Canonical Allele Identifier: CA915952053

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 797236
• ClinVar RCV Id: RCV001408329
• dbSNP Id: rs199936251

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153871047C>A , CM000685.2:g.153871047C>A	GRCh38
NC_000023.10:g.153136502C>A , CM000685.1:g.153136502C>A	GRCh37
NC_000023.9:g.152789696C>A	NCBI36
NG_009645.3:g.43177G>T
NG_009645.4:g.20127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.523+10G>T MANE Select	ENSP00000359077.1:n.523+10G>T
ENST00000361699.8:c.523+10G>T	ENSP00000355380.4:n.523+10G>T
ENST00000361981.7:c.508+10G>T	ENSP00000354712.3:n.508+10G>T
ENST00000370055.5:c.508+10G>T	ENSP00000359072.1:n.508+10G>T
ENST00000370060.5:c.523+10G>T	ENSP00000359077.1:n.523+10G>T
NM_000425.4:c.523+10G>T	NP_000416.1:n.523+10G>T
NM_001143963.2:c.508+10G>T	NP_001137435.1:n.508+10G>T
NM_001278116.1:c.523+10G>T	NP_001265045.1:n.523+10G>T
NM_024003.3:c.523+10G>T	NP_076493.1:n.523+10G>T
NM_000425.5:c.523+10G>T	NP_000416.1:n.523+10G>T
NM_001278116.2:c.523+10G>T MANE Select	NP_001265045.1:n.523+10G>T