Canonical Allele Identifier: CA10554306

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 435686
• ClinVar RCV Id: RCV000500394 ; RCV001517300 ; RCV001848871 ; RCV002413377
• dbSNP Id: rs199888009
• ExAC: X:153133522 C / G
• gnomAD v2: X-153133522-C-G
• gnomAD v3: X-153868067-C-G
• gnomAD v4: X-153868067-C-G
• MyVariant Identifiers: chrX:g.153133522C>G (hg19) ; chrX:g.153868067C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153868067C>G , CM000685.2:g.153868067C>G	GRCh38
NC_000023.10:g.153133522C>G , CM000685.1:g.153133522C>G	GRCh37
NC_000023.9:g.152786716C>G	NCBI36
NG_009645.3:g.46157G>C
NG_009645.4:g.23107G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.1759G>C MANE Select	ENSP00000359077.1:p.Gly587Arg
ENST00000361699.8:c.1759G>C	ENSP00000355380.4:p.Gly587Arg
ENST00000361981.7:c.1744G>C	ENSP00000354712.3:p.Gly582Arg
ENST00000370055.5:c.1744G>C	ENSP00000359072.1:p.Gly582Arg
ENST00000370060.5:c.1759G>C	ENSP00000359077.1:p.Gly587Arg
ENST00000455590.1:c.132G>C
ENST00000496122.1:n.378G>C
NM_000425.4:c.1759G>C	NP_000416.1:p.Gly587Arg
NM_001143963.2:c.1744G>C	NP_001137435.1:p.Gly582Arg
NM_001278116.1:c.1759G>C	NP_001265045.1:p.Gly587Arg
NM_024003.3:c.1759G>C	NP_076493.1:p.Gly587Arg
NM_000425.5:c.1759G>C	NP_000416.1:p.Gly587Arg
NM_001278116.2:c.1759G>C MANE Select	NP_001265045.1:p.Gly587Arg