Canonical Allele Identifier: CA598393
Gene: PLOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.11964778G>A
GRCh37 chr1:g.12024835G>A
Revel Score:
ENST00000376369 0.768
ENST00000196061 (MANE Select) 0.768
gnomAD v2:
1:12024835 G / A
gnomAD v3:
1:11964778 G / A
gnomAD v4:
chr1-11964778-G-A
Joint Max Group AF 0.00001773 (EAS)
Genomes Max Group AF 0.00000797 (AFR)
Exomes Max Group AF 0.00000835 (EAS)
ClinVar RCV:
RCV002932655
RCV004066963
ClinVar Variation:
2052333
dbSNP:
775776634
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11964778G>A , CM000663.2:g.11964778G>A GRCh38
NC_000001.10:g.12024835G>A , CM000663.1:g.12024835G>A GRCh37
NC_000001.9:g.11947422G>A NCBI36
NG_008159.1:g.35090G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1463G>A MANE Select ENSP00000196061.4:p.Arg488Gln
ENST00000196061.4:c.1463G>A ENSP00000196061.4:p.Arg488Gln
ENST00000470133.1:n.77G>A
ENST00000491536.5:n.91G>A
NM_000302.3:c.1463G>A NP_000293.2:p.Arg488Gln
NM_001316320.1:c.1604G>A NP_001303249.1:p.Arg535Gln
XM_011541594.1:c.1544G>A XP_011539896.1:p.Arg515Gln
XM_024447707.1:c.797G>A XP_024303475.1:p.Arg266Gln
NM_000302.4:c.1463G>A MANE Select NP_000293.2:p.Arg488Gln
NM_001316320.2:c.1604G>A NP_001303249.1:p.Arg535Gln
Search 100 bp 5'
Search 100 bp 3'