Canonical Allele Identifier: CA2697544838

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 2700455
• ClinVar RCV Id: RCV003589672

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870380A>T , CM000685.2:g.153870380A>T	GRCh38
NC_000023.10:g.153135835A>T , CM000685.1:g.153135835A>T	GRCh37
NC_000023.9:g.152789029A>T	NCBI36
NG_009645.3:g.43844T>A
NG_009645.4:g.20794T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.806+8T>A MANE Select	ENSP00000359077.1:n.806+8T>A
ENST00000361699.8:c.806+8T>A	ENSP00000355380.4:n.806+8T>A
ENST00000361981.7:c.791+8T>A	ENSP00000354712.3:n.791+8T>A
ENST00000370055.5:c.791+8T>A	ENSP00000359072.1:n.791+8T>A
ENST00000370060.5:c.806+8T>A	ENSP00000359077.1:n.806+8T>A
NM_000425.4:c.806+8T>A	NP_000416.1:n.806+8T>A
NM_001143963.2:c.791+8T>A	NP_001137435.1:n.791+8T>A
NM_001278116.1:c.806+8T>A	NP_001265045.1:n.806+8T>A
NM_024003.3:c.806+8T>A	NP_076493.1:n.806+8T>A
NM_000425.5:c.806+8T>A	NP_000416.1:n.806+8T>A
NM_001278116.2:c.806+8T>A MANE Select	NP_001265045.1:n.806+8T>A