Canonical Allele Identifier: CA2466504679
Gene: L1CAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153863488G= , CM000685.2:g.153863488G= GRCh38
NC_000023.10:g.153128943G= , CM000685.1:g.153128943G= GRCh37
NC_000023.9:g.152782137G= NCBI36
NG_009645.3:g.50736C=
NG_009645.4:g.27686C=

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.3519C= MANE Select ENSP00000359077.1:p.Phe1173=
ENST00000361699.8:c.3519C= ENSP00000355380.4:p.Phe1173=
ENST00000361981.7:c.3504C= ENSP00000354712.3:p.Phe1168=
ENST00000370055.5:c.3504C= ENSP00000359072.1:p.Phe1168=
ENST00000370058.7:c.219C= ENSP00000359075.3:p.Phe73=
ENST00000370060.5:c.3519C= ENSP00000359077.1:p.Phe1173=
ENST00000491983.1:n.482C=
NM_000425.4:c.3519C= NP_000416.1:p.Phe1173=
NM_001143963.2:c.3504C= NP_001137435.1:p.Phe1168=
NM_001278116.1:c.3519C= NP_001265045.1:p.Phe1173=
NM_024003.3:c.3519C= NP_076493.1:p.Phe1173=
NM_000425.5:c.3519C= NP_000416.1:p.Phe1173=
NM_001278116.2:c.3519C= MANE Select NP_001265045.1:p.Phe1173=