CM000663.1:g.12025543T>A GRCh37
NC_000001.9:g.11948130T>A NCBI36
NG_008159.1:g.35798T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1477T>A MANE Select ENSP00000196061.4:p.Phe493Ile
ENST00000196061.4:c.1477T>A ENSP00000196061.4:p.Phe493Ile
ENST00000470133.1:n.91T>A
ENST00000491536.5:n.105T>A
NM_000302.3:c.1477T>A NP_000293.2:p.Phe493Ile
NM_001316320.1:c.1618T>A NP_001303249.1:p.Phe540Ile
XM_011541594.1:c.1558T>A XP_011539896.1:p.Phe520Ile
XM_024447707.1:c.811T>A XP_024303475.1:p.Phe271Ile
NM_000302.4:c.1477T>A MANE Select NP_000293.2:p.Phe493Ile
NM_001316320.2:c.1618T>A NP_001303249.1:p.Phe540Ile
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