Canonical Allele Identifier: CA337257391

Gene: L1CAM

Linked Data

• dbSNP Id: rs781945858
• gnomAD v3: X-153863811-G-A
• gnomAD v4: X-153863811-G-A
• MyVariant Identifiers: chrX:g.153129266G>A (hg19) ; chrX:g.153863811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863811G>A , CM000685.2:g.153863811G>A	GRCh38
NC_000023.10:g.153129266G>A , CM000685.1:g.153129266G>A	GRCh37
NC_000023.9:g.152782460G>A	NCBI36
NG_009645.3:g.50413C>T
NG_009645.4:g.27363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.3457+72C>T MANE Select	ENSP00000359077.1:n.3457+72C>T
ENST00000361699.8:c.3457+72C>T	ENSP00000355380.4:n.3457+72C>T
ENST00000361981.7:c.3442+72C>T	ENSP00000354712.3:n.3442+72C>T
ENST00000370055.5:c.3442+72C>T	ENSP00000359072.1:n.3442+72C>T
ENST00000370058.7:c.158-262C>T	ENSP00000359075.3:n.158-262C>T
ENST00000370060.5:c.3457+72C>T	ENSP00000359077.1:n.3457+72C>T
ENST00000491983.1:n.159C>T
NM_000425.4:c.3457+72C>T	NP_000416.1:n.3457+72C>T
NM_001143963.2:c.3442+72C>T	NP_001137435.1:n.3442+72C>T
NM_001278116.1:c.3457+72C>T	NP_001265045.1:n.3457+72C>T
NM_024003.3:c.3457+72C>T	NP_076493.1:n.3457+72C>T
NM_000425.5:c.3457+72C>T	NP_000416.1:n.3457+72C>T
NM_001278116.2:c.3457+72C>T MANE Select	NP_001265045.1:n.3457+72C>T