Canonical Allele Identifier: CA597788

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 459803
• ClinVar RCV Id: RCV000532117 ; RCV001527341 ; RCV002448653 ; RCV003324532
• dbSNP Id: rs369263247
• ExAC: 1:12008065 G / A
• gnomAD v2: 1-12008065-G-A
• gnomAD v3: 1-11948008-G-A
• gnomAD v4: 1-11948008-G-A
• COSMIC: COSM5977843 ; COSM5977844 ; COSM5977845 ; COSM5977846
• MyVariant Identifiers: chr1:g.12008065G>A (hg19) ; chr1:g.11948008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11948008G>A , CM000663.2:g.11948008G>A	GRCh38
NC_000001.10:g.12008065G>A , CM000663.1:g.12008065G>A	GRCh37
NC_000001.9:g.11930652G>A	NCBI36
NG_008159.1:g.18320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.109G>A MANE Select	ENSP00000196061.4:p.Glu37Lys
ENST00000196061.4:c.109G>A	ENSP00000196061.4:p.Glu37Lys
ENST00000358133.5:n.155G>A
ENST00000429000.6:c.109G>A	ENSP00000405372.1:p.Glu37Lys
ENST00000449038.5:c.250G>A	ENSP00000414443.1:p.Glu84Lys
ENST00000485046.5:n.152G>A
NM_000302.3:c.109G>A	NP_000293.2:p.Glu37Lys
NM_001316320.1:c.250G>A	NP_001303249.1:p.Glu84Lys
XM_011541594.1:c.190G>A	XP_011539896.1:p.Glu64Lys
XM_024447707.1:c.-558G>A	XP_024303475.1:n.-558G>A
NM_000302.4:c.109G>A MANE Select	NP_000293.2:p.Glu37Lys
NM_001316320.2:c.250G>A	NP_001303249.1:p.Glu84Lys