Canonical Allele Identifier: CA180146
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 167233
ClinVar RCV Id: RCV000153424 RCV000633108 RCV001651024 RCV001847783 RCV002415650 RCV003952748
dbSNP Id: rs143382184
ExAC: X:153132971 A / G
gnomAD v2: X-153132971-A-G
gnomAD v3: X-153867516-A-G
gnomAD v4: X-153867516-A-G
MyVariant Identifiers: chrX:g.153132971A>G (hg19) chrX:g.153867516A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153867516A>G , CM000685.2:g.153867516A>G GRCh38
NC_000023.10:g.153132971A>G , CM000685.1:g.153132971A>G GRCh37
NC_000023.9:g.152786165A>G NCBI36
NG_009645.3:g.46708T>C
NG_009645.4:g.23658T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.1977T>C MANE Select ENSP00000359077.1:p.Pro659=
ENST00000361699.8:c.1977T>C ENSP00000355380.4:p.Pro659=
ENST00000361981.7:c.1962T>C ENSP00000354712.3:p.Pro654=
ENST00000370055.5:c.1962T>C ENSP00000359072.1:p.Pro654=
ENST00000370060.5:c.1977T>C ENSP00000359077.1:p.Pro659=
ENST00000455590.1:c.239T>C
NM_000425.4:c.1977T>C NP_000416.1:p.Pro659=
NM_001143963.2:c.1962T>C NP_001137435.1:p.Pro654=
NM_001278116.1:c.1977T>C NP_001265045.1:p.Pro659=
NM_024003.3:c.1977T>C NP_076493.1:p.Pro659=
NM_000425.5:c.1977T>C NP_000416.1:p.Pro659=
NM_001278116.2:c.1977T>C MANE Select NP_001265045.1:p.Pro659=
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