Canonical Allele Identifier: CA338444700
Gene: PLOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1205941
ClinVar RCV Id: RCV001572877 RCV001866042 RCV003161119
dbSNP Id: rs1374717198
gnomAD v2: 1-12025582-C-T
gnomAD v3: 1-11965525-C-T
gnomAD v4: 1-11965525-C-T
MyVariant Identifiers: chr1:g.12025582C>T (hg19) chr1:g.11965525C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965525C>T , CM000663.2:g.11965525C>T GRCh38
NC_000001.10:g.12025582C>T , CM000663.1:g.12025582C>T GRCh37
NC_000001.9:g.11948169C>T NCBI36
NG_008159.1:g.35837C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1516C>T MANE Select ENSP00000196061.4:p.Leu506Phe
ENST00000196061.4:c.1516C>T ENSP00000196061.4:p.Leu506Phe
ENST00000470133.1:n.130C>T
ENST00000491536.5:n.144C>T
NM_000302.3:c.1516C>T NP_000293.2:p.Leu506Phe
NM_001316320.1:c.1657C>T NP_001303249.1:p.Leu553Phe
XM_011541594.1:c.1597C>T XP_011539896.1:p.Leu533Phe
XM_024447707.1:c.850C>T XP_024303475.1:p.Leu284Phe
NM_000302.4:c.1516C>T MANE Select NP_000293.2:p.Leu506Phe
NM_001316320.2:c.1657C>T NP_001303249.1:p.Leu553Phe
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