Canonical Allele Identifier: CA873291801
Community Standard Title: NM_001278116.2(L1CAM):c.401-7C>G
Gene: L1CAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153871186G>C , CM000685.2:g.153871186G>C GRCh38
NC_000023.10:g.153136641G>C , CM000685.1:g.153136641G>C GRCh37
NC_000023.9:g.152789835G>C NCBI36
NG_009645.3:g.43038C>G
NG_009645.4:g.19988C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001278116.2:c.401-7C>G MANE Select NP_001265045.1:n.401-7C>G
ENST00000370060.7:c.401-7C>G MANE Select ENSP00000359077.1:n.401-7C>G
NM_000425.4:c.401-7C>G NP_000416.1:n.401-7C>G
NM_000425.5:c.401-7C>G NP_000416.1:n.401-7C>G
NM_001143963.2:c.386-7C>G NP_001137435.1:n.386-7C>G
NM_001278116.1:c.401-7C>G NP_001265045.1:n.401-7C>G
NM_024003.3:c.401-7C>G NP_076493.1:n.401-7C>G
ENST00000361699.8:c.401-7C>G ENSP00000355380.4:n.401-7C>G
ENST00000361981.7:c.386-7C>G ENSP00000354712.3:n.386-7C>G
ENST00000370055.5:c.386-7C>G ENSP00000359072.1:n.386-7C>G
ENST00000370060.5:c.401-7C>G ENSP00000359077.1:n.401-7C>G
ENST00000439496.5:c.401-7C>G ENSP00000402407.1:n.401-7C>G