Canonical Allele Identifier: CA344209081
Gene: LMOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201946202C>G
GRCh37 chr1:g.201915330C>G
Revel Score:
ENST00000367288 (MANE Select) 0.085
ENST00000400965 0.085
ENST00000412469 0.085
gnomAD v4:
chr1-201946202-C-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201946202C>G , CM000663.2:g.201946202C>G GRCh38
NC_000001.10:g.201915330C>G , CM000663.1:g.201915330C>G GRCh37
NC_000001.9:g.200181953C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367288.5:c.139G>C MANE Select ENSP00000356257.4:p.Val47Leu
ENST00000367288.4:c.139G>C ENSP00000356257.4:p.Val47Leu
ENST00000616739.1:c.55G>C ENSP00000480209.1:p.Val19Leu
NM_012134.2:c.139G>C NP_036266.2:p.Val47Leu
NM_012134.3:c.139G>C MANE Select NP_036266.2:p.Val47Leu
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