Canonical Allele Identifier: CA415108924

Gene: L1CAM

Linked Data

• gnomAD v4: X-153863537-T-C
• MyVariant Identifiers: chrX:g.153128992T>C (hg19) ; chrX:g.153863537T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863537T>C , CM000685.2:g.153863537T>C	GRCh38
NC_000023.10:g.153128992T>C , CM000685.1:g.153128992T>C	GRCh37
NC_000023.9:g.152782186T>C	NCBI36
NG_009645.3:g.50687A>G
NG_009645.4:g.27637A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.3470A>G MANE Select	ENSP00000359077.1:p.Glu1157Gly
ENST00000361699.8:c.3470A>G	ENSP00000355380.4:p.Glu1157Gly
ENST00000361981.7:c.3455A>G	ENSP00000354712.3:p.Glu1152Gly
ENST00000370055.5:c.3455A>G	ENSP00000359072.1:p.Glu1152Gly
ENST00000370058.7:c.170A>G	ENSP00000359075.3:p.Glu57Gly
ENST00000370060.5:c.3470A>G	ENSP00000359077.1:p.Glu1157Gly
ENST00000491983.1:n.433A>G
NM_000425.4:c.3470A>G	NP_000416.1:p.Glu1157Gly
NM_001143963.2:c.3455A>G	NP_001137435.1:p.Glu1152Gly
NM_001278116.1:c.3470A>G	NP_001265045.1:p.Glu1157Gly
NM_024003.3:c.3470A>G	NP_076493.1:p.Glu1157Gly
NM_000425.5:c.3470A>G	NP_000416.1:p.Glu1157Gly
NM_001278116.2:c.3470A>G MANE Select	NP_001265045.1:p.Glu1157Gly