Canonical Allele Identifier: CA422089638

Gene: CACNA1E

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.181783768C>T , CM000663.2:g.181783768C>T	GRCh38
NC_000001.10:g.181752904C>T , CM000663.1:g.181752904C>T	GRCh37
NC_000001.9:g.180019527C>T	NCBI36
NG_050616.1:g.305458C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001205293.3:c.5454C>T MANE Select	NP_001192222.1:p.Asp1818=
ENST00000367573.7:c.5454C>T MANE Select	ENSP00000356545.2:p.Asp1818=
NM_000721.3:c.5454C>T	NP_000712.2:p.Asp1818=
NM_000721.4:c.5454C>T	NP_000712.2:p.Asp1818=
NM_001205293.1:c.5454C>T	NP_001192222.1:p.Asp1818=
NM_001205293.2:c.5454C>T	NP_001192222.1:p.Asp1818=
NM_001205294.1:c.5397C>T	NP_001192223.1:p.Asp1799=
NM_001205294.2:c.5397C>T	NP_001192223.1:p.Asp1799=
ENST00000357570.9:c.5451C>T	ENSP00000350183.6:p.Asp1817=
ENST00000358338.7:c.5397C>T	ENSP00000351101.6:p.Asp1799=
ENST00000360108.7:c.5397C>T	ENSP00000353222.3:p.Asp1799=
ENST00000367567.8:c.5454C>T	ENSP00000356539.5:p.Asp1818=
ENST00000367570.5:c.5454C>T	ENSP00000356542.1:p.Asp1818=
ENST00000367570.6:c.5454C>T	ENSP00000356542.1:p.Asp1818=
ENST00000367573.6:c.5454C>T	ENSP00000356545.2:p.Asp1818=
ENST00000621551.3:c.5454C>T	ENSP00000483914.1:p.Asp1818=
ENST00000621791.4:c.5397C>T	ENSP00000481619.1:p.Asp1799=
ENST00000644521.1:c.315C>T	ENSP00000496576.1:p.Asp105=
XM_011509971.1:c.5397C>T	XP_011508273.1:p.Asp1799=
XM_017002243.1:c.5889C>T	XP_016857732.1:p.Asp1963=
XM_017002244.1:c.5889C>T	XP_016857733.1:p.Asp1963=
XM_017002245.1:c.5877C>T	XP_016857734.1:p.Asp1959=
XM_017002246.1:c.5877C>T	XP_016857735.1:p.Asp1959=
XM_017002247.1:c.5832C>T	XP_016857736.1:p.Asp1944=
XM_017002248.1:c.5823C>T	XP_016857737.1:p.Asp1941=
XM_017002249.1:c.5889C>T	XP_016857738.1:p.Asp1963=
XM_017002250.1:c.5832C>T	XP_016857739.1:p.Asp1944=
XM_017002251.1:c.5889C>T	XP_016857740.1:p.Asp1963=