Canonical Allele Identifier: CA415108539

Gene: L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153128954C>A (hg19) ; chrX:g.153863499C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863499C>A , CM000685.2:g.153863499C>A	GRCh38
NC_000023.10:g.153128954C>A , CM000685.1:g.153128954C>A	GRCh37
NC_000023.9:g.152782148C>A	NCBI36
NG_009645.3:g.50725G>T
NG_009645.4:g.27675G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370060.7:c.3508G>T MANE Select	ENSP00000359077.1:p.Asp1170Tyr
ENST00000361699.8:c.3508G>T	ENSP00000355380.4:p.Asp1170Tyr
ENST00000361981.7:c.3493G>T	ENSP00000354712.3:p.Asp1165Tyr
ENST00000370055.5:c.3493G>T	ENSP00000359072.1:p.Asp1165Tyr
ENST00000370058.7:c.208G>T	ENSP00000359075.3:p.Asp70Tyr
ENST00000370060.5:c.3508G>T	ENSP00000359077.1:p.Asp1170Tyr
ENST00000491983.1:n.471G>T
NM_000425.4:c.3508G>T	NP_000416.1:p.Asp1170Tyr
NM_001143963.2:c.3493G>T	NP_001137435.1:p.Asp1165Tyr
NM_001278116.1:c.3508G>T	NP_001265045.1:p.Asp1170Tyr
NM_024003.3:c.3508G>T	NP_076493.1:p.Asp1170Tyr
NM_000425.5:c.3508G>T	NP_000416.1:p.Asp1170Tyr
NM_001278116.2:c.3508G>T MANE Select	NP_001265045.1:p.Asp1170Tyr