Canonical Allele Identifier: CA597935

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 292283
• ClinVar RCV Id: RCV000318266 ; RCV000616105 ; RCV002278331 ; RCV002314035
• dbSNP Id: rs35958757
• ExAC: 1:12012753 G / A
• gnomAD v2: 1-12012753-G-A
• gnomAD v3: 1-11952696-G-A
• gnomAD v4: 1-11952696-G-A
• MyVariant Identifiers: chr1:g.12012753G>A (hg19) ; chr1:g.11952696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11952696G>A , CM000663.2:g.11952696G>A	GRCh38
NC_000001.10:g.12012753G>A , CM000663.1:g.12012753G>A	GRCh37
NC_000001.9:g.11935340G>A	NCBI36
NG_008159.1:g.23008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.540G>A MANE Select	ENSP00000196061.4:p.Gln180=
ENST00000196061.4:c.540G>A	ENSP00000196061.4:p.Gln180=
ENST00000358133.5:n.586G>A
ENST00000429000.6:c.540G>A	ENSP00000405372.1:p.Gln180=
ENST00000485046.5:n.583G>A
NM_000302.3:c.540G>A	NP_000293.2:p.Gln180=
NM_001316320.1:c.681G>A	NP_001303249.1:p.Gln227=
XM_011541594.1:c.621G>A	XP_011539896.1:p.Gln207=
XM_024447707.1:c.-127G>A	XP_024303475.1:n.-127G>A
NM_000302.4:c.540G>A MANE Select	NP_000293.2:p.Gln180=
NM_001316320.2:c.681G>A	NP_001303249.1:p.Gln227=