Canonical Allele Identifier: CA146097
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 92934
ClinVar RCV Id: RCV000078742 RCV000475340 RCV001647050 RCV002311558 RCV001847652
dbSNP Id: rs35151382
ExAC: X:153135929 C / T
gnomAD v2: X-153135929-C-T
gnomAD v3: X-153870474-C-T
gnomAD v4: X-153870474-C-T
MyVariant Identifiers: chrX:g.153135929C>T (hg19) chrX:g.153870474C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153870474C>T , CM000685.2:g.153870474C>T GRCh38
NC_000023.10:g.153135929C>T , CM000685.1:g.153135929C>T GRCh37
NC_000023.9:g.152789123C>T NCBI36
NG_009645.3:g.43750G>A
NG_009645.4:g.20700G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.720G>A MANE Select ENSP00000359077.1:p.Pro240=
ENST00000361699.8:c.720G>A ENSP00000355380.4:p.Pro240=
ENST00000361981.7:c.705G>A ENSP00000354712.3:p.Pro235=
ENST00000370055.5:c.705G>A ENSP00000359072.1:p.Pro235=
ENST00000370060.5:c.720G>A ENSP00000359077.1:p.Pro240=
NM_000425.4:c.720G>A NP_000416.1:p.Pro240=
NM_001143963.2:c.705G>A NP_001137435.1:p.Pro235=
NM_001278116.1:c.720G>A NP_001265045.1:p.Pro240=
NM_024003.3:c.720G>A NP_076493.1:p.Pro240=
NM_000425.5:c.720G>A NP_000416.1:p.Pro240=
NM_001278116.2:c.720G>A MANE Select NP_001265045.1:p.Pro240=
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