Canonical Allele Identifier: CA244130

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 196769
• ClinVar RCV Id: RCV000177634 ; RCV002298504 ; RCV001852195
• dbSNP Id: rs794727558
• gnomAD v4: 19-13235667-G-A
• COSMIC: COSM2817444 ; COSM2817445 ; COSM2817446 ; COSM2817447
• MyVariant Identifiers: chr19:g.13346481G>A (hg19) ; chr19:g.13235667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235667G>A , CM000681.2:g.13235667G>A	GRCh38
NC_000019.9:g.13346481G>A , CM000681.1:g.13346481G>A	GRCh37
NC_000019.8:g.13207481G>A	NCBI36
NG_011569.1:g.275794C>T , LRG_7:g.275794C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5014C>T MANE Select	ENSP00000353362.5:p.Arg1672Cys
ENST00000573710.7:c.5020C>T	ENSP00000460092.3:p.Arg1674Cys
ENST00000573891.6:c.433C>T
ENST00000574822.6:n.238C>T
ENST00000585802.6:c.175C>T	ENSP00000465598.2:p.Arg59Cys
ENST00000593267.2:n.219C>T
ENST00000635727.1:c.5017C>T	ENSP00000490001.1:p.Arg1673Cys
ENST00000635742.1:n.1003C>T
ENST00000635895.1:c.5017C>T	ENSP00000490323.1:p.Arg1673Cys
ENST00000636012.1:c.5017C>T	ENSP00000490223.1:p.Arg1673Cys
ENST00000636058.1:c.329C>T
ENST00000636389.1:c.5017C>T	ENSP00000489992.1:p.Arg1673Cys
ENST00000636473.1:c.175C>T	ENSP00000490173.1:p.Arg59Cys
ENST00000636549.1:c.5023C>T	ENSP00000490578.1:p.Arg1675Cys
ENST00000637276.1:c.5017C>T	ENSP00000489777.1:p.Arg1673Cys
ENST00000637297.1:c.310C>T	ENSP00000489692.1:p.Arg104Cys
ENST00000637432.1:c.5032C>T	ENSP00000490617.1:p.Arg1678Cys
ENST00000637736.1:c.4876C>T	ENSP00000489861.1:p.Arg1626Cys
ENST00000637769.1:c.5017C>T	ENSP00000489778.1:p.Arg1673Cys
ENST00000637777.1:c.274C>T
ENST00000637809.1:n.407C>T
ENST00000637819.1:c.418C>T	ENSP00000490686.1:p.Arg140Cys
ENST00000637832.1:n.8C>T
ENST00000637927.1:c.5020C>T	ENSP00000489715.1:p.Arg1674Cys
ENST00000638009.2:c.5017C>T	ENSP00000489913.1:p.Arg1673Cys
ENST00000638029.1:c.5032C>T	ENSP00000489829.1:p.Arg1678Cys
ENST00000664864.1:c.5218C>T	ENSP00000499449.1:p.Arg1740Cys
ENST00000360228.9:c.5014C>T	ENSP00000353362.5:p.Arg1672Cys
ENST00000573710.6:c.5017C>T	ENSP00000460092.2:p.Arg1673Cys
ENST00000573891.5:c.433C>T
ENST00000574822.5:n.238C>T
ENST00000585802.5:c.1072C>T	ENSP00000465598.1:p.Arg358Cys
ENST00000587525.5:c.475C>T	ENSP00000467729.1:p.Arg159Cys
ENST00000593267.1:n.219C>T
ENST00000614285.4:c.5032C>T	ENSP00000479983.1:p.Arg1678Cys
NM_000068.3:c.5032C>T	NP_000059.3:p.Arg1678Cys
NM_001127221.1:c.5017C>T , LRG_7t1:c.5017C>T	NP_001120693.1:p.Arg1673Cys
NM_001127222.1:c.5014C>T	NP_001120694.1:p.Arg1672Cys
NM_001174080.1:c.5023C>T	NP_001167551.1:p.Arg1675Cys
NM_023035.2:c.5032C>T	NP_075461.2:p.Arg1678Cys
NM_000068.4:c.5032C>T	NP_000059.3:p.Arg1678Cys
NM_001127222.2:c.5014C>T MANE Select	NP_001120694.1:p.Arg1672Cys
NM_001174080.2:c.5023C>T	NP_001167551.1:p.Arg1675Cys
NM_023035.3:c.5032C>T	NP_075461.2:p.Arg1678Cys
NM_001127221.2:c.5017C>T	NP_001120693.1:p.Arg1673Cys