Canonical Allele Identifier: CA415133206
Gene: L1CAM HGNC NCBI

Linked Data

dbSNP Id: rs1214679081

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153870437C>G , CM000685.2:g.153870437C>G GRCh38
NC_000023.10:g.153135892C>G , CM000685.1:g.153135892C>G GRCh37
NC_000023.9:g.152789086C>G NCBI36
NG_009645.3:g.43787G>C
NG_009645.4:g.20737G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.757G>C MANE Select ENSP00000359077.1:p.Val253Leu
ENST00000361699.8:c.757G>C ENSP00000355380.4:p.Val253Leu
ENST00000361981.7:c.742G>C ENSP00000354712.3:p.Val248Leu
ENST00000370055.5:c.742G>C ENSP00000359072.1:p.Val248Leu
ENST00000370060.5:c.757G>C ENSP00000359077.1:p.Val253Leu
NM_000425.4:c.757G>C NP_000416.1:p.Val253Leu
NM_001143963.2:c.742G>C NP_001137435.1:p.Val248Leu
NM_001278116.1:c.757G>C NP_001265045.1:p.Val253Leu
NM_024003.3:c.757G>C NP_076493.1:p.Val253Leu
NM_000425.5:c.757G>C NP_000416.1:p.Val253Leu
NM_001278116.2:c.757G>C MANE Select NP_001265045.1:p.Val253Leu