Canonical Allele Identifier: CA1138546901

Gene: L1CAM

Linked Data

• dbSNP Id: rs2064684642
• gnomAD v3: X-153863725-C-G
• gnomAD v4: X-153863725-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863725C>G , CM000685.2:g.153863725C>G	GRCh38
NC_000023.10:g.153129180C>G , CM000685.1:g.153129180C>G	GRCh37
NC_000023.9:g.152782374C>G	NCBI36
NG_009645.3:g.50499G>C
NG_009645.4:g.27449G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.3457+158G>C MANE Select	ENSP00000359077.1:n.3457+158G>C
ENST00000361699.8:c.3457+158G>C	ENSP00000355380.4:n.3457+158G>C
ENST00000361981.7:c.3442+158G>C	ENSP00000354712.3:n.3442+158G>C
ENST00000370055.5:c.3442+158G>C	ENSP00000359072.1:n.3442+158G>C
ENST00000370058.7:c.158-176G>C	ENSP00000359075.3:n.158-176G>C
ENST00000370060.5:c.3457+158G>C	ENSP00000359077.1:n.3457+158G>C
ENST00000491983.1:n.245G>C
NM_000425.4:c.3457+158G>C	NP_000416.1:n.3457+158G>C
NM_001143963.2:c.3442+158G>C	NP_001137435.1:n.3442+158G>C
NM_001278116.1:c.3457+158G>C	NP_001265045.1:n.3457+158G>C
NM_024003.3:c.3457+158G>C	NP_076493.1:n.3457+158G>C
NM_000425.5:c.3457+158G>C	NP_000416.1:n.3457+158G>C
NM_001278116.2:c.3457+158G>C MANE Select	NP_001265045.1:n.3457+158G>C