Canonical Allele Identifier: CA10554200

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 1421339
• ClinVar RCV Id: RCV001923741
• dbSNP Id: rs782331627
• ExAC: X:153132292 A / G
• gnomAD v2: X-153132292-A-G
• gnomAD v4: X-153866837-A-G
• MyVariant Identifiers: chrX:g.153132292A>G (hg19) ; chrX:g.153866837A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866837A>G , CM000685.2:g.153866837A>G	GRCh38
NC_000023.10:g.153132292A>G , CM000685.1:g.153132292A>G	GRCh37
NC_000023.9:g.152785486A>G	NCBI36
NG_009645.3:g.47387T>C
NG_009645.4:g.24337T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2243T>C MANE Select	ENSP00000359077.1:p.Val748Ala
ENST00000361699.8:c.2243T>C	ENSP00000355380.4:p.Val748Ala
ENST00000361981.7:c.2228T>C	ENSP00000354712.3:p.Val743Ala
ENST00000370055.5:c.2228T>C	ENSP00000359072.1:p.Val743Ala
ENST00000370060.5:c.2243T>C	ENSP00000359077.1:p.Val748Ala
ENST00000455590.1:c.505T>C
NM_000425.4:c.2243T>C	NP_000416.1:p.Val748Ala
NM_001143963.2:c.2228T>C	NP_001137435.1:p.Val743Ala
NM_001278116.1:c.2243T>C	NP_001265045.1:p.Val748Ala
NM_024003.3:c.2243T>C	NP_076493.1:p.Val748Ala
NM_000425.5:c.2243T>C	NP_000416.1:p.Val748Ala
NM_001278116.2:c.2243T>C MANE Select	NP_001265045.1:p.Val748Ala