Canonical Allele Identifier: CA10554492

Gene: L1CAM

Linked Data

• dbSNP Id: rs782750386
• ExAC: X:153135792 G / C
• gnomAD v2: X-153135792-G-C
• gnomAD v3: X-153870337-G-C
• gnomAD v4: X-153870337-G-C
• MyVariant Identifiers: chrX:g.153135792G>C (hg19) ; chrX:g.153870337G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870337G>C , CM000685.2:g.153870337G>C	GRCh38
NC_000023.10:g.153135792G>C , CM000685.1:g.153135792G>C	GRCh37
NC_000023.9:g.152788986G>C	NCBI36
NG_009645.3:g.43887C>G
NG_009645.4:g.20837C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370060.7:c.806+51C>G MANE Select	ENSP00000359077.1:n.806+51C>G
ENST00000361699.8:c.806+51C>G	ENSP00000355380.4:n.806+51C>G
ENST00000361981.7:c.791+51C>G	ENSP00000354712.3:n.791+51C>G
ENST00000370055.5:c.791+51C>G	ENSP00000359072.1:n.791+51C>G
ENST00000370060.5:c.806+51C>G	ENSP00000359077.1:n.806+51C>G
NM_000425.4:c.806+51C>G	NP_000416.1:n.806+51C>G
NM_001143963.2:c.791+51C>G	NP_001137435.1:n.791+51C>G
NM_001278116.1:c.806+51C>G	NP_001265045.1:n.806+51C>G
NM_024003.3:c.806+51C>G	NP_076493.1:n.806+51C>G
NM_000425.5:c.806+51C>G	NP_000416.1:n.806+51C>G
NM_001278116.2:c.806+51C>G MANE Select	NP_001265045.1:n.806+51C>G