Canonical Allele Identifier: CA10554609

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153872167G>A , CM000685.2:g.153872167G>A	GRCh38
NC_000023.10:g.153137622G>A , CM000685.1:g.153137622G>A	GRCh37
NC_000023.9:g.152790816G>A	NCBI36
NG_009645.3:g.42057C>T
NG_009645.4:g.19007C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001278116.2:c.385C>T MANE Select	NP_001265045.1:p.Arg129Trp
ENST00000370060.7:c.385C>T MANE Select	ENSP00000359077.1:p.Arg129Trp
NM_000425.4:c.385C>T	NP_000416.1:p.Arg129Trp
NM_000425.5:c.385C>T	NP_000416.1:p.Arg129Trp
NM_001143963.2:c.370C>T	NP_001137435.1:p.Arg124Trp
NM_001278116.1:c.385C>T	NP_001265045.1:p.Arg129Trp
NM_024003.3:c.385C>T	NP_076493.1:p.Arg129Trp
ENST00000361699.8:c.385C>T	ENSP00000355380.4:p.Arg129Trp
ENST00000361981.7:c.370C>T	ENSP00000354712.3:p.Arg124Trp
ENST00000370055.5:c.370C>T	ENSP00000359072.1:p.Arg124Trp
ENST00000370060.5:c.385C>T	ENSP00000359077.1:p.Arg129Trp
ENST00000407935.6:c.370C>T	ENSP00000384902.2:p.Arg124Trp
ENST00000439496.5:c.385C>T	ENSP00000402407.1:p.Arg129Trp