Canonical Allele Identifier: CA1328753
Gene: LMOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201946202C>A
GRCh37 chr1:g.201915330C>A
Revel Score:
ENST00000367288 (MANE Select) 0.060
ENST00000400965 0.060
ENST00000412469 0.060
gnomAD v2:
1:201915330 C / A
gnomAD v3:
1:201946202 C / A
gnomAD v4:
chr1-201946202-C-A
Joint Max Group AF 0.00804044 (MID)
Genomes Max Group AF 0.00091469 (NFE)
Exomes Max Group AF 0.00829537 (MID)
ClinVar Allele:
732000
ClinVar RCV:
RCV000895188
RCV001729739
ClinVar Variation:
721653
dbSNP:
200871425
JSON-LD

Genomic Alleles

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

Transcript Alleles

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