Canonical Allele Identifier: CA16621231
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 419337
ClinVar RCV Id: RCV000485549
dbSNP Id: rs1064793801

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153867799C>T , CM000685.2:g.153867799C>T GRCh38
NC_000023.10:g.153133254C>T , CM000685.1:g.153133254C>T GRCh37
NC_000023.9:g.152786448C>T NCBI36
NG_009645.3:g.46425G>A
NG_009645.4:g.23375G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.1939+1G>A MANE Select ENSP00000359077.1:n.1939+1G>A
ENST00000361699.8:c.1939+1G>A ENSP00000355380.4:n.1939+1G>A
ENST00000361981.7:c.1924+1G>A ENSP00000354712.3:n.1924+1G>A
ENST00000370055.5:c.1924+1G>A ENSP00000359072.1:n.1924+1G>A
ENST00000370060.5:c.1939+1G>A ENSP00000359077.1:n.1939+1G>A
ENST00000455590.1:c.201+199G>A
ENST00000496122.1:n.558+1G>A
NM_000425.4:c.1939+1G>A NP_000416.1:n.1939+1G>A
NM_001143963.2:c.1924+1G>A NP_001137435.1:n.1924+1G>A
NM_001278116.1:c.1939+1G>A NP_001265045.1:n.1939+1G>A
NM_024003.3:c.1939+1G>A NP_076493.1:n.1939+1G>A
NM_000425.5:c.1939+1G>A NP_000416.1:n.1939+1G>A
NM_001278116.2:c.1939+1G>A MANE Select NP_001265045.1:n.1939+1G>A