Canonical Allele Identifier: CA415120715

Gene: L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153132288C>G (hg19) ; chrX:g.153866833C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866833C>G , CM000685.2:g.153866833C>G	GRCh38
NC_000023.10:g.153132288C>G , CM000685.1:g.153132288C>G	GRCh37
NC_000023.9:g.152785482C>G	NCBI36
NG_009645.3:g.47391G>C
NG_009645.4:g.24341G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2247G>C MANE Select	ENSP00000359077.1:p.Gln749His
ENST00000361699.8:c.2247G>C	ENSP00000355380.4:p.Gln749His
ENST00000361981.7:c.2232G>C	ENSP00000354712.3:p.Gln744His
ENST00000370055.5:c.2232G>C	ENSP00000359072.1:p.Gln744His
ENST00000370060.5:c.2247G>C	ENSP00000359077.1:p.Gln749His
ENST00000455590.1:c.509G>C
NM_000425.4:c.2247G>C	NP_000416.1:p.Gln749His
NM_001143963.2:c.2232G>C	NP_001137435.1:p.Gln744His
NM_001278116.1:c.2247G>C	NP_001265045.1:p.Gln749His
NM_024003.3:c.2247G>C	NP_076493.1:p.Gln749His
NM_000425.5:c.2247G>C	NP_000416.1:p.Gln749His
NM_001278116.2:c.2247G>C MANE Select	NP_001265045.1:p.Gln749His