Canonical Allele Identifier: CA1153878348
Community Standard Title: NM_000302.4(PLOD1):c.579+1G=
Gene: PLOD1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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