Canonical Allele Identifier: CA338425742
Gene: PLOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.11948035C>A
GRCh37 chr1:g.12008092C>A
Revel Score:
ENST00000449038 0.184
ENST00000414311 0.184
ENST00000358133 0.184
ENST00000376369 0.184
ENST00000429000 0.184
ENST00000196061 (MANE Select) 0.184
gnomAD v3:
1:11948035 C / A
gnomAD v4:
chr1-11948035-C-A
Joint Max Group AF 0.00001327 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11948035C>A , CM000663.2:g.11948035C>A GRCh38
NC_000001.10:g.12008092C>A , CM000663.1:g.12008092C>A GRCh37
NC_000001.9:g.11930679C>A NCBI36
NG_008159.1:g.18347C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.136C>A MANE Select ENSP00000196061.4:p.Arg46Ser
ENST00000196061.4:c.136C>A ENSP00000196061.4:p.Arg46Ser
ENST00000358133.5:n.182C>A
ENST00000429000.6:c.136C>A ENSP00000405372.1:p.Arg46Ser
ENST00000449038.5:c.277C>A ENSP00000414443.1:p.Arg93Ser
ENST00000485046.5:n.179C>A
NM_000302.3:c.136C>A NP_000293.2:p.Arg46Ser
NM_001316320.1:c.277C>A NP_001303249.1:p.Arg93Ser
XM_011541594.1:c.217C>A XP_011539896.1:p.Arg73Ser
XM_024447707.1:c.-531C>A XP_024303475.1:n.-531C>A
NM_000302.4:c.136C>A MANE Select NP_000293.2:p.Arg46Ser
NM_001316320.2:c.277C>A NP_001303249.1:p.Arg93Ser
Search 100 bp 5'
Search 100 bp 3'