Canonical Allele Identifier: CA2579732993
Gene: L1CAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153870337G>T , CM000685.2:g.153870337G>T GRCh38
NC_000023.10:g.153135792G>T , CM000685.1:g.153135792G>T GRCh37
NC_000023.9:g.152788986G>T NCBI36
NG_009645.3:g.43887C>A
NG_009645.4:g.20837C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.806+51C>A MANE Select ENSP00000359077.1:n.806+51C>A
ENST00000361699.8:c.806+51C>A ENSP00000355380.4:n.806+51C>A
ENST00000361981.7:c.791+51C>A ENSP00000354712.3:n.791+51C>A
ENST00000370055.5:c.791+51C>A ENSP00000359072.1:n.791+51C>A
ENST00000370060.5:c.806+51C>A ENSP00000359077.1:n.806+51C>A
NM_000425.4:c.806+51C>A NP_000416.1:n.806+51C>A
NM_001143963.2:c.791+51C>A NP_001137435.1:n.791+51C>A
NM_001278116.1:c.806+51C>A NP_001265045.1:n.806+51C>A
NM_024003.3:c.806+51C>A NP_076493.1:n.806+51C>A
NM_000425.5:c.806+51C>A NP_000416.1:n.806+51C>A
NM_001278116.2:c.806+51C>A MANE Select NP_001265045.1:n.806+51C>A