Canonical Allele Identifier: CA598434
Gene: PLOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459810
ClinVar RCV Id: RCV000541188
dbSNP Id: rs746905101
ExAC: 1:12025609 C / T
gnomAD v2: 1-12025609-C-T
gnomAD v4: 1-11965552-C-T
MyVariant Identifiers: chr1:g.12025609C>T (hg19) chr1:g.11965552C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965552C>T , CM000663.2:g.11965552C>T GRCh38
NC_000001.10:g.12025609C>T , CM000663.1:g.12025609C>T GRCh37
NC_000001.9:g.11948196C>T NCBI36
NG_008159.1:g.35864C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1543C>T MANE Select ENSP00000196061.4:p.His515Tyr
ENST00000196061.4:c.1543C>T ENSP00000196061.4:p.His515Tyr
ENST00000470133.1:n.157C>T
ENST00000491536.5:n.171C>T
NM_000302.3:c.1543C>T NP_000293.2:p.His515Tyr
NM_001316320.1:c.1684C>T NP_001303249.1:p.His562Tyr
XM_011541594.1:c.1624C>T XP_011539896.1:p.His542Tyr
XM_024447707.1:c.877C>T XP_024303475.1:p.His293Tyr
NM_000302.4:c.1543C>T MANE Select NP_000293.2:p.His515Tyr
NM_001316320.2:c.1684C>T NP_001303249.1:p.His562Tyr
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