Canonical Allele Identifier: CA10553940

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 1990562
• ClinVar RCV Id: RCV002800966
• dbSNP Id: rs781987270
• ExAC: X:153128942 C / T
• gnomAD v2: X-153128942-C-T
• gnomAD v4: X-153863487-C-T
• MyVariant Identifiers: chrX:g.153128942C>T (hg19) ; chrX:g.153863487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863487C>T , CM000685.2:g.153863487C>T	GRCh38
NC_000023.10:g.153128942C>T , CM000685.1:g.153128942C>T	GRCh37
NC_000023.9:g.152782136C>T	NCBI36
NG_009645.3:g.50737G>A
NG_009645.4:g.27687G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370060.7:c.3520G>A MANE Select	ENSP00000359077.1:p.Gly1174Ser
ENST00000361699.8:c.3520G>A	ENSP00000355380.4:p.Gly1174Ser
ENST00000361981.7:c.3505G>A	ENSP00000354712.3:p.Gly1169Ser
ENST00000370055.5:c.3505G>A	ENSP00000359072.1:p.Gly1169Ser
ENST00000370058.7:c.220G>A	ENSP00000359075.3:p.Gly74Ser
ENST00000370060.5:c.3520G>A	ENSP00000359077.1:p.Gly1174Ser
ENST00000491983.1:n.483G>A
NM_000425.4:c.3520G>A	NP_000416.1:p.Gly1174Ser
NM_001143963.2:c.3505G>A	NP_001137435.1:p.Gly1169Ser
NM_001278116.1:c.3520G>A	NP_001265045.1:p.Gly1174Ser
NM_024003.3:c.3520G>A	NP_076493.1:p.Gly1174Ser
NM_000425.5:c.3520G>A	NP_000416.1:p.Gly1174Ser
NM_001278116.2:c.3520G>A MANE Select	NP_001265045.1:p.Gly1174Ser