Canonical Allele Identifier: CA2739130569
Gene: L1CAM HGNC NCBI

Linked Data

dbSNP Id: rs2064683538

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153863613T>G , CM000685.2:g.153863613T>G GRCh38
NC_000023.10:g.153129068T>G , CM000685.1:g.153129068T>G GRCh37
NC_000023.9:g.152782262T>G NCBI36
NG_009645.3:g.50611A>C
NG_009645.4:g.27561A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.3458-64A>C MANE Select ENSP00000359077.1:n.3458-64A>C
ENST00000361699.8:c.3458-64A>C ENSP00000355380.4:n.3458-64A>C
ENST00000361981.7:c.3443-64A>C ENSP00000354712.3:n.3443-64A>C
ENST00000370055.5:c.3443-64A>C ENSP00000359072.1:n.3443-64A>C
ENST00000370058.7:c.158-64A>C ENSP00000359075.3:n.158-64A>C
ENST00000370060.5:c.3458-64A>C ENSP00000359077.1:n.3458-64A>C
ENST00000491983.1:n.357A>C
NM_000425.4:c.3458-64A>C NP_000416.1:n.3458-64A>C
NM_001143963.2:c.3443-64A>C NP_001137435.1:n.3443-64A>C
NM_001278116.1:c.3458-64A>C NP_001265045.1:n.3458-64A>C
NM_024003.3:c.3458-64A>C NP_076493.1:n.3458-64A>C
NM_000425.5:c.3458-64A>C NP_000416.1:n.3458-64A>C
NM_001278116.2:c.3458-64A>C MANE Select NP_001265045.1:n.3458-64A>C