Canonical Allele Identifier: CA1138548632

Gene: L1CAM

Linked Data

• dbSNP Id: rs2064750063
• gnomAD v3: X-153869746-C-G
• gnomAD v4: X-153869746-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153869746C>G , CM000685.2:g.153869746C>G	GRCh38
NC_000023.10:g.153135201C>G , CM000685.1:g.153135201C>G	GRCh37
NC_000023.9:g.152788395C>G	NCBI36
NG_009645.3:g.44478G>C
NG_009645.4:g.21428G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.1123+57G>C MANE Select	ENSP00000359077.1:n.1123+57G>C
ENST00000361699.8:c.1123+57G>C	ENSP00000355380.4:n.1123+57G>C
ENST00000361981.7:c.1108+57G>C	ENSP00000354712.3:n.1108+57G>C
ENST00000370055.5:c.1108+57G>C	ENSP00000359072.1:n.1108+57G>C
ENST00000370060.5:c.1123+57G>C	ENSP00000359077.1:n.1123+57G>C
NM_000425.4:c.1123+57G>C	NP_000416.1:n.1123+57G>C
NM_001143963.2:c.1108+57G>C	NP_001137435.1:n.1108+57G>C
NM_001278116.1:c.1123+57G>C	NP_001265045.1:n.1123+57G>C
NM_024003.3:c.1123+57G>C	NP_076493.1:n.1123+57G>C
NM_000425.5:c.1123+57G>C	NP_000416.1:n.1123+57G>C
NM_001278116.2:c.1123+57G>C MANE Select	NP_001265045.1:n.1123+57G>C