Canonical Allele Identifier: CA415118331
Gene: L1CAM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153866687G>T , CM000685.2:g.153866687G>T GRCh38
NC_000023.10:g.153132142G>T , CM000685.1:g.153132142G>T GRCh37
NC_000023.9:g.152785336G>T NCBI36
NG_009645.3:g.47537C>A
NG_009645.4:g.24487C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.2393C>A MANE Select ENSP00000359077.1:p.Pro798Gln
ENST00000361699.8:c.2393C>A ENSP00000355380.4:p.Pro798Gln
ENST00000361981.7:c.2378C>A ENSP00000354712.3:p.Pro793Gln
ENST00000370055.5:c.2378C>A ENSP00000359072.1:p.Pro793Gln
ENST00000370060.5:c.2393C>A ENSP00000359077.1:p.Pro798Gln
NM_000425.4:c.2393C>A NP_000416.1:p.Pro798Gln
NM_001143963.2:c.2378C>A NP_001137435.1:p.Pro793Gln
NM_001278116.1:c.2393C>A NP_001265045.1:p.Pro798Gln
NM_024003.3:c.2393C>A NP_076493.1:p.Pro798Gln
NM_000425.5:c.2393C>A NP_000416.1:p.Pro798Gln
NM_001278116.2:c.2393C>A MANE Select NP_001265045.1:p.Pro798Gln