Canonical Allele Identifier: CA658658786

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 451238
• ClinVar RCV Id: RCV000520747 ; RCV001336210
• dbSNP Id: rs1555755878
• MyVariant Identifiers: chr19:g.13409488_13409489dup (hg19) ; chr19:g.13298674_13298675dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13298675_13298676dup , CM000681.2:g.13298675_13298676dup	GRCh38
NC_000019.9:g.13409489_13409490dup , CM000681.1:g.13409489_13409490dup	GRCh37
NC_000019.8:g.13270489_13270490dup	NCBI36
NG_011569.1:g.212786_212787dup , LRG_7:g.212786_212787dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.2958_2959dup MANE Select	ENSP00000353362.5:p.Arg987ProfsTer?
ENST00000573710.7:c.2964_2965dup	ENSP00000460092.3:p.Arg989ProfsTer?
ENST00000635727.1:c.2961_2962dup	ENSP00000490001.1:p.Arg988ProfsTer?
ENST00000635895.1:c.2961_2962dup	ENSP00000490323.1:p.Arg988ProfsTer?
ENST00000636012.1:c.2961_2962dup	ENSP00000490223.1:p.Arg988ProfsTer?
ENST00000636389.1:c.2961_2962dup	ENSP00000489992.1:p.Arg988ProfsTer?
ENST00000636549.1:c.2961_2962dup	ENSP00000490578.1:p.Arg988ProfsTer?
ENST00000637276.1:c.2961_2962dup	ENSP00000489777.1:p.Arg988ProfsTer?
ENST00000637432.1:c.2970_2971dup	ENSP00000490617.1:p.Arg991ProfsTer?
ENST00000637736.1:c.2820_2821dup	ENSP00000489861.1:p.Arg941ProfsTer?
ENST00000637769.1:c.2961_2962dup	ENSP00000489778.1:p.Arg988ProfsTer?
ENST00000637927.1:c.2964_2965dup	ENSP00000489715.1:p.Arg989ProfsTer?
ENST00000638009.2:c.2961_2962dup	ENSP00000489913.1:p.Arg988ProfsTer?
ENST00000638029.1:c.2970_2971dup	ENSP00000489829.1:p.Arg991ProfsTer?
ENST00000664864.1:c.3156_3157dup	ENSP00000499449.1:p.Arg1053ProfsTer?
ENST00000360228.9:c.2958_2959dup	ENSP00000353362.5:p.Arg987ProfsTer?
ENST00000573710.6:c.2961_2962dup	ENSP00000460092.2:p.Arg988ProfsTer?
ENST00000614285.4:c.2970_2971dup	ENSP00000479983.1:p.Arg991ProfsTer?
NM_000068.3:c.2970_2971dup	NP_000059.3:p.Arg991ProfsTer?
NM_001127221.1:c.2961_2962dup , LRG_7t1:c.2961_2962dup	NP_001120693.1:p.Arg988ProfsTer?
NM_001127222.1:c.2958_2959dup	NP_001120694.1:p.Arg987ProfsTer?
NM_001174080.1:c.2961_2962dup	NP_001167551.1:p.Arg988ProfsTer?
NM_023035.2:c.2970_2971dup	NP_075461.2:p.Arg991ProfsTer?
NM_000068.4:c.2970_2971dup	NP_000059.3:p.Arg991ProfsTer?
NM_001127222.2:c.2958_2959dup MANE Select	NP_001120694.1:p.Arg987ProfsTer?
NM_001174080.2:c.2961_2962dup	NP_001167551.1:p.Arg988ProfsTer?
NM_023035.3:c.2970_2971dup	NP_075461.2:p.Arg991ProfsTer?
NM_001127221.2:c.2961_2962dup	NP_001120693.1:p.Arg988ProfsTer?