Canonical Allele Identifier: CA16608745

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153865818G>T , CM000685.2:g.153865818G>T	GRCh38
NC_000023.10:g.153131273G>T , CM000685.1:g.153131273G>T	GRCh37
NC_000023.9:g.152784467G>T	NCBI36
NG_009645.3:g.48406C>A
NG_009645.4:g.25356C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001278116.2:c.2433C>A MANE Select	NP_001265045.1:p.Tyr811Ter
ENST00000370060.7:c.2433C>A MANE Select	ENSP00000359077.1:p.Tyr811Ter
NM_000425.4:c.2433C>A	NP_000416.1:p.Tyr811Ter
NM_000425.5:c.2433C>A	NP_000416.1:p.Tyr811Ter
NM_001143963.2:c.2418C>A	NP_001137435.1:p.Tyr806Ter
NM_001278116.1:c.2433C>A	NP_001265045.1:p.Tyr811Ter
NM_024003.3:c.2433C>A	NP_076493.1:p.Tyr811Ter
ENST00000361699.8:c.2433C>A	ENSP00000355380.4:p.Tyr811Ter
ENST00000361981.7:c.2418C>A	ENSP00000354712.3:p.Tyr806Ter
ENST00000370055.5:c.2418C>A	ENSP00000359072.1:p.Tyr806Ter
ENST00000370060.5:c.2433C>A	ENSP00000359077.1:p.Tyr811Ter
ENST00000474853.1:n.98C>A