Canonical Allele Identifier: CA343624511

Gene: CACNA1E

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.181757085G>C , CM000663.2:g.181757085G>C	GRCh38
NC_000001.10:g.181726221G>C , CM000663.1:g.181726221G>C	GRCh37
NC_000001.9:g.179992844G>C	NCBI36
NG_050616.1:g.278775G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367570.6:c.4288G>C	ENSP00000356542.1:p.Gly1430Arg
ENST00000700188.1:c.1909G>C	ENSP00000514851.1:p.Gly637Arg
ENST00000700189.1:n.1797G>C
ENST00000367573.7:c.4288G>C MANE Select	ENSP00000356545.2:p.Gly1430Arg
ENST00000357570.9:c.4285G>C	ENSP00000350183.6:p.Gly1429Arg
ENST00000358338.7:c.4231G>C	ENSP00000351101.6:p.Gly1411Arg
ENST00000360108.7:c.4231G>C	ENSP00000353222.3:p.Gly1411Arg
ENST00000367567.8:c.4288G>C	ENSP00000356539.5:p.Gly1430Arg
ENST00000367570.5:c.4288G>C	ENSP00000356542.1:p.Gly1430Arg
ENST00000367573.6:c.4288G>C	ENSP00000356545.2:p.Gly1430Arg
ENST00000621551.3:c.4288G>C	ENSP00000483914.1:p.Gly1430Arg
ENST00000621791.4:c.4231G>C	ENSP00000481619.1:p.Gly1411Arg
NM_000721.3:c.4288G>C	NP_000712.2:p.Gly1430Arg
NM_001205293.1:c.4288G>C	NP_001192222.1:p.Gly1430Arg
NM_001205294.1:c.4231G>C	NP_001192223.1:p.Gly1411Arg
XM_011509971.1:c.4231G>C	XP_011508273.1:p.Gly1411Arg
NM_001205293.2:c.4288G>C	NP_001192222.1:p.Gly1430Arg
XM_017002243.1:c.4723G>C	XP_016857732.1:p.Gly1575Arg
XM_017002244.1:c.4723G>C	XP_016857733.1:p.Gly1575Arg
XM_017002245.1:c.4711G>C	XP_016857734.1:p.Gly1571Arg
XM_017002246.1:c.4711G>C	XP_016857735.1:p.Gly1571Arg
XM_017002247.1:c.4666G>C	XP_016857736.1:p.Gly1556Arg
XM_017002248.1:c.4723G>C	XP_016857737.1:p.Gly1575Arg
XM_017002249.1:c.4723G>C	XP_016857738.1:p.Gly1575Arg
XM_017002250.1:c.4666G>C	XP_016857739.1:p.Gly1556Arg
XM_017002251.1:c.4723G>C	XP_016857740.1:p.Gly1575Arg
NM_001205293.3:c.4288G>C MANE Select	NP_001192222.1:p.Gly1430Arg
NM_000721.4:c.4288G>C	NP_000712.2:p.Gly1430Arg
NM_001205294.2:c.4231G>C	NP_001192223.1:p.Gly1411Arg