Canonical Allele Identifier: CA281010
Gene: PLOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.11974656G>A
GRCh37 chr1:g.12034713G>A
Revel Score:
ENST00000414311 0.893
ENST00000376369 0.893
ENST00000196061 (MANE Select) 0.893
gnomAD v2:
1:12034713 G / A
gnomAD v3:
1:11974656 G / A
gnomAD v4:
chr1-11974656-G-A
Joint Max Group AF 0.00005437 (AMR)
Exomes Max Group AF 0.00007285 (AMR)
ClinVar RCV:
RCV000015442
ClinVar Variation:
14366
dbSNP:
121913551
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11974656G>A , CM000663.2:g.11974656G>A GRCh38
NC_000001.10:g.12034713G>A , CM000663.1:g.12034713G>A GRCh37
NC_000001.9:g.11957300G>A NCBI36
NG_008159.1:g.44968G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.2032G>A MANE Select ENSP00000196061.4:p.Gly678Arg
ENST00000196061.4:c.2032G>A ENSP00000196061.4:p.Gly678Arg
ENST00000481933.1:n.1459G>A
ENST00000491536.5:n.384-627G>A
NM_000302.3:c.2032G>A NP_000293.2:p.Gly678Arg
NM_001316320.1:c.2173G>A NP_001303249.1:p.Gly725Arg
XM_011541594.1:c.2113G>A XP_011539896.1:p.Gly705Arg
XM_024447707.1:c.1366G>A XP_024303475.1:p.Gly456Arg
NM_000302.4:c.2032G>A MANE Select NP_000293.2:p.Gly678Arg
NM_001316320.2:c.2173G>A NP_001303249.1:p.Gly725Arg
Search 100 bp 5'
Search 100 bp 3'