Canonical Allele Identifier: CA16617027
Gene: CACNA1E HGNC NCBI

Linked Data

ClinVar Variation Id: 422435
ClinVar RCV Id: RCV000481733
dbSNP Id: rs1064795779

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.181511380G>A , CM000663.2:g.181511380G>A GRCh38
NC_000001.10:g.181480516G>A , CM000663.1:g.181480516G>A GRCh37
NC_000001.9:g.179747139G>A NCBI36
NG_050616.1:g.33070G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367570.6:c.382G>A ENSP00000356542.1:p.Glu128Lys
ENST00000700187.1:n.364G>A
ENST00000367573.7:c.382G>A MANE Select ENSP00000356545.2:p.Glu128Lys
ENST00000524607.6:c.817G>A ENSP00000432038.2:p.Glu273Lys
ENST00000357570.9:c.382G>A ENSP00000350183.6:p.Glu128Lys
ENST00000358338.7:c.382G>A ENSP00000351101.6:p.Glu128Lys
ENST00000360108.7:c.382G>A ENSP00000353222.3:p.Glu128Lys
ENST00000367567.8:c.382G>A ENSP00000356539.5:p.Glu128Lys
ENST00000367570.5:c.382G>A ENSP00000356542.1:p.Glu128Lys
ENST00000367573.6:c.382G>A ENSP00000356545.2:p.Glu128Lys
ENST00000524607.5:c.382G>A ENSP00000432038.1:p.Glu128Lys
ENST00000533229.1:n.816G>A
ENST00000621551.3:c.382G>A ENSP00000483914.1:p.Glu128Lys
ENST00000621791.4:c.382G>A ENSP00000481619.1:p.Glu128Lys
NM_000721.3:c.382G>A NP_000712.2:p.Glu128Lys
NM_001205293.1:c.382G>A NP_001192222.1:p.Glu128Lys
NM_001205294.1:c.382G>A NP_001192223.1:p.Glu128Lys
XM_011509971.1:c.382G>A XP_011508273.1:p.Glu128Lys
NM_001205293.2:c.382G>A NP_001192222.1:p.Glu128Lys
XM_017002243.1:c.817G>A XP_016857732.1:p.Glu273Lys
XM_017002244.1:c.817G>A XP_016857733.1:p.Glu273Lys
XM_017002245.1:c.817G>A XP_016857734.1:p.Glu273Lys
XM_017002246.1:c.817G>A XP_016857735.1:p.Glu273Lys
XM_017002247.1:c.817G>A XP_016857736.1:p.Glu273Lys
XM_017002248.1:c.817G>A XP_016857737.1:p.Glu273Lys
XM_017002249.1:c.817G>A XP_016857738.1:p.Glu273Lys
XM_017002250.1:c.817G>A XP_016857739.1:p.Glu273Lys
XM_017002251.1:c.817G>A XP_016857740.1:p.Glu273Lys
NM_001205293.3:c.382G>A MANE Select NP_001192222.1:p.Glu128Lys
NM_000721.4:c.382G>A NP_000712.2:p.Glu128Lys
NM_001205294.2:c.382G>A NP_001192223.1:p.Glu128Lys