Canonical Allele Identifier: CA254415

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 8487
• ClinVar RCV Id: RCV000009008 ; RCV001533156 ; RCV002512926 ; RCV003231095
• dbSNP Id: rs121908211
• gnomAD v4: 19-13371744-C-T
• COSMIC: COSM1390828 ; COSM1390829 ; COSM1390830 ; COSM1390831
• MyVariant Identifiers: chr19:g.13482558C>T (hg19) ; chr19:g.13371744C>T (hg38)
• PubMed: PMID:8898206

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13371744C>T , CM000681.2:g.13371744C>T	GRCh38
NC_000019.9:g.13482558C>T , CM000681.1:g.13482558C>T	GRCh37
NC_000019.8:g.13343558C>T	NCBI36
NG_011569.1:g.139717G>A , LRG_7:g.139717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.575G>A MANE Select	ENSP00000353362.5:p.Arg192Gln
ENST00000573710.7:c.575G>A	ENSP00000460092.3:p.Arg192Gln
ENST00000593160.2:n.290G>A
ENST00000635727.1:c.575G>A	ENSP00000490001.1:p.Arg192Gln
ENST00000635895.1:c.575G>A	ENSP00000490323.1:p.Arg192Gln
ENST00000636012.1:c.575G>A	ENSP00000490223.1:p.Arg192Gln
ENST00000636389.1:c.575G>A	ENSP00000489992.1:p.Arg192Gln
ENST00000636549.1:c.575G>A	ENSP00000490578.1:p.Arg192Gln
ENST00000636966.1:n.463G>A
ENST00000637276.1:c.575G>A	ENSP00000489777.1:p.Arg192Gln
ENST00000637432.1:c.575G>A	ENSP00000490617.1:p.Arg192Gln
ENST00000637736.1:c.434G>A	ENSP00000489861.1:p.Arg145Gln
ENST00000637769.1:c.575G>A	ENSP00000489778.1:p.Arg192Gln
ENST00000637927.1:c.575G>A	ENSP00000489715.1:p.Arg192Gln
ENST00000637966.1:n.428G>A
ENST00000637981.1:n.393G>A
ENST00000638009.2:c.575G>A	ENSP00000489913.1:p.Arg192Gln
ENST00000638029.1:c.575G>A	ENSP00000489829.1:p.Arg192Gln
ENST00000664864.1:c.770G>A	ENSP00000499449.1:p.Arg257Gln
ENST00000360228.9:c.575G>A	ENSP00000353362.5:p.Arg192Gln
ENST00000573710.6:c.575G>A	ENSP00000460092.2:p.Arg192Gln
ENST00000614285.4:c.575G>A	ENSP00000479983.1:p.Arg192Gln
NM_000068.3:c.575G>A	NP_000059.3:p.Arg192Gln
NM_001127221.1:c.575G>A , LRG_7t1:c.575G>A	NP_001120693.1:p.Arg192Gln
NM_001127222.1:c.575G>A	NP_001120694.1:p.Arg192Gln
NM_001174080.1:c.575G>A	NP_001167551.1:p.Arg192Gln
NM_023035.2:c.575G>A	NP_075461.2:p.Arg192Gln
NM_000068.4:c.575G>A	NP_000059.3:p.Arg192Gln
NM_001127222.2:c.575G>A MANE Select	NP_001120694.1:p.Arg192Gln
NM_001174080.2:c.575G>A	NP_001167551.1:p.Arg192Gln
NM_023035.3:c.575G>A	NP_075461.2:p.Arg192Gln
NM_001127221.2:c.575G>A	NP_001120693.1:p.Arg192Gln