Canonical Allele Identifier: CA275426

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 198728
• ClinVar RCV Id: RCV000180160 ; RCV000724594 ; RCV003407666
• dbSNP Id: rs797044787
• MyVariant Identifiers: chrX:g.153135578G>A (hg19) ; chrX:g.153870123G>A (hg38)
• PubMed: PMID:9643285 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870123G>A , CM000685.2:g.153870123G>A	GRCh38
NC_000023.10:g.153135578G>A , CM000685.1:g.153135578G>A	GRCh37
NC_000023.9:g.152788772G>A	NCBI36
NG_009645.3:g.44101C>T
NG_009645.4:g.21051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.924C>T MANE Select	ENSP00000359077.1:p.Gly308=
ENST00000361699.8:c.924C>T	ENSP00000355380.4:p.Gly308=
ENST00000361981.7:c.909C>T	ENSP00000354712.3:p.Gly303=
ENST00000370055.5:c.909C>T	ENSP00000359072.1:p.Gly303=
ENST00000370060.5:c.924C>T	ENSP00000359077.1:p.Gly308=
NM_000425.4:c.924C>T	NP_000416.1:p.Gly308=
NM_001143963.2:c.909C>T	NP_001137435.1:p.Gly303=
NM_001278116.1:c.924C>T	NP_001265045.1:p.Gly308=
NM_024003.3:c.924C>T	NP_076493.1:p.Gly308=
NM_000425.5:c.924C>T	NP_000416.1:p.Gly308=
NM_001278116.2:c.924C>T MANE Select	NP_001265045.1:p.Gly308=