Canonical Allele Identifier: CA241161

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 194928
• ClinVar RCV Id: RCV000175409 ; RCV000210670 ; RCV000432960 ; RCV000660566 ; RCV001080527 ; RCV001251922 ; RCV003985285
• dbSNP Id: rs16024
• ExAC: 19:13409407 C / T
• gnomAD v2: 19-13409407-C-T
• gnomAD v3: 19-13298593-C-T
• gnomAD v4: 19-13298593-C-T
• MyVariant Identifiers: chr19:g.13409407C>T (hg19) ; chr19:g.13298593C>T (hg38)
• PubMed: PMID:1564484 ; PMID:3358708 ; PMID:8898206 ; PMID:8988170 ; PMID:9005860 ; PMID:9302278 ; PMID:9403487 ; PMID:9436730 ; PMID:9559993 ; PMID:9879686 ; PMID:11179022 ; PMID:11564488 ; PMID:11723274 ; PMID:12707077 ; PMID:14718690 ; PMID:15300451 ; PMID:15483044 ; PMID:15710862 ; PMID:16043807 ; PMID:16325861 ; PMID:16595610 ; PMID:17142831 ; PMID:17495624 ; PMID:17575281 ; PMID:18498393 ; PMID:18541804 ; PMID:18940563 ; PMID:19484318 ; PMID:19811514 ; PMID:20097664 ; PMID:20129625 ; PMID:20156848 ; PMID:20204399 ; PMID:20233618 ; PMID:20682717 ; PMID:22249839 ; PMID:23441182 ; PMID:23771276 ; PMID:23831250 ; PMID:23891399 ; PMID:23934111 ; PMID:25735478 ; PMID:25758715 ; PMID:26814174 ; PMID:27476654 ; PMID:28742085

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13298593C>T , CM000681.2:g.13298593C>T	GRCh38
NC_000019.9:g.13409407C>T , CM000681.1:g.13409407C>T	GRCh37
NC_000019.8:g.13270407C>T	NCBI36
NG_011569.1:g.212868G>A , LRG_7:g.212868G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.3040G>A MANE Select	ENSP00000353362.5:p.Glu1014Lys
ENST00000573710.7:c.3046G>A	ENSP00000460092.3:p.Glu1016Lys
ENST00000635727.1:c.3043G>A	ENSP00000490001.1:p.Glu1015Lys
ENST00000635895.1:c.3043G>A	ENSP00000490323.1:p.Glu1015Lys
ENST00000636012.1:c.3043G>A	ENSP00000490223.1:p.Glu1015Lys
ENST00000636389.1:c.3043G>A	ENSP00000489992.1:p.Glu1015Lys
ENST00000636549.1:c.3043G>A	ENSP00000490578.1:p.Glu1015Lys
ENST00000637276.1:c.3043G>A	ENSP00000489777.1:p.Glu1015Lys
ENST00000637432.1:c.3052G>A	ENSP00000490617.1:p.Glu1018Lys
ENST00000637736.1:c.2902G>A	ENSP00000489861.1:p.Glu968Lys
ENST00000637769.1:c.3043G>A	ENSP00000489778.1:p.Glu1015Lys
ENST00000637927.1:c.3046G>A	ENSP00000489715.1:p.Glu1016Lys
ENST00000638009.2:c.3043G>A	ENSP00000489913.1:p.Glu1015Lys
ENST00000638029.1:c.3052G>A	ENSP00000489829.1:p.Glu1018Lys
ENST00000664864.1:c.3238G>A	ENSP00000499449.1:p.Glu1080Lys
ENST00000360228.9:c.3040G>A	ENSP00000353362.5:p.Glu1014Lys
ENST00000573710.6:c.3043G>A	ENSP00000460092.2:p.Glu1015Lys
ENST00000614285.4:c.3052G>A	ENSP00000479983.1:p.Glu1018Lys
NM_000068.3:c.3052G>A	NP_000059.3:p.Glu1018Lys
NM_001127221.1:c.3043G>A , LRG_7t1:c.3043G>A	NP_001120693.1:p.Glu1015Lys
NM_001127222.1:c.3040G>A	NP_001120694.1:p.Glu1014Lys
NM_001174080.1:c.3043G>A	NP_001167551.1:p.Glu1015Lys
NM_023035.2:c.3052G>A	NP_075461.2:p.Glu1018Lys
NM_000068.4:c.3052G>A	NP_000059.3:p.Glu1018Lys
NM_001127222.2:c.3040G>A MANE Select	NP_001120694.1:p.Glu1014Lys
NM_001174080.2:c.3043G>A	NP_001167551.1:p.Glu1015Lys
NM_023035.3:c.3052G>A	NP_075461.2:p.Glu1018Lys
NM_001127221.2:c.3043G>A	NP_001120693.1:p.Glu1015Lys