Canonical Allele Identifier: CA16621234
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 418278
ClinVar RCV Id: RCV000487331 RCV001262258
dbSNP Id: rs1064793163
COSMIC: COSM162078
MyVariant Identifiers: chrX:g.153134154G>A (hg19) chrX:g.153868699G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153868699G>A , CM000685.2:g.153868699G>A GRCh38
NC_000023.10:g.153134154G>A , CM000685.1:g.153134154G>A GRCh37
NC_000023.9:g.152787348G>A NCBI36
NG_009645.3:g.45525C>T
NG_009645.4:g.22475C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.1408C>T MANE Select ENSP00000359077.1:p.Gln470Ter
ENST00000361699.8:c.1408C>T ENSP00000355380.4:p.Gln470Ter
ENST00000361981.7:c.1393C>T ENSP00000354712.3:p.Gln465Ter
ENST00000370055.5:c.1393C>T ENSP00000359072.1:p.Gln465Ter
ENST00000370060.5:c.1408C>T ENSP00000359077.1:p.Gln470Ter
ENST00000484652.1:n.361C>T
NM_000425.4:c.1408C>T NP_000416.1:p.Gln470Ter
NM_001143963.2:c.1393C>T NP_001137435.1:p.Gln465Ter
NM_001278116.1:c.1408C>T NP_001265045.1:p.Gln470Ter
NM_024003.3:c.1408C>T NP_076493.1:p.Gln470Ter
NM_000425.5:c.1408C>T NP_000416.1:p.Gln470Ter
NM_001278116.2:c.1408C>T MANE Select NP_001265045.1:p.Gln470Ter
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