Canonical Allele Identifier: CA2643331077
Gene: PLOD1 HGNC NCBI

Linked Data

gnomAD v4: 1-11965355-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965355A>C , CM000663.2:g.11965355A>C GRCh38
NC_000001.10:g.12025412A>C , CM000663.1:g.12025412A>C GRCh37
NC_000001.9:g.11947999A>C NCBI36
NG_008159.1:g.35667A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1471-125A>C MANE Select ENSP00000196061.4:n.1471-125A>C
ENST00000196061.4:c.1471-125A>C ENSP00000196061.4:n.1471-125A>C
ENST00000470133.1:n.85-125A>C
ENST00000491536.5:n.99-125A>C
NM_000302.3:c.1471-125A>C NP_000293.2:n.1471-125A>C
NM_001316320.1:c.1612-125A>C NP_001303249.1:n.1612-125A>C
XM_011541594.1:c.1552-125A>C XP_011539896.1:n.1552-125A>C
XM_024447707.1:c.805-125A>C XP_024303475.1:n.805-125A>C
NM_000302.4:c.1471-125A>C MANE Select NP_000293.2:n.1471-125A>C
NM_001316320.2:c.1612-125A>C NP_001303249.1:n.1612-125A>C
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