Canonical Allele Identifier: CA16608779

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 392922
• ClinVar RCV Id: RCV000433806
• dbSNP Id: rs369046420
• MyVariant Identifiers: chrX:g.153132192G>C (hg19) ; chrX:g.153866737G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866737G>C , CM000685.2:g.153866737G>C	GRCh38
NC_000023.10:g.153132192G>C , CM000685.1:g.153132192G>C	GRCh37
NC_000023.9:g.152785386G>C	NCBI36
NG_009645.3:g.47487C>G
NG_009645.4:g.24437C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2343C>G MANE Select	ENSP00000359077.1:p.Phe781Leu
ENST00000361699.8:c.2343C>G	ENSP00000355380.4:p.Phe781Leu
ENST00000361981.7:c.2328C>G	ENSP00000354712.3:p.Phe776Leu
ENST00000370055.5:c.2328C>G	ENSP00000359072.1:p.Phe776Leu
ENST00000370060.5:c.2343C>G	ENSP00000359077.1:p.Phe781Leu
NM_000425.4:c.2343C>G	NP_000416.1:p.Phe781Leu
NM_001143963.2:c.2328C>G	NP_001137435.1:p.Phe776Leu
NM_001278116.1:c.2343C>G	NP_001265045.1:p.Phe781Leu
NM_024003.3:c.2343C>G	NP_076493.1:p.Phe781Leu
NM_000425.5:c.2343C>G	NP_000416.1:p.Phe781Leu
NM_001278116.2:c.2343C>G MANE Select	NP_001265045.1:p.Phe781Leu