Canonical Allele Identifier: CA1281087
Gene: LAMC1 HGNC NCBI
COSMIC:
COSM4417188 (not active)
MyVariant.info:
GRCh38 chr1:g.183116620A>G
GRCh37 chr1:g.183085755A>G
Revel Score:
ENST00000258341 (MANE Select) 0.065
gnomAD v2:
1:183085755 A / G
gnomAD v3:
1:183116620 A / G
gnomAD v4:
chr1-183116620-A-G
Joint Max Group AF 0.65594132 (AMR)
Genomes Max Group AF 0.6318661 (SAS)
Exomes Max Group AF 0.66954714 (AMR)
ClinVar RCV:
RCV001637607
ClinVar Variation:
1238059
dbSNP:
20563
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183116620A>G , CM000663.2:g.183116620A>G GRCh38
NC_000001.10:g.183085755A>G , CM000663.1:g.183085755A>G GRCh37
NC_000001.9:g.181352378A>G NCBI36
NG_011463.1:g.98161A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258341.5:c.1372A>G MANE Select ENSP00000258341.3:p.Ile458Val
ENST00000258341.4:c.1372A>G ENSP00000258341.3:p.Ile458Val
ENST00000479499.1:n.425A>G
NM_002293.3:c.1372A>G NP_002284.3:p.Ile458Val
NM_002293.4:c.1372A>G MANE Select NP_002284.3:p.Ile458Val
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