Canonical Allele Identifier: CA10554306
Gene: L1CAM HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.153868067C>G
GRCh37 chrX:g.153133522C>G
Revel Score:
ENST00000370060 (MANE Select) 0.934
ENST00000543994 0.934
ENST00000370057 0.934
ENST00000538883 0.934
ENST00000361981 0.934
ENST00000370055 0.934
ENST00000361699 0.934
ENST00000455590 0.642
gnomAD v2:
X:153133522 C / G
gnomAD v3:
X:153868067 C / G
gnomAD v4:
chrX-153868067-C-G
Joint Max Group AF 0.00084342 (EAS)
Genomes Max Group AF 0.0015459 (EAS)
Exomes Max Group AF 0.0006582 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153868067C>G , CM000685.2:g.153868067C>G GRCh38
NC_000023.10:g.153133522C>G , CM000685.1:g.153133522C>G GRCh37
NC_000023.9:g.152786716C>G NCBI36
NG_009645.3:g.46157G>C
NG_009645.4:g.23107G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.1759G>C MANE Select ENSP00000359077.1:p.Gly587Arg
ENST00000361699.8:c.1759G>C ENSP00000355380.4:p.Gly587Arg
ENST00000361981.7:c.1744G>C ENSP00000354712.3:p.Gly582Arg
ENST00000370055.5:c.1744G>C ENSP00000359072.1:p.Gly582Arg
ENST00000370060.5:c.1759G>C ENSP00000359077.1:p.Gly587Arg
ENST00000455590.1:c.132G>C
ENST00000496122.1:n.378G>C
NM_000425.4:c.1759G>C NP_000416.1:p.Gly587Arg
NM_001143963.2:c.1744G>C NP_001137435.1:p.Gly582Arg
NM_001278116.1:c.1759G>C NP_001265045.1:p.Gly587Arg
NM_024003.3:c.1759G>C NP_076493.1:p.Gly587Arg
NM_000425.5:c.1759G>C NP_000416.1:p.Gly587Arg
NM_001278116.2:c.1759G>C MANE Select NP_001265045.1:p.Gly587Arg
Search 100 bp 5'
Search 100 bp 3'