Canonical Allele Identifier: CA2695067004

Gene: L1CAM

Linked Data

• gnomAD v4: X-153863396-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863396G>T , CM000685.2:g.153863396G>T	GRCh38
NC_000023.10:g.153128851G>T , CM000685.1:g.153128851G>T	GRCh37
NC_000023.9:g.152782045G>T	NCBI36
NG_009645.3:g.50828C>A
NG_009645.4:g.27778C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.3531-17C>A MANE Select	ENSP00000359077.1:n.3531-17C>A
ENST00000361699.8:c.3530+81C>A	ENSP00000355380.4:n.3530+81C>A
ENST00000361981.7:c.3515+81C>A	ENSP00000354712.3:n.3515+81C>A
ENST00000370055.5:c.3515+81C>A	ENSP00000359072.1:n.3515+81C>A
ENST00000370058.7:c.230+81C>A	ENSP00000359075.3:n.230+81C>A
ENST00000370060.5:c.3531-17C>A	ENSP00000359077.1:n.3531-17C>A
ENST00000491983.1:n.494-17C>A
NM_000425.4:c.3531-17C>A	NP_000416.1:n.3531-17C>A
NM_001143963.2:c.3515+81C>A	NP_001137435.1:n.3515+81C>A
NM_001278116.1:c.3531-17C>A	NP_001265045.1:n.3531-17C>A
NM_024003.3:c.3530+81C>A	NP_076493.1:n.3530+81C>A
NM_000425.5:c.3531-17C>A	NP_000416.1:n.3531-17C>A
NM_001278116.2:c.3531-17C>A MANE Select	NP_001265045.1:n.3531-17C>A