Canonical Allele Identifier: CA337257379

Gene: L1CAM

Linked Data

• dbSNP Id: rs1000422182
• gnomAD v3: X-153863804-C-G
• gnomAD v4: X-153863804-C-G
• MyVariant Identifiers: chrX:g.153863804C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863804C>G , CM000685.2:g.153863804C>G	GRCh38
NC_000023.10:g.153129259C>G , CM000685.1:g.153129259C>G	GRCh37
NC_000023.9:g.152782453C>G	NCBI36
NG_009645.3:g.50420G>C
NG_009645.4:g.27370G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.3457+79G>C MANE Select	ENSP00000359077.1:n.3457+79G>C
ENST00000361699.8:c.3457+79G>C	ENSP00000355380.4:n.3457+79G>C
ENST00000361981.7:c.3442+79G>C	ENSP00000354712.3:n.3442+79G>C
ENST00000370055.5:c.3442+79G>C	ENSP00000359072.1:n.3442+79G>C
ENST00000370058.7:c.158-255G>C	ENSP00000359075.3:n.158-255G>C
ENST00000370060.5:c.3457+79G>C	ENSP00000359077.1:n.3457+79G>C
ENST00000491983.1:n.166G>C
NM_000425.4:c.3457+79G>C	NP_000416.1:n.3457+79G>C
NM_001143963.2:c.3442+79G>C	NP_001137435.1:n.3442+79G>C
NM_001278116.1:c.3457+79G>C	NP_001265045.1:n.3457+79G>C
NM_024003.3:c.3457+79G>C	NP_076493.1:n.3457+79G>C
NM_000425.5:c.3457+79G>C	NP_000416.1:n.3457+79G>C
NM_001278116.2:c.3457+79G>C MANE Select	NP_001265045.1:n.3457+79G>C