Canonical Allele Identifier: CA1281433
Gene: LAMC1 HGNC NCBI
COSMIC:
COSM4418924 (not active)
MyVariant.info:
GRCh38 chr1:g.183125412T>C
GRCh37 chr1:g.183094547T>C
Revel Score:
ENST00000258341 (MANE Select) 0.159
gnomAD v2:
1:183094547 T / C
gnomAD v3:
1:183125412 T / C
gnomAD v4:
chr1-183125412-T-C
Joint Max Group AF 0.65577348 (AMR)
Genomes Max Group AF 0.63148327 (SAS)
Exomes Max Group AF 0.66943992 (AMR)
ClinVar RCV:
RCV001716673
ClinVar Variation:
1290680
dbSNP:
20558
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183125412T>C , CM000663.2:g.183125412T>C GRCh38
NC_000001.10:g.183094547T>C , CM000663.1:g.183094547T>C GRCh37
NC_000001.9:g.181361170T>C NCBI36
NG_011463.1:g.106953T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258341.5:c.2663T>C MANE Select ENSP00000258341.3:p.Leu888Pro
ENST00000258341.4:c.2663T>C ENSP00000258341.3:p.Leu888Pro
ENST00000466964.1:n.225T>C
NM_002293.3:c.2663T>C NP_002284.3:p.Leu888Pro
NM_002293.4:c.2663T>C MANE Select NP_002284.3:p.Leu888Pro
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