Canonical Allele Identifier: CA254954
Gene: L1CAM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9986
ClinVar RCV Id: RCV000010667
dbSNP Id: rs137852518

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153870403C>T , CM000685.2:g.153870403C>T GRCh38
NC_000023.10:g.153135858C>T , CM000685.1:g.153135858C>T GRCh37
NC_000023.9:g.152789052C>T NCBI36
NG_009645.3:g.43821G>A

Transcript Alleles

HGVS Amino-acid change
NM_000425.4:c.791G>A VV NP_000416.1:p.Cys264Tyr
NM_001143963.2:c.776G>A VV NP_001137435.1:p.Cys259Tyr
NM_001278116.1:c.791G>A VV NP_001265045.1:p.Cys264Tyr
NM_024003.3:c.791G>A VV NP_076493.1:p.Cys264Tyr
ENST00000361699.8:c.791G>A ENSP00000355380.4:p.Cys264Tyr
ENST00000361981.7:c.776G>A ENSP00000354712.3:p.Cys259Tyr
ENST00000370055.5:c.776G>A ENSP00000359072.1:p.Cys259Tyr
ENST00000370060.5:c.791G>A ENSP00000359077.1:p.Cys264Tyr