Canonical Allele Identifier: CA415130494

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 1030784
• ClinVar RCV Id: RCV001332431 ; RCV002546562
• dbSNP Id: rs2064751060
• gnomAD v4: X-153869826-C-T
• MyVariant Identifiers: chrX:g.153135281C>T (hg19) ; chrX:g.153869826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153869826C>T , CM000685.2:g.153869826C>T	GRCh38
NC_000023.10:g.153135281C>T , CM000685.1:g.153135281C>T	GRCh37
NC_000023.9:g.152788475C>T	NCBI36
NG_009645.3:g.44398G>A
NG_009645.4:g.21348G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.1100G>A MANE Select	ENSP00000359077.1:p.Arg367Lys
ENST00000361699.8:c.1100G>A	ENSP00000355380.4:p.Arg367Lys
ENST00000361981.7:c.1085G>A	ENSP00000354712.3:p.Arg362Lys
ENST00000370055.5:c.1085G>A	ENSP00000359072.1:p.Arg362Lys
ENST00000370060.5:c.1100G>A	ENSP00000359077.1:p.Arg367Lys
NM_000425.4:c.1100G>A	NP_000416.1:p.Arg367Lys
NM_001143963.2:c.1085G>A	NP_001137435.1:p.Arg362Lys
NM_001278116.1:c.1100G>A	NP_001265045.1:p.Arg367Lys
NM_024003.3:c.1100G>A	NP_076493.1:p.Arg367Lys
NM_000425.5:c.1100G>A	NP_000416.1:p.Arg367Lys
NM_001278116.2:c.1100G>A MANE Select	NP_001265045.1:p.Arg367Lys