Canonical Allele Identifier: CA415135397

Gene: L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153136328T>C (hg19) ; chrX:g.153870873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870873T>C , CM000685.2:g.153870873T>C	GRCh38
NC_000023.10:g.153136328T>C , CM000685.1:g.153136328T>C	GRCh37
NC_000023.9:g.152789522T>C	NCBI36
NG_009645.3:g.43351A>G
NG_009645.4:g.20301A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.611A>G MANE Select	ENSP00000359077.1:p.His204Arg
ENST00000361699.8:c.611A>G	ENSP00000355380.4:p.His204Arg
ENST00000361981.7:c.596A>G	ENSP00000354712.3:p.His199Arg
ENST00000370055.5:c.596A>G	ENSP00000359072.1:p.His199Arg
ENST00000370060.5:c.611A>G	ENSP00000359077.1:p.His204Arg
NM_000425.4:c.611A>G	NP_000416.1:p.His204Arg
NM_001143963.2:c.596A>G	NP_001137435.1:p.His199Arg
NM_001278116.1:c.611A>G	NP_001265045.1:p.His204Arg
NM_024003.3:c.611A>G	NP_076493.1:p.His204Arg
NM_000425.5:c.611A>G	NP_000416.1:p.His204Arg
NM_001278116.2:c.611A>G MANE Select	NP_001265045.1:p.His204Arg