Canonical Allele Identifier: CA10581409
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 235709
ClinVar RCV Id: RCV000224561
dbSNP Id: rs878853099

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153869936T>C , CM000685.2:g.153869936T>C GRCh38
NC_000023.10:g.153135391T>C , CM000685.1:g.153135391T>C GRCh37
NC_000023.9:g.152788585T>C NCBI36
NG_009645.3:g.44288A>G
NG_009645.4:g.21238A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.992-2A>G MANE Select ENSP00000359077.1:n.992-2A>G
ENST00000361699.8:c.992-2A>G ENSP00000355380.4:n.992-2A>G
ENST00000361981.7:c.977-2A>G ENSP00000354712.3:n.977-2A>G
ENST00000370055.5:c.977-2A>G ENSP00000359072.1:n.977-2A>G
ENST00000370060.5:c.992-2A>G ENSP00000359077.1:n.992-2A>G
NM_000425.4:c.992-2A>G NP_000416.1:n.992-2A>G
NM_001143963.2:c.977-2A>G NP_001137435.1:n.977-2A>G
NM_001278116.1:c.992-2A>G NP_001265045.1:n.992-2A>G
NM_024003.3:c.992-2A>G NP_076493.1:n.992-2A>G
NM_000425.5:c.992-2A>G NP_000416.1:n.992-2A>G
NM_001278116.2:c.992-2A>G MANE Select NP_001265045.1:n.992-2A>G