Canonical Allele Identifier: CA2466507114
Gene: L1CAM HGNC NCBI

Linked Data

dbSNP Id: rs2064756701

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153870330C>T , CM000685.2:g.153870330C>T GRCh38
NC_000023.10:g.153135785C>T , CM000685.1:g.153135785C>T GRCh37
NC_000023.9:g.152788979C>T NCBI36
NG_009645.3:g.43894G>A
NG_009645.4:g.20844G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.806+58G>A MANE Select ENSP00000359077.1:n.806+58G>A
ENST00000361699.8:c.806+58G>A ENSP00000355380.4:n.806+58G>A
ENST00000361981.7:c.791+58G>A ENSP00000354712.3:n.791+58G>A
ENST00000370055.5:c.791+58G>A ENSP00000359072.1:n.791+58G>A
ENST00000370060.5:c.806+58G>A ENSP00000359077.1:n.806+58G>A
NM_000425.4:c.806+58G>A NP_000416.1:n.806+58G>A
NM_001143963.2:c.791+58G>A NP_001137435.1:n.791+58G>A
NM_001278116.1:c.806+58G>A NP_001265045.1:n.806+58G>A
NM_024003.3:c.806+58G>A NP_076493.1:n.806+58G>A
NM_000425.5:c.806+58G>A NP_000416.1:n.806+58G>A
NM_001278116.2:c.806+58G>A MANE Select NP_001265045.1:n.806+58G>A