Canonical Allele Identifier: CA598311

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 292292
• ClinVar RCV Id: RCV000314130 ; RCV001706428 ; RCV002278332 ; RCV002338870
• dbSNP Id: rs144439284
• ExAC: 1:12023673 G / C
• gnomAD v2: 1-12023673-G-C
• gnomAD v3: 1-11963616-G-C
• gnomAD v4: 1-11963616-G-C
• MyVariant Identifiers: chr1:g.12023673G>C (hg19) ; chr1:g.11963616G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11963616G>C , CM000663.2:g.11963616G>C	GRCh38
NC_000001.10:g.12023673G>C , CM000663.1:g.12023673G>C	GRCh37
NC_000001.9:g.11946260G>C	NCBI36
NG_008159.1:g.33928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1182G>C MANE Select	ENSP00000196061.4:p.Arg394=
ENST00000196061.4:c.1182G>C	ENSP00000196061.4:p.Arg394=
NM_000302.3:c.1182G>C	NP_000293.2:p.Arg394=
NM_001316320.1:c.1323G>C	NP_001303249.1:p.Arg441=
XM_011541594.1:c.1263G>C	XP_011539896.1:p.Arg421=
XM_024447707.1:c.516G>C	XP_024303475.1:p.Arg172=
NM_000302.4:c.1182G>C MANE Select	NP_000293.2:p.Arg394=
NM_001316320.2:c.1323G>C	NP_001303249.1:p.Arg441=