Canonical Allele Identifier: CA1138546823

Gene: L1CAM

Linked Data

• dbSNP Id: rs782006675
• gnomAD v3: X-153863461-T-C
• gnomAD v4: X-153863461-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863461T>C , CM000685.2:g.153863461T>C	GRCh38
NC_000023.10:g.153128916T>C , CM000685.1:g.153128916T>C	GRCh37
NC_000023.9:g.152782110T>C	NCBI36
NG_009645.3:g.50763A>G
NG_009645.4:g.27713A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370060.7:c.3530+16A>G MANE Select	ENSP00000359077.1:n.3530+16A>G
ENST00000361699.8:c.3530+16A>G	ENSP00000355380.4:n.3530+16A>G
ENST00000361981.7:c.3515+16A>G	ENSP00000354712.3:n.3515+16A>G
ENST00000370055.5:c.3515+16A>G	ENSP00000359072.1:n.3515+16A>G
ENST00000370058.7:c.230+16A>G	ENSP00000359075.3:n.230+16A>G
ENST00000370060.5:c.3530+16A>G	ENSP00000359077.1:n.3530+16A>G
ENST00000491983.1:n.493+16A>G
NM_000425.4:c.3530+16A>G	NP_000416.1:n.3530+16A>G
NM_001143963.2:c.3515+16A>G	NP_001137435.1:n.3515+16A>G
NM_001278116.1:c.3530+16A>G	NP_001265045.1:n.3530+16A>G
NM_024003.3:c.3530+16A>G	NP_076493.1:n.3530+16A>G
NM_000425.5:c.3530+16A>G	NP_000416.1:n.3530+16A>G
NM_001278116.2:c.3530+16A>G MANE Select	NP_001265045.1:n.3530+16A>G