Canonical Allele Identifier: CA527229430

Gene: CACNA1E

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.181757930C>A , CM000663.2:g.181757930C>A	GRCh38
NC_000001.10:g.181727066C>A , CM000663.1:g.181727066C>A	GRCh37
NC_000001.9:g.179993689C>A	NCBI36
NG_050616.1:g.279620C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001205293.3:c.4330-17C>A MANE Select	NP_001192222.1:n.4330-17C>A
ENST00000367573.7:c.4330-17C>A MANE Select	ENSP00000356545.2:n.4330-17C>A
NM_000721.3:c.4330-17C>A	NP_000712.2:n.4330-17C>A
NM_000721.4:c.4330-17C>A	NP_000712.2:n.4330-17C>A
NM_001205293.1:c.4330-17C>A	NP_001192222.1:n.4330-17C>A
NM_001205293.2:c.4330-17C>A	NP_001192222.1:n.4330-17C>A
NM_001205294.1:c.4273-17C>A	NP_001192223.1:n.4273-17C>A
NM_001205294.2:c.4273-17C>A	NP_001192223.1:n.4273-17C>A
ENST00000357570.9:c.4327-17C>A	ENSP00000350183.6:n.4327-17C>A
ENST00000358338.7:c.4273-17C>A	ENSP00000351101.6:n.4273-17C>A
ENST00000360108.7:c.4273-17C>A	ENSP00000353222.3:n.4273-17C>A
ENST00000367567.8:c.4330-17C>A	ENSP00000356539.5:n.4330-17C>A
ENST00000367570.5:c.4330-17C>A	ENSP00000356542.1:n.4330-17C>A
ENST00000367570.6:c.4330-17C>A	ENSP00000356542.1:n.4330-17C>A
ENST00000367573.6:c.4330-17C>A	ENSP00000356545.2:n.4330-17C>A
ENST00000621551.3:c.4330-17C>A	ENSP00000483914.1:n.4330-17C>A
ENST00000621791.4:c.4273-17C>A	ENSP00000481619.1:n.4273-17C>A
ENST00000700188.1:c.1951-17C>A	ENSP00000514851.1:n.1951-17C>A
ENST00000700189.1:n.1839-17C>A
XM_011509971.1:c.4273-17C>A	XP_011508273.1:n.4273-17C>A
XM_017002243.1:c.4765-17C>A	XP_016857732.1:n.4765-17C>A
XM_017002244.1:c.4765-17C>A	XP_016857733.1:n.4765-17C>A
XM_017002245.1:c.4753-17C>A	XP_016857734.1:n.4753-17C>A
XM_017002246.1:c.4753-17C>A	XP_016857735.1:n.4753-17C>A
XM_017002247.1:c.4708-17C>A	XP_016857736.1:n.4708-17C>A
XM_017002248.1:c.4765-17C>A	XP_016857737.1:n.4765-17C>A
XM_017002249.1:c.4765-17C>A	XP_016857738.1:n.4765-17C>A
XM_017002250.1:c.4708-17C>A	XP_016857739.1:n.4708-17C>A
XM_017002251.1:c.4765-17C>A	XP_016857740.1:n.4765-17C>A