Canonical Allele Identifier: CA519199591

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 2717492
• ClinVar RCV Id: RCV003590684
• dbSNP Id: rs1316389838
• gnomAD v4: X-153863485-G-C
• MyVariant Identifiers: chrX:g.153128940G>C (hg19) ; chrX:g.153863485G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863485G>C , CM000685.2:g.153863485G>C	GRCh38
NC_000023.10:g.153128940G>C , CM000685.1:g.153128940G>C	GRCh37
NC_000023.9:g.152782134G>C	NCBI36
NG_009645.3:g.50739C>G
NG_009645.4:g.27689C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370060.7:c.3522C>G MANE Select	ENSP00000359077.1:p.Gly1174=
ENST00000361699.8:c.3522C>G	ENSP00000355380.4:p.Gly1174=
ENST00000361981.7:c.3507C>G	ENSP00000354712.3:p.Gly1169=
ENST00000370055.5:c.3507C>G	ENSP00000359072.1:p.Gly1169=
ENST00000370058.7:c.222C>G	ENSP00000359075.3:p.Gly74=
ENST00000370060.5:c.3522C>G	ENSP00000359077.1:p.Gly1174=
ENST00000491983.1:n.485C>G
NM_000425.4:c.3522C>G	NP_000416.1:p.Gly1174=
NM_001143963.2:c.3507C>G	NP_001137435.1:p.Gly1169=
NM_001278116.1:c.3522C>G	NP_001265045.1:p.Gly1174=
NM_024003.3:c.3522C>G	NP_076493.1:p.Gly1174=
NM_000425.5:c.3522C>G	NP_000416.1:p.Gly1174=
NM_001278116.2:c.3522C>G MANE Select	NP_001265045.1:p.Gly1174=