Canonical Allele Identifier: CA254958
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 9990
ClinVar RCV Id: RCV000010671 RCV000254986 RCV000503947 RCV000685761 RCV001553633
dbSNP Id: rs137852520
MyVariant Identifiers: chrX:g.153134321C>T (hg19) chrX:g.153868866C>T (hg38)
PubMed: PMID:7920659
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153868866C>T , CM000685.2:g.153868866C>T GRCh38
NC_000023.10:g.153134321C>T , CM000685.1:g.153134321C>T GRCh37
NC_000023.9:g.152787515C>T NCBI36
NG_009645.3:g.45358G>A
NG_009645.4:g.22308G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.1354G>A MANE Select ENSP00000359077.1:p.Gly452Arg
ENST00000361699.8:c.1354G>A ENSP00000355380.4:p.Gly452Arg
ENST00000361981.7:c.1339G>A ENSP00000354712.3:p.Gly447Arg
ENST00000370055.5:c.1339G>A ENSP00000359072.1:p.Gly447Arg
ENST00000370060.5:c.1354G>A ENSP00000359077.1:p.Gly452Arg
ENST00000484652.1:n.307G>A
NM_000425.4:c.1354G>A NP_000416.1:p.Gly452Arg
NM_001143963.2:c.1339G>A NP_001137435.1:p.Gly447Arg
NM_001278116.1:c.1354G>A NP_001265045.1:p.Gly452Arg
NM_024003.3:c.1354G>A NP_076493.1:p.Gly452Arg
NM_000425.5:c.1354G>A NP_000416.1:p.Gly452Arg
NM_001278116.2:c.1354G>A MANE Select NP_001265045.1:p.Gly452Arg
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