Canonical Allele Identifier: CA10554553
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 3013392
ClinVar RCV Id: RCV003870487
dbSNP Id: rs782698098
ExAC: X:153136392 C / T
gnomAD v2: X-153136392-C-T
gnomAD v3: X-153870937-C-T
gnomAD v4: X-153870937-C-T
MyVariant Identifiers: chrX:g.153136392C>T (hg19) chrX:g.153870937C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153870937C>T , CM000685.2:g.153870937C>T GRCh38
NC_000023.10:g.153136392C>T , CM000685.1:g.153136392C>T GRCh37
NC_000023.9:g.152789586C>T NCBI36
NG_009645.3:g.43287G>A
NG_009645.4:g.20237G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.547G>A MANE Select ENSP00000359077.1:p.Glu183Lys
ENST00000361699.8:c.547G>A ENSP00000355380.4:p.Glu183Lys
ENST00000361981.7:c.532G>A ENSP00000354712.3:p.Glu178Lys
ENST00000370055.5:c.532G>A ENSP00000359072.1:p.Glu178Lys
ENST00000370060.5:c.547G>A ENSP00000359077.1:p.Glu183Lys
NM_000425.4:c.547G>A NP_000416.1:p.Glu183Lys
NM_001143963.2:c.532G>A NP_001137435.1:p.Glu178Lys
NM_001278116.1:c.547G>A NP_001265045.1:p.Glu183Lys
NM_024003.3:c.547G>A NP_076493.1:p.Glu183Lys
NM_000425.5:c.547G>A NP_000416.1:p.Glu183Lys
NM_001278116.2:c.547G>A MANE Select NP_001265045.1:p.Glu183Lys
Search 100 bp 5'
Search 100 bp 3'