Canonical Allele Identifier: CA415120737

Gene: L1CAM

Linked Data

• dbSNP Id: rs1294548336
• MyVariant Identifiers: chrX:g.153132293C>A (hg19) ; chrX:g.153866838C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866838C>A , CM000685.2:g.153866838C>A	GRCh38
NC_000023.10:g.153132293C>A , CM000685.1:g.153132293C>A	GRCh37
NC_000023.9:g.152785487C>A	NCBI36
NG_009645.3:g.47386G>T
NG_009645.4:g.24336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2242G>T MANE Select	ENSP00000359077.1:p.Val748Phe
ENST00000361699.8:c.2242G>T	ENSP00000355380.4:p.Val748Phe
ENST00000361981.7:c.2227G>T	ENSP00000354712.3:p.Val743Phe
ENST00000370055.5:c.2227G>T	ENSP00000359072.1:p.Val743Phe
ENST00000370060.5:c.2242G>T	ENSP00000359077.1:p.Val748Phe
ENST00000455590.1:c.504G>T
NM_000425.4:c.2242G>T	NP_000416.1:p.Val748Phe
NM_001143963.2:c.2227G>T	NP_001137435.1:p.Val743Phe
NM_001278116.1:c.2242G>T	NP_001265045.1:p.Val748Phe
NM_024003.3:c.2242G>T	NP_076493.1:p.Val748Phe
NM_000425.5:c.2242G>T	NP_000416.1:p.Val748Phe
NM_001278116.2:c.2242G>T MANE Select	NP_001265045.1:p.Val748Phe