Canonical Allele Identifier: CA415135433

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870880C>T , CM000685.2:g.153870880C>T	GRCh38
NC_000023.10:g.153136335C>T , CM000685.1:g.153136335C>T	GRCh37
NC_000023.9:g.152789529C>T	NCBI36
NG_009645.3:g.43344G>A
NG_009645.4:g.20294G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001278116.2:c.604G>A MANE Select	NP_001265045.1:p.Asp202Asn
ENST00000370060.7:c.604G>A MANE Select	ENSP00000359077.1:p.Asp202Asn
NM_000425.4:c.604G>A	NP_000416.1:p.Asp202Asn
NM_000425.5:c.604G>A	NP_000416.1:p.Asp202Asn
NM_001143963.2:c.589G>A	NP_001137435.1:p.Asp197Asn
NM_001278116.1:c.604G>A	NP_001265045.1:p.Asp202Asn
NM_024003.3:c.604G>A	NP_076493.1:p.Asp202Asn
ENST00000361699.8:c.604G>A	ENSP00000355380.4:p.Asp202Asn
ENST00000361981.7:c.589G>A	ENSP00000354712.3:p.Asp197Asn
ENST00000370055.5:c.589G>A	ENSP00000359072.1:p.Asp197Asn
ENST00000370060.5:c.604G>A	ENSP00000359077.1:p.Asp202Asn