Canonical Allele Identifier: CA1328602
Gene: LMOD1 HGNC NCBI
COSMIC:
COSM3997144 (not active)
MyVariant.info:
GRCh38 chr1:g.201900129G>A
GRCh37 chr1:g.201869257G>A
Revel Score:
ENST00000367288 (MANE Select) 0.242
ENST00000400965 0.242
ENST00000412469 0.242
gnomAD v2:
1:201869257 G / A
gnomAD v3:
1:201900129 G / A
gnomAD v4:
chr1-201900129-G-A
Joint Max Group AF 0.33361851 (NFE)
Genomes Max Group AF 0.32408688 (NFE)
Exomes Max Group AF 0.33400761 (NFE)
dbSNP:
2820312
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201900129G>A , CM000663.2:g.201900129G>A GRCh38
NC_000001.10:g.201869257G>A , CM000663.1:g.201869257G>A GRCh37
NC_000001.9:g.200135880G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367288.5:c.884C>T MANE Select ENSP00000356257.4:p.Thr295Met
ENST00000367288.4:c.884C>T ENSP00000356257.4:p.Thr295Met
ENST00000616739.1:c.591+209C>T ENSP00000480209.1:n.591+209C>T
NM_012134.2:c.884C>T NP_036266.2:p.Thr295Met
NM_012134.3:c.884C>T MANE Select NP_036266.2:p.Thr295Met
Search 100 bp 5'
Search 100 bp 3'