Canonical Allele Identifier: CA519343711

Gene: L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153132198G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866743G>T , CM000685.2:g.153866743G>T	GRCh38
NC_000023.10:g.153132198G>T , CM000685.1:g.153132198G>T	GRCh37
NC_000023.9:g.152785392G>T	NCBI36
NG_009645.3:g.47481C>A
NG_009645.4:g.24431C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2337C>A MANE Select	ENSP00000359077.1:p.Ser779=
ENST00000361699.8:c.2337C>A	ENSP00000355380.4:p.Ser779=
ENST00000361981.7:c.2322C>A	ENSP00000354712.3:p.Ser774=
ENST00000370055.5:c.2322C>A	ENSP00000359072.1:p.Ser774=
ENST00000370060.5:c.2337C>A	ENSP00000359077.1:p.Ser779=
NM_000425.4:c.2337C>A	NP_000416.1:p.Ser779=
NM_001143963.2:c.2322C>A	NP_001137435.1:p.Ser774=
NM_001278116.1:c.2337C>A	NP_001265045.1:p.Ser779=
NM_024003.3:c.2337C>A	NP_076493.1:p.Ser779=
NM_000425.5:c.2337C>A	NP_000416.1:p.Ser779=
NM_001278116.2:c.2337C>A MANE Select	NP_001265045.1:p.Ser779=