Canonical Allele Identifier: CA16621236
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 418277
ClinVar RCV Id: RCV000484845 RCV002525764
dbSNP Id: rs1064793162
MyVariant Identifiers: chrX:g.153135383G>C (hg19) chrX:g.153869928G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153869928G>C , CM000685.2:g.153869928G>C GRCh38
NC_000023.10:g.153135383G>C , CM000685.1:g.153135383G>C GRCh37
NC_000023.9:g.152788577G>C NCBI36
NG_009645.3:g.44296C>G
NG_009645.4:g.21246C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.998C>G MANE Select ENSP00000359077.1:p.Pro333Arg
ENST00000361699.8:c.998C>G ENSP00000355380.4:p.Pro333Arg
ENST00000361981.7:c.983C>G ENSP00000354712.3:p.Pro328Arg
ENST00000370055.5:c.983C>G ENSP00000359072.1:p.Pro328Arg
ENST00000370060.5:c.998C>G ENSP00000359077.1:p.Pro333Arg
NM_000425.4:c.998C>G NP_000416.1:p.Pro333Arg
NM_001143963.2:c.983C>G NP_001137435.1:p.Pro328Arg
NM_001278116.1:c.998C>G NP_001265045.1:p.Pro333Arg
NM_024003.3:c.998C>G NP_076493.1:p.Pro333Arg
NM_000425.5:c.998C>G NP_000416.1:p.Pro333Arg
NM_001278116.2:c.998C>G MANE Select NP_001265045.1:p.Pro333Arg
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