Canonical Allele Identifier: CA338444325
Gene: PLOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231125
ClinVar RCV Id: RCV004523239
dbSNP Id: rs1283020139
gnomAD v3: 1-11965480-G-T
gnomAD v4: 1-11965480-G-T
COSMIC: COSM4608207 COSM4608208
MyVariant Identifiers: chr1:g.12025537G>T (hg19) chr1:g.11965480G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965480G>T , CM000663.2:g.11965480G>T GRCh38
NC_000001.10:g.12025537G>T , CM000663.1:g.12025537G>T GRCh37
NC_000001.9:g.11948124G>T NCBI36
NG_008159.1:g.35792G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1471G>T MANE Select ENSP00000196061.4:p.Asp491Tyr
ENST00000196061.4:c.1471G>T ENSP00000196061.4:p.Asp491Tyr
ENST00000470133.1:n.85G>T
ENST00000491536.5:n.99G>T
NM_000302.3:c.1471G>T NP_000293.2:p.Asp491Tyr
NM_001316320.1:c.1612G>T NP_001303249.1:p.Asp538Tyr
XM_011541594.1:c.1552G>T XP_011539896.1:p.Asp518Tyr
XM_024447707.1:c.805G>T XP_024303475.1:p.Asp269Tyr
NM_000302.4:c.1471G>T MANE Select NP_000293.2:p.Asp491Tyr
NM_001316320.2:c.1612G>T NP_001303249.1:p.Asp538Tyr
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