Canonical Allele Identifier: CA337263477

Gene: L1CAM

Linked Data

• dbSNP Id: rs1033868452
• gnomAD v3: X-153870315-C-A
• gnomAD v4: X-153870315-C-A
• MyVariant Identifiers: chrX:g.153870315C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870315C>A , CM000685.2:g.153870315C>A	GRCh38
NC_000023.10:g.153135770C>A , CM000685.1:g.153135770C>A	GRCh37
NC_000023.9:g.152788964C>A	NCBI36
NG_009645.3:g.43909G>T
NG_009645.4:g.20859G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370060.7:c.806+73G>T MANE Select	ENSP00000359077.1:n.806+73G>T
ENST00000361699.8:c.806+73G>T	ENSP00000355380.4:n.806+73G>T
ENST00000361981.7:c.791+73G>T	ENSP00000354712.3:n.791+73G>T
ENST00000370055.5:c.791+73G>T	ENSP00000359072.1:n.791+73G>T
ENST00000370060.5:c.806+73G>T	ENSP00000359077.1:n.806+73G>T
NM_000425.4:c.806+73G>T	NP_000416.1:n.806+73G>T
NM_001143963.2:c.791+73G>T	NP_001137435.1:n.791+73G>T
NM_001278116.1:c.806+73G>T	NP_001265045.1:n.806+73G>T
NM_024003.3:c.806+73G>T	NP_076493.1:n.806+73G>T
NM_000425.5:c.806+73G>T	NP_000416.1:n.806+73G>T
NM_001278116.2:c.806+73G>T MANE Select	NP_001265045.1:n.806+73G>T