Canonical Allele Identifier: CA254962
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 9995
ClinVar RCV Id: RCV000010677 RCV000255983 RCV000815545 RCV001198070
dbSNP Id: rs137852524
MyVariant Identifiers: chrX:g.153135273C>T (hg19) chrX:g.153869818C>T (hg38)
PubMed: PMID:7562969 PMID:8062435
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153869818C>T , CM000685.2:g.153869818C>T GRCh38
NC_000023.10:g.153135273C>T , CM000685.1:g.153135273C>T GRCh37
NC_000023.9:g.152788467C>T NCBI36
NG_009645.3:g.44406G>A
NG_009645.4:g.21356G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.1108G>A MANE Select ENSP00000359077.1:p.Gly370Arg
ENST00000361699.8:c.1108G>A ENSP00000355380.4:p.Gly370Arg
ENST00000361981.7:c.1093G>A ENSP00000354712.3:p.Gly365Arg
ENST00000370055.5:c.1093G>A ENSP00000359072.1:p.Gly365Arg
ENST00000370060.5:c.1108G>A ENSP00000359077.1:p.Gly370Arg
NM_000425.4:c.1108G>A NP_000416.1:p.Gly370Arg
NM_001143963.2:c.1093G>A NP_001137435.1:p.Gly365Arg
NM_001278116.1:c.1108G>A NP_001265045.1:p.Gly370Arg
NM_024003.3:c.1108G>A NP_076493.1:p.Gly370Arg
NM_000425.5:c.1108G>A NP_000416.1:p.Gly370Arg
NM_001278116.2:c.1108G>A MANE Select NP_001265045.1:p.Gly370Arg
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