Canonical Allele Identifier: CA404340598

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 542820
• ClinVar RCV Id: RCV000653321
• dbSNP Id: rs1555751762
• MyVariant Identifiers: chr19:g.13394116C>T (hg19) ; chr19:g.13283302C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13283302C>T , CM000681.2:g.13283302C>T	GRCh38
NC_000019.9:g.13394116C>T , CM000681.1:g.13394116C>T	GRCh37
NC_000019.8:g.13255116C>T	NCBI36
NG_011569.1:g.228159G>A , LRG_7:g.228159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.3787G>A MANE Select	ENSP00000353362.5:p.Glu1263Lys
ENST00000573710.7:c.3793G>A	ENSP00000460092.3:p.Glu1265Lys
ENST00000635727.1:c.3790G>A	ENSP00000490001.1:p.Glu1264Lys
ENST00000635786.1:n.286G>A
ENST00000635895.1:c.3790G>A	ENSP00000490323.1:p.Glu1264Lys
ENST00000635917.1:n.279G>A
ENST00000636012.1:c.3790G>A	ENSP00000490223.1:p.Glu1264Lys
ENST00000636389.1:c.3790G>A	ENSP00000489992.1:p.Glu1264Lys
ENST00000636549.1:c.3790G>A	ENSP00000490578.1:p.Glu1264Lys
ENST00000637004.1:n.253G>A
ENST00000637276.1:c.3790G>A	ENSP00000489777.1:p.Glu1264Lys
ENST00000637432.1:c.3799G>A	ENSP00000490617.1:p.Glu1267Lys
ENST00000637736.1:c.3649G>A	ENSP00000489861.1:p.Glu1217Lys
ENST00000637769.1:c.3790G>A	ENSP00000489778.1:p.Glu1264Lys
ENST00000637774.1:n.1267G>A
ENST00000637927.1:c.3793G>A	ENSP00000489715.1:p.Glu1265Lys
ENST00000638009.2:c.3790G>A	ENSP00000489913.1:p.Glu1264Lys
ENST00000638029.1:c.3799G>A	ENSP00000489829.1:p.Glu1267Lys
ENST00000664864.1:c.3985G>A	ENSP00000499449.1:p.Glu1329Lys
ENST00000360228.9:c.3787G>A	ENSP00000353362.5:p.Glu1263Lys
ENST00000573710.6:c.3790G>A	ENSP00000460092.2:p.Glu1264Lys
ENST00000614285.4:c.3799G>A	ENSP00000479983.1:p.Glu1267Lys
NM_000068.3:c.3799G>A	NP_000059.3:p.Glu1267Lys
NM_001127221.1:c.3790G>A , LRG_7t1:c.3790G>A	NP_001120693.1:p.Glu1264Lys
NM_001127222.1:c.3787G>A	NP_001120694.1:p.Glu1263Lys
NM_001174080.1:c.3790G>A	NP_001167551.1:p.Glu1264Lys
NM_023035.2:c.3799G>A	NP_075461.2:p.Glu1267Lys
NM_000068.4:c.3799G>A	NP_000059.3:p.Glu1267Lys
NM_001127222.2:c.3787G>A MANE Select	NP_001120694.1:p.Glu1263Lys
NM_001174080.2:c.3790G>A	NP_001167551.1:p.Glu1264Lys
NM_023035.3:c.3799G>A	NP_075461.2:p.Glu1267Lys
NM_001127221.2:c.3790G>A	NP_001120693.1:p.Glu1264Lys