Canonical Allele Identifier: CA172446

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 158794
• ClinVar RCV Id: RCV000146245 ; RCV000431818 ; RCV001847778 ; RCV002453468 ; RCV002515965
• dbSNP Id: rs149737236
• ExAC: X:153131169 C / A
• gnomAD v2: X-153131169-C-A
• gnomAD v3: X-153865714-C-A
• gnomAD v4: X-153865714-C-A
• MyVariant Identifiers: chrX:g.153131169C>A (hg19) ; chrX:g.153865714C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153865714C>A , CM000685.2:g.153865714C>A	GRCh38
NC_000023.10:g.153131169C>A , CM000685.1:g.153131169C>A	GRCh37
NC_000023.9:g.152784363C>A	NCBI36
NG_009645.3:g.48510G>T
NG_009645.4:g.25460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2537G>T MANE Select	ENSP00000359077.1:p.Arg846Leu
ENST00000361699.8:c.2537G>T	ENSP00000355380.4:p.Arg846Leu
ENST00000361981.7:c.2522G>T	ENSP00000354712.3:p.Arg841Leu
ENST00000370055.5:c.2522G>T	ENSP00000359072.1:p.Arg841Leu
ENST00000370060.5:c.2537G>T	ENSP00000359077.1:p.Arg846Leu
ENST00000474853.1:n.202G>T
NM_000425.4:c.2537G>T	NP_000416.1:p.Arg846Leu
NM_001143963.2:c.2522G>T	NP_001137435.1:p.Arg841Leu
NM_001278116.1:c.2537G>T	NP_001265045.1:p.Arg846Leu
NM_024003.3:c.2537G>T	NP_076493.1:p.Arg846Leu
NM_000425.5:c.2537G>T	NP_000416.1:p.Arg846Leu
NM_001278116.2:c.2537G>T MANE Select	NP_001265045.1:p.Arg846Leu