Canonical Allele Identifier: CA415143345

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153875834C>T , CM000685.2:g.153875834C>T	GRCh38
NC_000023.10:g.153141289C>T , CM000685.1:g.153141289C>T	GRCh37
NC_000023.9:g.152794483C>T	NCBI36
NG_009645.3:g.38390G>A
NG_009645.4:g.15340G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001278116.2:c.3G>A MANE Select	NP_001265045.1:p.Met1Ile
ENST00000370060.7:c.3G>A MANE Select	ENSP00000359077.1:p.Met1Ile
NM_000425.4:c.3G>A	NP_000416.1:p.Met1Ile
NM_000425.5:c.3G>A	NP_000416.1:p.Met1Ile
NM_001143963.2:c.3G>A	NP_001137435.1:p.Met1Ile
NM_001278116.1:c.3G>A	NP_001265045.1:p.Met1Ile
NM_024003.3:c.3G>A	NP_076493.1:p.Met1Ile
ENST00000361699.8:c.3G>A	ENSP00000355380.4:p.Met1Ile
ENST00000361981.7:c.3G>A	ENSP00000354712.3:p.Met1Ile
ENST00000370055.5:c.3G>A	ENSP00000359072.1:p.Met1Ile
ENST00000370060.5:c.3G>A	ENSP00000359077.1:p.Met1Ile
ENST00000407935.6:c.3G>A	ENSP00000384902.2:p.Met1Ile
ENST00000420165.5:c.3G>A	ENSP00000392524.1:p.Met1Ile
ENST00000439496.5:c.3G>A	ENSP00000402407.1:p.Met1Ile
ENST00000458029.1:c.3G>A	ENSP00000396079.1:p.Met1Ile
ENST00000460553.1:n.189G>A
ENST00000464967.5:n.265G>A
ENST00000642393.1:c.98-2592G>A
ENST00000646191.1:c.208G>A