Canonical Allele Identifier: CA519344283

Gene: L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153136360G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870905G>C , CM000685.2:g.153870905G>C	GRCh38
NC_000023.10:g.153136360G>C , CM000685.1:g.153136360G>C	GRCh37
NC_000023.9:g.152789554G>C	NCBI36
NG_009645.3:g.43319C>G
NG_009645.4:g.20269C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.579C>G MANE Select	ENSP00000359077.1:p.Leu193=
ENST00000361699.8:c.579C>G	ENSP00000355380.4:p.Leu193=
ENST00000361981.7:c.564C>G	ENSP00000354712.3:p.Leu188=
ENST00000370055.5:c.564C>G	ENSP00000359072.1:p.Leu188=
ENST00000370060.5:c.579C>G	ENSP00000359077.1:p.Leu193=
NM_000425.4:c.579C>G	NP_000416.1:p.Leu193=
NM_001143963.2:c.564C>G	NP_001137435.1:p.Leu188=
NM_001278116.1:c.579C>G	NP_001265045.1:p.Leu193=
NM_024003.3:c.579C>G	NP_076493.1:p.Leu193=
NM_000425.5:c.579C>G	NP_000416.1:p.Leu193=
NM_001278116.2:c.579C>G MANE Select	NP_001265045.1:p.Leu193=