Canonical Allele Identifier: CA10575513

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 9999
• ClinVar RCV Id: RCV000794947 ; RCV003151719
• dbSNP Id: rs879253716
• MyVariant Identifiers: chrX:g.153133250C>T (hg19) ; chrX:g.153867795C>T (hg38)
• PubMed: PMID:15148591

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153867795C>T , CM000685.2:g.153867795C>T	GRCh38
NC_000023.10:g.153133250C>T , CM000685.1:g.153133250C>T	GRCh37
NC_000023.9:g.152786444C>T	NCBI36
NG_009645.3:g.46429G>A
NG_009645.4:g.23379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.1939+5G>A MANE Select	ENSP00000359077.1:n.1939+5G>A
ENST00000361699.8:c.1939+5G>A	ENSP00000355380.4:n.1939+5G>A
ENST00000361981.7:c.1924+5G>A	ENSP00000354712.3:n.1924+5G>A
ENST00000370055.5:c.1924+5G>A	ENSP00000359072.1:n.1924+5G>A
ENST00000370060.5:c.1939+5G>A	ENSP00000359077.1:n.1939+5G>A
ENST00000455590.1:c.201+203G>A
ENST00000496122.1:n.558+5G>A
NM_000425.4:c.1939+5G>A	NP_000416.1:n.1939+5G>A
NM_001143963.2:c.1924+5G>A	NP_001137435.1:n.1924+5G>A
NM_001278116.1:c.1939+5G>A	NP_001265045.1:n.1939+5G>A
NM_024003.3:c.1939+5G>A	NP_076493.1:n.1939+5G>A
NM_000425.5:c.1939+5G>A	NP_000416.1:n.1939+5G>A
NM_001278116.2:c.1939+5G>A MANE Select	NP_001265045.1:n.1939+5G>A