Canonical Allele Identifier: CA1153865230
Gene: PLOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1645808386
gnomAD v4: 1-11965351-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965351T>C , CM000663.2:g.11965351T>C GRCh38
NC_000001.10:g.12025408T>C , CM000663.1:g.12025408T>C GRCh37
NC_000001.9:g.11947995T>C NCBI36
NG_008159.1:g.35663T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1471-129T>C MANE Select ENSP00000196061.4:n.1471-129T>C
ENST00000196061.4:c.1471-129T>C ENSP00000196061.4:n.1471-129T>C
ENST00000470133.1:n.85-129T>C
ENST00000491536.5:n.99-129T>C
NM_000302.3:c.1471-129T>C NP_000293.2:n.1471-129T>C
NM_001316320.1:c.1612-129T>C NP_001303249.1:n.1612-129T>C
XM_011541594.1:c.1552-129T>C XP_011539896.1:n.1552-129T>C
XM_024447707.1:c.805-129T>C XP_024303475.1:n.805-129T>C
NM_000302.4:c.1471-129T>C MANE Select NP_000293.2:n.1471-129T>C
NM_001316320.2:c.1612-129T>C NP_001303249.1:n.1612-129T>C
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