Canonical Allele Identifier: CA281016
Gene: PLOD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11952736G>A , CM000663.2:g.11952736G>A GRCh38
NC_000001.10:g.12012793G>A , CM000663.1:g.12012793G>A GRCh37
NC_000001.9:g.11935380G>A NCBI36
NG_008159.1:g.23048G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.579+1G>A MANE Select ENSP00000196061.4:n.579+1G>A
ENST00000196061.4:c.579+1G>A ENSP00000196061.4:n.579+1G>A
ENST00000358133.5:n.625+1G>A
ENST00000429000.6:c.579+1G>A ENSP00000405372.1:n.579+1G>A
ENST00000485046.5:n.622+1G>A
NM_000302.3:c.579+1G>A NP_000293.2:n.579+1G>A
NM_001316320.1:c.720+1G>A NP_001303249.1:n.720+1G>A
XM_011541594.1:c.660+1G>A XP_011539896.1:n.660+1G>A
XM_024447707.1:c.-88+1G>A XP_024303475.1:n.-88+1G>A
NM_000302.4:c.579+1G>A MANE Select NP_000293.2:n.579+1G>A
NM_001316320.2:c.720+1G>A NP_001303249.1:n.720+1G>A
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