Canonical Allele Identifier: CA10554011

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153864475C>T , CM000685.2:g.153864475C>T	GRCh38
NC_000023.10:g.153129930C>T , CM000685.1:g.153129930C>T	GRCh37
NC_000023.9:g.152783124C>T	NCBI36
NG_009645.3:g.49749G>A
NG_009645.4:g.26699G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001278116.2:c.3169G>A MANE Select	NP_001265045.1:p.Glu1057Lys
ENST00000370060.7:c.3169G>A MANE Select	ENSP00000359077.1:p.Glu1057Lys
NM_000425.4:c.3169G>A	NP_000416.1:p.Glu1057Lys
NM_000425.5:c.3169G>A	NP_000416.1:p.Glu1057Lys
NM_001143963.2:c.3154G>A	NP_001137435.1:p.Glu1052Lys
NM_001278116.1:c.3169G>A	NP_001265045.1:p.Glu1057Lys
NM_024003.3:c.3169G>A	NP_076493.1:p.Glu1057Lys
ENST00000361699.8:c.3169G>A	ENSP00000355380.4:p.Glu1057Lys
ENST00000361981.7:c.3154G>A	ENSP00000354712.3:p.Glu1052Lys
ENST00000370055.5:c.3154G>A	ENSP00000359072.1:p.Glu1052Lys
ENST00000370058.7:c.4G>A	ENSP00000359075.3:p.Glu2Lys
ENST00000370060.5:c.3169G>A	ENSP00000359077.1:p.Glu1057Lys