Canonical Allele Identifier: CA10554195

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 588505
• ClinVar RCV Id: RCV000862520 ; RCV002314594
• dbSNP Id: rs2071643
• ExAC: X:153132261 C / T
• gnomAD v2: X-153132261-C-T
• gnomAD v3: X-153866806-C-T
• gnomAD v4: X-153866806-C-T
• MyVariant Identifiers: chrX:g.153132261C>T (hg19) ; chrX:g.153866806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866806C>T , CM000685.2:g.153866806C>T	GRCh38
NC_000023.10:g.153132261C>T , CM000685.1:g.153132261C>T	GRCh37
NC_000023.9:g.152785455C>T	NCBI36
NG_009645.3:g.47418G>A
NG_009645.4:g.24368G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2274G>A MANE Select	ENSP00000359077.1:p.Gly758=
ENST00000361699.8:c.2274G>A	ENSP00000355380.4:p.Gly758=
ENST00000361981.7:c.2259G>A	ENSP00000354712.3:p.Gly753=
ENST00000370055.5:c.2259G>A	ENSP00000359072.1:p.Gly753=
ENST00000370060.5:c.2274G>A	ENSP00000359077.1:p.Gly758=
ENST00000455590.1:c.536G>A
NM_000425.4:c.2274G>A	NP_000416.1:p.Gly758=
NM_001143963.2:c.2259G>A	NP_001137435.1:p.Gly753=
NM_001278116.1:c.2274G>A	NP_001265045.1:p.Gly758=
NM_024003.3:c.2274G>A	NP_076493.1:p.Gly758=
NM_000425.5:c.2274G>A	NP_000416.1:p.Gly758=
NM_001278116.2:c.2274G>A MANE Select	NP_001265045.1:p.Gly758=