Canonical Allele Identifier: CA16607714

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 380972
• ClinVar RCV Id: RCV000435974 ; RCV000624902 ; RCV000787277 ; RCV000763033 ; RCV001078138 ; RCV001251039 ; RCV002227161 ; RCV003333066 ; RCV003223404
• dbSNP Id: rs1057520918
• MyVariant Identifiers: chr19:g.13373594C>T (hg19) ; chr19:g.13262780C>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:23934111 ; PMID:25735478 ; PMID:25758715 ; PMID:26814174 ; PMID:27476654 ; PMID:28135719 ; PMID:28742085

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262780C>T , CM000681.2:g.13262780C>T	GRCh38
NC_000019.9:g.13373594C>T , CM000681.1:g.13373594C>T	GRCh37
NC_000019.8:g.13234594C>T	NCBI36
NG_011569.1:g.248681G>A , LRG_7:g.248681G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4043G>A MANE Select	ENSP00000353362.5:p.Arg1348Gln
ENST00000573710.7:c.4049G>A	ENSP00000460092.3:p.Arg1350Gln
ENST00000635727.1:c.4046G>A	ENSP00000490001.1:p.Arg1349Gln
ENST00000635742.1:n.32G>A
ENST00000635895.1:c.4046G>A	ENSP00000490323.1:p.Arg1349Gln
ENST00000635917.1:n.535G>A
ENST00000636012.1:c.4046G>A	ENSP00000490223.1:p.Arg1349Gln
ENST00000636389.1:c.4046G>A	ENSP00000489992.1:p.Arg1349Gln
ENST00000636549.1:c.4046G>A	ENSP00000490578.1:p.Arg1349Gln
ENST00000636816.1:n.731G>A
ENST00000637004.1:n.509G>A
ENST00000637276.1:c.4046G>A	ENSP00000489777.1:p.Arg1349Gln
ENST00000637432.1:c.4055G>A	ENSP00000490617.1:p.Arg1352Gln
ENST00000637692.1:n.365G>A
ENST00000637736.1:c.3905G>A	ENSP00000489861.1:p.Arg1302Gln
ENST00000637769.1:c.4046G>A	ENSP00000489778.1:p.Arg1349Gln
ENST00000637927.1:c.4049G>A	ENSP00000489715.1:p.Arg1350Gln
ENST00000638009.2:c.4046G>A	ENSP00000489913.1:p.Arg1349Gln
ENST00000638029.1:c.4055G>A	ENSP00000489829.1:p.Arg1352Gln
ENST00000664864.1:c.4241G>A	ENSP00000499449.1:p.Arg1414Gln
ENST00000360228.9:c.4043G>A	ENSP00000353362.5:p.Arg1348Gln
ENST00000573710.6:c.4046G>A	ENSP00000460092.2:p.Arg1349Gln
ENST00000585802.5:c.101G>A	ENSP00000465598.1:p.Arg34Gln
ENST00000590205.1:n.122G>A
ENST00000614285.4:c.4055G>A	ENSP00000479983.1:p.Arg1352Gln
NM_000068.3:c.4055G>A	NP_000059.3:p.Arg1352Gln
NM_001127221.1:c.4046G>A , LRG_7t1:c.4046G>A	NP_001120693.1:p.Arg1349Gln
NM_001127222.1:c.4043G>A	NP_001120694.1:p.Arg1348Gln
NM_001174080.1:c.4046G>A	NP_001167551.1:p.Arg1349Gln
NM_023035.2:c.4055G>A	NP_075461.2:p.Arg1352Gln
NM_000068.4:c.4055G>A	NP_000059.3:p.Arg1352Gln
NM_001127222.2:c.4043G>A MANE Select	NP_001120694.1:p.Arg1348Gln
NM_001174080.2:c.4046G>A	NP_001167551.1:p.Arg1349Gln
NM_023035.3:c.4055G>A	NP_075461.2:p.Arg1352Gln
NM_001127221.2:c.4046G>A	NP_001120693.1:p.Arg1349Gln