Canonical Allele Identifier: CA415108430

Gene: L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153128944A>G (hg19) ; chrX:g.153863489A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863489A>G , CM000685.2:g.153863489A>G	GRCh38
NC_000023.10:g.153128944A>G , CM000685.1:g.153128944A>G	GRCh37
NC_000023.9:g.152782138A>G	NCBI36
NG_009645.3:g.50735T>C
NG_009645.4:g.27685T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370060.7:c.3518T>C MANE Select	ENSP00000359077.1:p.Phe1173Ser
ENST00000361699.8:c.3518T>C	ENSP00000355380.4:p.Phe1173Ser
ENST00000361981.7:c.3503T>C	ENSP00000354712.3:p.Phe1168Ser
ENST00000370055.5:c.3503T>C	ENSP00000359072.1:p.Phe1168Ser
ENST00000370058.7:c.218T>C	ENSP00000359075.3:p.Phe73Ser
ENST00000370060.5:c.3518T>C	ENSP00000359077.1:p.Phe1173Ser
ENST00000491983.1:n.481T>C
NM_000425.4:c.3518T>C	NP_000416.1:p.Phe1173Ser
NM_001143963.2:c.3503T>C	NP_001137435.1:p.Phe1168Ser
NM_001278116.1:c.3518T>C	NP_001265045.1:p.Phe1173Ser
NM_024003.3:c.3518T>C	NP_076493.1:p.Phe1173Ser
NM_000425.5:c.3518T>C	NP_000416.1:p.Phe1173Ser
NM_001278116.2:c.3518T>C MANE Select	NP_001265045.1:p.Phe1173Ser