Canonical Allele Identifier: CA10575510
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 9985
ClinVar RCV Id: RCV000010666
dbSNP Id: rs879253713
MyVariant Identifiers: chrX:g.153131293T>G (hg19) chrX:g.153865838T>G (hg38)
PubMed: PMID:1303258
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153865838T>G , CM000685.2:g.153865838T>G GRCh38
NC_000023.10:g.153131293T>G , CM000685.1:g.153131293T>G GRCh37
NC_000023.9:g.152784487T>G NCBI36
NG_009645.3:g.48386A>C
NG_009645.4:g.25336A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.2432-19A>C MANE Select ENSP00000359077.1:n.2432-19A>C
ENST00000361699.8:c.2432-19A>C ENSP00000355380.4:n.2432-19A>C
ENST00000361981.7:c.2417-19A>C ENSP00000354712.3:n.2417-19A>C
ENST00000370055.5:c.2417-19A>C ENSP00000359072.1:n.2417-19A>C
ENST00000370060.5:c.2432-19A>C ENSP00000359077.1:n.2432-19A>C
ENST00000474853.1:n.78A>C
NM_000425.4:c.2432-19A>C NP_000416.1:n.2432-19A>C
NM_001143963.2:c.2417-19A>C NP_001137435.1:n.2417-19A>C
NM_001278116.1:c.2432-19A>C NP_001265045.1:n.2432-19A>C
NM_024003.3:c.2432-19A>C NP_076493.1:n.2432-19A>C
NM_000425.5:c.2432-19A>C NP_000416.1:n.2432-19A>C
NM_001278116.2:c.2432-19A>C MANE Select NP_001265045.1:n.2432-19A>C
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