Canonical Allele Identifier: CA208427
Gene: L1CAM HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.153866778C>T
GRCh37 chrX:g.153132233C>T
Revel Score:
ENST00000370060 (MANE Select) 0.081
ENST00000543994 0.081
ENST00000370057 0.081
ENST00000538883 0.081
ENST00000361981 0.081
ENST00000370055 0.081
ENST00000361699 0.081
gnomAD v2:
X:153132233 C / T
gnomAD v3:
X:153866778 C / T
gnomAD v4:
chrX-153866778-C-T
Joint Max Group AF 0.00537798 (SAS)
Genomes Max Group AF 0.00377399 (SAS)
Exomes Max Group AF 0.00536033 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153866778C>T , CM000685.2:g.153866778C>T GRCh38
NC_000023.10:g.153132233C>T , CM000685.1:g.153132233C>T GRCh37
NC_000023.9:g.152785427C>T NCBI36
NG_009645.3:g.47446G>A
NG_009645.4:g.24396G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.2302G>A MANE Select ENSP00000359077.1:p.Val768Ile
ENST00000361699.8:c.2302G>A ENSP00000355380.4:p.Val768Ile
ENST00000361981.7:c.2287G>A ENSP00000354712.3:p.Val763Ile
ENST00000370055.5:c.2287G>A ENSP00000359072.1:p.Val763Ile
ENST00000370060.5:c.2302G>A ENSP00000359077.1:p.Val768Ile
ENST00000455590.1:c.564G>A
NM_000425.4:c.2302G>A NP_000416.1:p.Val768Ile
NM_001143963.2:c.2287G>A NP_001137435.1:p.Val763Ile
NM_001278116.1:c.2302G>A NP_001265045.1:p.Val768Ile
NM_024003.3:c.2302G>A NP_076493.1:p.Val768Ile
NM_000425.5:c.2302G>A NP_000416.1:p.Val768Ile
NM_001278116.2:c.2302G>A MANE Select NP_001265045.1:p.Val768Ile
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