Canonical Allele Identifier: CA337263590

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 1633473
• ClinVar RCV Id: RCV002121879
• dbSNP Id: rs201642622
• gnomAD v2: X-153135928-G-A
• gnomAD v4: X-153870473-G-A
• MyVariant Identifiers: chrX:g.153135928G>A (hg19) ; chrX:g.153870473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870473G>A , CM000685.2:g.153870473G>A	GRCh38
NC_000023.10:g.153135928G>A , CM000685.1:g.153135928G>A	GRCh37
NC_000023.9:g.152789122G>A	NCBI36
NG_009645.3:g.43751C>T
NG_009645.4:g.20701C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.721C>T MANE Select	ENSP00000359077.1:p.Arg241Cys
ENST00000361699.8:c.721C>T	ENSP00000355380.4:p.Arg241Cys
ENST00000361981.7:c.706C>T	ENSP00000354712.3:p.Arg236Cys
ENST00000370055.5:c.706C>T	ENSP00000359072.1:p.Arg236Cys
ENST00000370060.5:c.721C>T	ENSP00000359077.1:p.Arg241Cys
NM_000425.4:c.721C>T	NP_000416.1:p.Arg241Cys
NM_001143963.2:c.706C>T	NP_001137435.1:p.Arg236Cys
NM_001278116.1:c.721C>T	NP_001265045.1:p.Arg241Cys
NM_024003.3:c.721C>T	NP_076493.1:p.Arg241Cys
NM_000425.5:c.721C>T	NP_000416.1:p.Arg241Cys
NM_001278116.2:c.721C>T MANE Select	NP_001265045.1:p.Arg241Cys