Canonical Allele Identifier: CA415120754

Gene: L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153132295T>G (hg19) ; chrX:g.153866840T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866840T>G , CM000685.2:g.153866840T>G	GRCh38
NC_000023.10:g.153132295T>G , CM000685.1:g.153132295T>G	GRCh37
NC_000023.9:g.152785489T>G	NCBI36
NG_009645.3:g.47384A>C
NG_009645.4:g.24334A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2240A>C MANE Select	ENSP00000359077.1:p.Gln747Pro
ENST00000361699.8:c.2240A>C	ENSP00000355380.4:p.Gln747Pro
ENST00000361981.7:c.2225A>C	ENSP00000354712.3:p.Gln742Pro
ENST00000370055.5:c.2225A>C	ENSP00000359072.1:p.Gln742Pro
ENST00000370060.5:c.2240A>C	ENSP00000359077.1:p.Gln747Pro
ENST00000455590.1:c.502A>C
NM_000425.4:c.2240A>C	NP_000416.1:p.Gln747Pro
NM_001143963.2:c.2225A>C	NP_001137435.1:p.Gln742Pro
NM_001278116.1:c.2240A>C	NP_001265045.1:p.Gln747Pro
NM_024003.3:c.2240A>C	NP_076493.1:p.Gln747Pro
NM_000425.5:c.2240A>C	NP_000416.1:p.Gln747Pro
NM_001278116.2:c.2240A>C MANE Select	NP_001265045.1:p.Gln747Pro