Canonical Allele Identifier: CA10575545

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 29986
• ClinVar RCV Id: RCV000022879
• dbSNP Id: rs879253724
• MyVariant Identifiers: chrX:g.153129005C>G (hg19) ; chrX:g.153863550C>G (hg38)
• PubMed: PMID:21271669

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863550C>G , CM000685.2:g.153863550C>G	GRCh38
NC_000023.10:g.153129005C>G , CM000685.1:g.153129005C>G	GRCh37
NC_000023.9:g.152782199C>G	NCBI36
NG_009645.3:g.50674G>C
NG_009645.4:g.27624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.3458-1G>C MANE Select	ENSP00000359077.1:n.3458-1G>C
ENST00000361699.8:c.3458-1G>C	ENSP00000355380.4:n.3458-1G>C
ENST00000361981.7:c.3443-1G>C	ENSP00000354712.3:n.3443-1G>C
ENST00000370055.5:c.3443-1G>C	ENSP00000359072.1:n.3443-1G>C
ENST00000370058.7:c.158-1G>C	ENSP00000359075.3:n.158-1G>C
ENST00000370060.5:c.3458-1G>C	ENSP00000359077.1:n.3458-1G>C
ENST00000491983.1:n.420G>C
NM_000425.4:c.3458-1G>C	NP_000416.1:n.3458-1G>C
NM_001143963.2:c.3443-1G>C	NP_001137435.1:n.3443-1G>C
NM_001278116.1:c.3458-1G>C	NP_001265045.1:n.3458-1G>C
NM_024003.3:c.3458-1G>C	NP_076493.1:n.3458-1G>C
NM_000425.5:c.3458-1G>C	NP_000416.1:n.3458-1G>C
NM_001278116.2:c.3458-1G>C MANE Select	NP_001265045.1:n.3458-1G>C