Canonical Allele Identifier: CA254961
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 9994
ClinVar RCV Id: RCV000010676
dbSNP Id: rs137852523
MyVariant Identifiers: chrX:g.153136403A>C (hg19) chrX:g.153870948A>C (hg38)
PubMed: PMID:1870106 PMID:7562969
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153870948A>C , CM000685.2:g.153870948A>C GRCh38
NC_000023.10:g.153136403A>C , CM000685.1:g.153136403A>C GRCh37
NC_000023.9:g.152789597A>C NCBI36
NG_009645.3:g.43276T>G
NG_009645.4:g.20226T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.536T>G MANE Select ENSP00000359077.1:p.Ile179Ser
ENST00000361699.8:c.536T>G ENSP00000355380.4:p.Ile179Ser
ENST00000361981.7:c.521T>G ENSP00000354712.3:p.Ile174Ser
ENST00000370055.5:c.521T>G ENSP00000359072.1:p.Ile174Ser
ENST00000370060.5:c.536T>G ENSP00000359077.1:p.Ile179Ser
NM_000425.4:c.536T>G NP_000416.1:p.Ile179Ser
NM_001143963.2:c.521T>G NP_001137435.1:p.Ile174Ser
NM_001278116.1:c.536T>G NP_001265045.1:p.Ile179Ser
NM_024003.3:c.536T>G NP_076493.1:p.Ile179Ser
NM_000425.5:c.536T>G NP_000416.1:p.Ile179Ser
NM_001278116.2:c.536T>G MANE Select NP_001265045.1:p.Ile179Ser
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