Canonical Allele Identifier: CA2695068549

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 2846921
• ClinVar RCV Id: RCV003752240
• gnomAD v4: X-153869948-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153869948G>A , CM000685.2:g.153869948G>A	GRCh38
NC_000023.10:g.153135403G>A , CM000685.1:g.153135403G>A	GRCh37
NC_000023.9:g.152788597G>A	NCBI36
NG_009645.3:g.44276C>T
NG_009645.4:g.21226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.992-14C>T MANE Select	ENSP00000359077.1:n.992-14C>T
ENST00000361699.8:c.992-14C>T	ENSP00000355380.4:n.992-14C>T
ENST00000361981.7:c.977-14C>T	ENSP00000354712.3:n.977-14C>T
ENST00000370055.5:c.977-14C>T	ENSP00000359072.1:n.977-14C>T
ENST00000370060.5:c.992-14C>T	ENSP00000359077.1:n.992-14C>T
NM_000425.4:c.992-14C>T	NP_000416.1:n.992-14C>T
NM_001143963.2:c.977-14C>T	NP_001137435.1:n.977-14C>T
NM_001278116.1:c.992-14C>T	NP_001265045.1:n.992-14C>T
NM_024003.3:c.992-14C>T	NP_076493.1:n.992-14C>T
NM_000425.5:c.992-14C>T	NP_000416.1:n.992-14C>T
NM_001278116.2:c.992-14C>T MANE Select	NP_001265045.1:n.992-14C>T