Canonical Allele Identifier: CA343846614

Gene: CACNA1E

Linked Data

• MyVariant Identifiers: chr1:g.181620549C>T (hg19) ; chr1:g.181651413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.181651413C>T , CM000663.2:g.181651413C>T	GRCh38
NC_000001.10:g.181620549C>T , CM000663.1:g.181620549C>T	GRCh37
NC_000001.9:g.179887172C>T	NCBI36
NG_050616.1:g.173103C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367570.6:c.1027C>T	ENSP00000356542.1:p.Leu343Phe
ENST00000700187.1:n.1009C>T
ENST00000367573.7:c.1027C>T MANE Select	ENSP00000356545.2:p.Leu343Phe
ENST00000524607.6:c.1462C>T	ENSP00000432038.2:p.Leu488Phe
ENST00000357570.9:c.1027C>T	ENSP00000350183.6:p.Leu343Phe
ENST00000358338.7:c.1027C>T	ENSP00000351101.6:p.Leu343Phe
ENST00000360108.7:c.1027C>T	ENSP00000353222.3:p.Leu343Phe
ENST00000367567.8:c.1027C>T	ENSP00000356539.5:p.Leu343Phe
ENST00000367570.5:c.1027C>T	ENSP00000356542.1:p.Leu343Phe
ENST00000367573.6:c.1027C>T	ENSP00000356545.2:p.Leu343Phe
ENST00000524607.5:c.1027C>T	ENSP00000432038.1:p.Leu343Phe
ENST00000533229.1:n.1461C>T
ENST00000621551.3:c.1027C>T	ENSP00000483914.1:p.Leu343Phe
ENST00000621791.4:c.1027C>T	ENSP00000481619.1:p.Leu343Phe
NM_000721.3:c.1027C>T	NP_000712.2:p.Leu343Phe
NM_001205293.1:c.1027C>T	NP_001192222.1:p.Leu343Phe
NM_001205294.1:c.1027C>T	NP_001192223.1:p.Leu343Phe
XM_011509971.1:c.1027C>T	XP_011508273.1:p.Leu343Phe
NM_001205293.2:c.1027C>T	NP_001192222.1:p.Leu343Phe
XM_017002243.1:c.1462C>T	XP_016857732.1:p.Leu488Phe
XM_017002244.1:c.1462C>T	XP_016857733.1:p.Leu488Phe
XM_017002245.1:c.1462C>T	XP_016857734.1:p.Leu488Phe
XM_017002246.1:c.1462C>T	XP_016857735.1:p.Leu488Phe
XM_017002247.1:c.1462C>T	XP_016857736.1:p.Leu488Phe
XM_017002248.1:c.1462C>T	XP_016857737.1:p.Leu488Phe
XM_017002249.1:c.1462C>T	XP_016857738.1:p.Leu488Phe
XM_017002250.1:c.1462C>T	XP_016857739.1:p.Leu488Phe
XM_017002251.1:c.1462C>T	XP_016857740.1:p.Leu488Phe
NM_001205293.3:c.1027C>T MANE Select	NP_001192222.1:p.Leu343Phe
NM_000721.4:c.1027C>T	NP_000712.2:p.Leu343Phe
NM_001205294.2:c.1027C>T	NP_001192223.1:p.Leu343Phe