Canonical Allele Identifier: CA415132966

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 1379028
• ClinVar RCV Id: RCV001914751
• dbSNP Id: rs137852518
• MyVariant Identifiers: chrX:g.153135858C>A (hg19) ; chrX:g.153870403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870403C>A , CM000685.2:g.153870403C>A	GRCh38
NC_000023.10:g.153135858C>A , CM000685.1:g.153135858C>A	GRCh37
NC_000023.9:g.152789052C>A	NCBI36
NG_009645.3:g.43821G>T
NG_009645.4:g.20771G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370060.7:c.791G>T MANE Select	ENSP00000359077.1:p.Cys264Phe
ENST00000361699.8:c.791G>T	ENSP00000355380.4:p.Cys264Phe
ENST00000361981.7:c.776G>T	ENSP00000354712.3:p.Cys259Phe
ENST00000370055.5:c.776G>T	ENSP00000359072.1:p.Cys259Phe
ENST00000370060.5:c.791G>T	ENSP00000359077.1:p.Cys264Phe
NM_000425.4:c.791G>T	NP_000416.1:p.Cys264Phe
NM_001143963.2:c.776G>T	NP_001137435.1:p.Cys259Phe
NM_001278116.1:c.791G>T	NP_001265045.1:p.Cys264Phe
NM_024003.3:c.791G>T	NP_076493.1:p.Cys264Phe
NM_000425.5:c.791G>T	NP_000416.1:p.Cys264Phe
NM_001278116.2:c.791G>T MANE Select	NP_001265045.1:p.Cys264Phe