Canonical Allele Identifier: CA2643331056
Gene: PLOD1 HGNC NCBI

Linked Data

gnomAD v4: 1-11965339-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965339G>C , CM000663.2:g.11965339G>C GRCh38
NC_000001.10:g.12025396G>C , CM000663.1:g.12025396G>C GRCh37
NC_000001.9:g.11947983G>C NCBI36
NG_008159.1:g.35651G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1471-141G>C MANE Select ENSP00000196061.4:n.1471-141G>C
ENST00000196061.4:c.1471-141G>C ENSP00000196061.4:n.1471-141G>C
ENST00000470133.1:n.85-141G>C
ENST00000491536.5:n.99-141G>C
NM_000302.3:c.1471-141G>C NP_000293.2:n.1471-141G>C
NM_001316320.1:c.1612-141G>C NP_001303249.1:n.1612-141G>C
XM_011541594.1:c.1552-141G>C XP_011539896.1:n.1552-141G>C
XM_024447707.1:c.805-141G>C XP_024303475.1:n.805-141G>C
NM_000302.4:c.1471-141G>C MANE Select NP_000293.2:n.1471-141G>C
NM_001316320.2:c.1612-141G>C NP_001303249.1:n.1612-141G>C
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