Canonical Allele Identifier: CA120882

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 10001
• ClinVar RCV Id: RCV003588562
• dbSNP Id: rs137852526
• MyVariant Identifiers: chrX:g.153135930G>A (hg19) ; chrX:g.153870475G>A (hg38)
• PubMed: PMID:8929944 ; PMID:16650080

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870475G>A , CM000685.2:g.153870475G>A	GRCh38
NC_000023.10:g.153135930G>A , CM000685.1:g.153135930G>A	GRCh37
NC_000023.9:g.152789124G>A	NCBI36
NG_009645.3:g.43749C>T
NG_009645.4:g.20699C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370060.7:c.719C>T MANE Select	ENSP00000359077.1:p.Pro240Leu
ENST00000361699.8:c.719C>T	ENSP00000355380.4:p.Pro240Leu
ENST00000361981.7:c.704C>T	ENSP00000354712.3:p.Pro235Leu
ENST00000370055.5:c.704C>T	ENSP00000359072.1:p.Pro235Leu
ENST00000370060.5:c.719C>T	ENSP00000359077.1:p.Pro240Leu
NM_000425.4:c.719C>T	NP_000416.1:p.Pro240Leu
NM_001143963.2:c.704C>T	NP_001137435.1:p.Pro235Leu
NM_001278116.1:c.719C>T	NP_001265045.1:p.Pro240Leu
NM_024003.3:c.719C>T	NP_076493.1:p.Pro240Leu
NM_000425.5:c.719C>T	NP_000416.1:p.Pro240Leu
NM_001278116.2:c.719C>T MANE Select	NP_001265045.1:p.Pro240Leu