Canonical Allele Identifier: CA344230446
Gene: LMOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201899751C>T
GRCh37 chr1:g.201868879C>T
Revel Score:
ENST00000367288 (MANE Select) 0.839
ENST00000400965 0.839
ENST00000412469 0.839
gnomAD v4:
chr1-201899751-C-T
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV001796556
ClinVar Variation:
1172757
dbSNP:
1487322841
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201899751C>T , CM000663.2:g.201899751C>T GRCh38
NC_000001.10:g.201868879C>T , CM000663.1:g.201868879C>T GRCh37
NC_000001.9:g.200135502C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367288.5:c.1262G>A MANE Select ENSP00000356257.4:p.Arg421His
ENST00000367288.4:c.1262G>A ENSP00000356257.4:p.Arg421His
ENST00000616739.1:c.592-323G>A ENSP00000480209.1:n.592-323G>A
NM_012134.2:c.1262G>A NP_036266.2:p.Arg421His
NM_012134.3:c.1262G>A MANE Select NP_036266.2:p.Arg421His
Search 100 bp 5'
Search 100 bp 3'