Canonical Allele Identifier: CA208427

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 92924
• ClinVar RCV Id: RCV000194324 ; RCV000439917 ; RCV001083170 ; RCV001847649 ; RCV002313749
• dbSNP Id: rs36021462
• ExAC: X:153132233 C / T
• gnomAD v2: X-153132233-C-T
• gnomAD v3: X-153866778-C-T
• gnomAD v4: X-153866778-C-T
• MyVariant Identifiers: chrX:g.153132233C>T (hg19) ; chrX:g.153866778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866778C>T , CM000685.2:g.153866778C>T	GRCh38
NC_000023.10:g.153132233C>T , CM000685.1:g.153132233C>T	GRCh37
NC_000023.9:g.152785427C>T	NCBI36
NG_009645.3:g.47446G>A
NG_009645.4:g.24396G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2302G>A MANE Select	ENSP00000359077.1:p.Val768Ile
ENST00000361699.8:c.2302G>A	ENSP00000355380.4:p.Val768Ile
ENST00000361981.7:c.2287G>A	ENSP00000354712.3:p.Val763Ile
ENST00000370055.5:c.2287G>A	ENSP00000359072.1:p.Val763Ile
ENST00000370060.5:c.2302G>A	ENSP00000359077.1:p.Val768Ile
ENST00000455590.1:c.564G>A
NM_000425.4:c.2302G>A	NP_000416.1:p.Val768Ile
NM_001143963.2:c.2287G>A	NP_001137435.1:p.Val763Ile
NM_001278116.1:c.2302G>A	NP_001265045.1:p.Val768Ile
NM_024003.3:c.2302G>A	NP_076493.1:p.Val768Ile
NM_000425.5:c.2302G>A	NP_000416.1:p.Val768Ile
NM_001278116.2:c.2302G>A MANE Select	NP_001265045.1:p.Val768Ile