Canonical Allele Identifier: CA338444983
Gene: PLOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2564996
ClinVar RCV Id: RCV003288377
dbSNP Id: rs1286820110
gnomAD v2: 1-12025610-A-G
gnomAD v3: 1-11965553-A-G
gnomAD v4: 1-11965553-A-G
MyVariant Identifiers: chr1:g.12025610A>G (hg19) chr1:g.11965553A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965553A>G , CM000663.2:g.11965553A>G GRCh38
NC_000001.10:g.12025610A>G , CM000663.1:g.12025610A>G GRCh37
NC_000001.9:g.11948197A>G NCBI36
NG_008159.1:g.35865A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1544A>G MANE Select ENSP00000196061.4:p.His515Arg
ENST00000196061.4:c.1544A>G ENSP00000196061.4:p.His515Arg
ENST00000470133.1:n.158A>G
ENST00000491536.5:n.172A>G
NM_000302.3:c.1544A>G NP_000293.2:p.His515Arg
NM_001316320.1:c.1685A>G NP_001303249.1:p.His562Arg
XM_011541594.1:c.1625A>G XP_011539896.1:p.His542Arg
XM_024447707.1:c.878A>G XP_024303475.1:p.His293Arg
NM_000302.4:c.1544A>G MANE Select NP_000293.2:p.His515Arg
NM_001316320.2:c.1685A>G NP_001303249.1:p.His562Arg
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