Canonical Allele Identifier: CA254959

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 9991
• ClinVar RCV Id: RCV000010672 ; RCV001824565 ; RCV002345239 ; RCV003588560
• dbSNP Id: rs137852521
• MyVariant Identifiers: chrX:g.153136388C>T (hg19) ; chrX:g.153870933C>T (hg38)
• PubMed: PMID:7920659 ; PMID:13889294 ; PMID:18136715

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870933C>T , CM000685.2:g.153870933C>T	GRCh38
NC_000023.10:g.153136388C>T , CM000685.1:g.153136388C>T	GRCh37
NC_000023.9:g.152789582C>T	NCBI36
NG_009645.3:g.43291G>A
NG_009645.4:g.20241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.551G>A MANE Select	ENSP00000359077.1:p.Arg184Gln
ENST00000361699.8:c.551G>A	ENSP00000355380.4:p.Arg184Gln
ENST00000361981.7:c.536G>A	ENSP00000354712.3:p.Arg179Gln
ENST00000370055.5:c.536G>A	ENSP00000359072.1:p.Arg179Gln
ENST00000370060.5:c.551G>A	ENSP00000359077.1:p.Arg184Gln
NM_000425.4:c.551G>A	NP_000416.1:p.Arg184Gln
NM_001143963.2:c.536G>A	NP_001137435.1:p.Arg179Gln
NM_001278116.1:c.551G>A	NP_001265045.1:p.Arg184Gln
NM_024003.3:c.551G>A	NP_076493.1:p.Arg184Gln
NM_000425.5:c.551G>A	NP_000416.1:p.Arg184Gln
NM_001278116.2:c.551G>A MANE Select	NP_001265045.1:p.Arg184Gln