Canonical Allele Identifier: CA10576254

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 226120
• ClinVar RCV Id: RCV000211546 ; RCV002229193
• dbSNP Id: rs875989884
• MyVariant Identifiers: chrX:g.153132155G>A (hg19) ; chrX:g.153866700G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866700G>A , CM000685.2:g.153866700G>A	GRCh38
NC_000023.10:g.153132155G>A , CM000685.1:g.153132155G>A	GRCh37
NC_000023.9:g.152785349G>A	NCBI36
NG_009645.3:g.47524C>T
NG_009645.4:g.24474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2380C>T MANE Select	ENSP00000359077.1:p.Gln794Ter
ENST00000361699.8:c.2380C>T	ENSP00000355380.4:p.Gln794Ter
ENST00000361981.7:c.2365C>T	ENSP00000354712.3:p.Gln789Ter
ENST00000370055.5:c.2365C>T	ENSP00000359072.1:p.Gln789Ter
ENST00000370060.5:c.2380C>T	ENSP00000359077.1:p.Gln794Ter
NM_000425.4:c.2380C>T	NP_000416.1:p.Gln794Ter
NM_001143963.2:c.2365C>T	NP_001137435.1:p.Gln789Ter
NM_001278116.1:c.2380C>T	NP_001265045.1:p.Gln794Ter
NM_024003.3:c.2380C>T	NP_076493.1:p.Gln794Ter
NM_000425.5:c.2380C>T	NP_000416.1:p.Gln794Ter
NM_001278116.2:c.2380C>T MANE Select	NP_001265045.1:p.Gln794Ter