Canonical Allele Identifier: CA2643331084
Gene: PLOD1 HGNC NCBI

Linked Data

gnomAD v4: 1-11965356-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965356T>G , CM000663.2:g.11965356T>G GRCh38
NC_000001.10:g.12025413T>G , CM000663.1:g.12025413T>G GRCh37
NC_000001.9:g.11948000T>G NCBI36
NG_008159.1:g.35668T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1471-124T>G MANE Select ENSP00000196061.4:n.1471-124T>G
ENST00000196061.4:c.1471-124T>G ENSP00000196061.4:n.1471-124T>G
ENST00000470133.1:n.85-124T>G
ENST00000491536.5:n.99-124T>G
NM_000302.3:c.1471-124T>G NP_000293.2:n.1471-124T>G
NM_001316320.1:c.1612-124T>G NP_001303249.1:n.1612-124T>G
XM_011541594.1:c.1552-124T>G XP_011539896.1:n.1552-124T>G
XM_024447707.1:c.805-124T>G XP_024303475.1:n.805-124T>G
NM_000302.4:c.1471-124T>G MANE Select NP_000293.2:n.1471-124T>G
NM_001316320.2:c.1612-124T>G NP_001303249.1:n.1612-124T>G
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