Canonical Allele Identifier: CA254955
Gene: L1CAM HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.153870854G>T
GRCh37 chrX:g.153136309G>T
Revel Score:
ENST00000370060 (MANE Select) 0.499
ENST00000543994 0.499
ENST00000370057 0.499
ENST00000538883 0.499
ENST00000361981 0.499
ENST00000540065 0.499
ENST00000370055 0.499
ENST00000361699 0.499
ClinVar RCV:
RCV000010669
ClinVar Variation:
9988
dbSNP:
28933683
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153870854G>T , CM000685.2:g.153870854G>T GRCh38
NC_000023.10:g.153136309G>T , CM000685.1:g.153136309G>T GRCh37
NC_000023.9:g.152789503G>T NCBI36
NG_009645.3:g.43370C>A
NG_009645.4:g.20320C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.630C>A MANE Select ENSP00000359077.1:p.His210Gln
ENST00000361699.8:c.630C>A ENSP00000355380.4:p.His210Gln
ENST00000361981.7:c.615C>A ENSP00000354712.3:p.His205Gln
ENST00000370055.5:c.615C>A ENSP00000359072.1:p.His205Gln
ENST00000370060.5:c.630C>A ENSP00000359077.1:p.His210Gln
NM_000425.4:c.630C>A NP_000416.1:p.His210Gln
NM_001143963.2:c.615C>A NP_001137435.1:p.His205Gln
NM_001278116.1:c.630C>A NP_001265045.1:p.His210Gln
NM_024003.3:c.630C>A NP_076493.1:p.His210Gln
NM_000425.5:c.630C>A NP_000416.1:p.His210Gln
NM_001278116.2:c.630C>A MANE Select NP_001265045.1:p.His210Gln
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