Canonical Allele Identifier: CA16621237
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 419506
ClinVar RCV Id: RCV002526546
dbSNP Id: rs1064793920
MyVariant Identifiers: chrX:g.153135842C>G (hg19) chrX:g.153870387C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153870387C>G , CM000685.2:g.153870387C>G GRCh38
NC_000023.10:g.153135842C>G , CM000685.1:g.153135842C>G GRCh37
NC_000023.9:g.152789036C>G NCBI36
NG_009645.3:g.43837G>C
NG_009645.4:g.20787G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.806+1G>C MANE Select ENSP00000359077.1:n.806+1G>C
ENST00000361699.8:c.806+1G>C ENSP00000355380.4:n.806+1G>C
ENST00000361981.7:c.791+1G>C ENSP00000354712.3:n.791+1G>C
ENST00000370055.5:c.791+1G>C ENSP00000359072.1:n.791+1G>C
ENST00000370060.5:c.806+1G>C ENSP00000359077.1:n.806+1G>C
NM_000425.4:c.806+1G>C NP_000416.1:n.806+1G>C
NM_001143963.2:c.791+1G>C NP_001137435.1:n.791+1G>C
NM_001278116.1:c.806+1G>C NP_001265045.1:n.806+1G>C
NM_024003.3:c.806+1G>C NP_076493.1:n.806+1G>C
NM_000425.5:c.806+1G>C NP_000416.1:n.806+1G>C
NM_001278116.2:c.806+1G>C MANE Select NP_001265045.1:n.806+1G>C
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