Canonical Allele Identifier: CA1141633218
Community Standard Title: NM_000302.4(PLOD1):c.136C= (p.Arg46=)
Gene: PLOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11948035C= , CM000663.2:g.11948035C= GRCh38
NC_000001.10:g.12008092C= , CM000663.1:g.12008092C= GRCh37
NC_000001.9:g.11930679C= NCBI36
NG_008159.1:g.18347C=

Transcript Alleles

HGVS Amino-acid Change
NM_000302.4:c.136C= MANE Select NP_000293.2:p.Arg46=
ENST00000196061.5:c.136C= MANE Select ENSP00000196061.4:p.Arg46=
NM_000302.3:c.136C= NP_000293.2:p.Arg46=
NM_001316320.1:c.277C= NP_001303249.1:p.Arg93=
NM_001316320.2:c.277C= NP_001303249.1:p.Arg93=
ENST00000196061.4:c.136C= ENSP00000196061.4:p.Arg46=
ENST00000358133.5:n.182C=
ENST00000429000.6:c.136C= ENSP00000405372.1:p.Arg46=
ENST00000449038.5:c.277C= ENSP00000414443.1:p.Arg93=
ENST00000485046.5:n.179C=
XM_011541594.1:c.217C= XP_011539896.1:p.Arg73=
XM_024447707.1:c.-531C= XP_024303475.1:n.-531C=