Canonical Allele Identifier: CA2466504807
Gene: L1CAM HGNC NCBI

Linked Data

dbSNP Id: rs2064685606

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153863790G>C , CM000685.2:g.153863790G>C GRCh38
NC_000023.10:g.153129245G>C , CM000685.1:g.153129245G>C GRCh37
NC_000023.9:g.152782439G>C NCBI36
NG_009645.3:g.50434C>G
NG_009645.4:g.27384C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.3457+93C>G MANE Select ENSP00000359077.1:n.3457+93C>G
ENST00000361699.8:c.3457+93C>G ENSP00000355380.4:n.3457+93C>G
ENST00000361981.7:c.3442+93C>G ENSP00000354712.3:n.3442+93C>G
ENST00000370055.5:c.3442+93C>G ENSP00000359072.1:n.3442+93C>G
ENST00000370058.7:c.158-241C>G ENSP00000359075.3:n.158-241C>G
ENST00000370060.5:c.3457+93C>G ENSP00000359077.1:n.3457+93C>G
ENST00000491983.1:n.180C>G
NM_000425.4:c.3457+93C>G NP_000416.1:n.3457+93C>G
NM_001143963.2:c.3442+93C>G NP_001137435.1:n.3442+93C>G
NM_001278116.1:c.3457+93C>G NP_001265045.1:n.3457+93C>G
NM_024003.3:c.3457+93C>G NP_076493.1:n.3457+93C>G
NM_000425.5:c.3457+93C>G NP_000416.1:n.3457+93C>G
NM_001278116.2:c.3457+93C>G MANE Select NP_001265045.1:n.3457+93C>G