Canonical Allele Identifier: CA415120212

Gene: L1CAM

Linked Data

• gnomAD v4: X-153866738-A-G
• MyVariant Identifiers: chrX:g.153132193A>G (hg19) ; chrX:g.153866738A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866738A>G , CM000685.2:g.153866738A>G	GRCh38
NC_000023.10:g.153132193A>G , CM000685.1:g.153132193A>G	GRCh37
NC_000023.9:g.152785387A>G	NCBI36
NG_009645.3:g.47486T>C
NG_009645.4:g.24436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2342T>C MANE Select	ENSP00000359077.1:p.Phe781Ser
ENST00000361699.8:c.2342T>C	ENSP00000355380.4:p.Phe781Ser
ENST00000361981.7:c.2327T>C	ENSP00000354712.3:p.Phe776Ser
ENST00000370055.5:c.2327T>C	ENSP00000359072.1:p.Phe776Ser
ENST00000370060.5:c.2342T>C	ENSP00000359077.1:p.Phe781Ser
NM_000425.4:c.2342T>C	NP_000416.1:p.Phe781Ser
NM_001143963.2:c.2327T>C	NP_001137435.1:p.Phe776Ser
NM_001278116.1:c.2342T>C	NP_001265045.1:p.Phe781Ser
NM_024003.3:c.2342T>C	NP_076493.1:p.Phe781Ser
NM_000425.5:c.2342T>C	NP_000416.1:p.Phe781Ser
NM_001278116.2:c.2342T>C MANE Select	NP_001265045.1:p.Phe781Ser