Canonical Allele Identifier: CA119656

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 8509
• ClinVar RCV Id: RCV000009034 ; RCV001836705
• dbSNP Id: rs267606696
• MyVariant Identifiers: chr19:g.13340972G>A (hg19) ; chr19:g.13230158G>A (hg38)
• PubMed: PMID:11564488 ; PMID:11809294

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13230158G>A , CM000681.2:g.13230158G>A	GRCh38
NC_000019.9:g.13340972G>A , CM000681.1:g.13340972G>A	GRCh37
NC_000019.8:g.13201972G>A	NCBI36
NG_011569.1:g.281303C>T , LRG_7:g.281303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5452C>T MANE Select	ENSP00000353362.5:p.Arg1818Ter
ENST00000573710.7:c.5458C>T	ENSP00000460092.3:p.Arg1820Ter
ENST00000573891.6:c.871C>T
ENST00000574822.6:n.676C>T
ENST00000585802.6:c.613C>T	ENSP00000465598.2:p.Arg205Ter
ENST00000635727.1:c.5455C>T	ENSP00000490001.1:p.Arg1819Ter
ENST00000635742.1:n.1441C>T
ENST00000635895.1:c.5455C>T	ENSP00000490323.1:p.Arg1819Ter
ENST00000636012.1:c.5455C>T	ENSP00000490223.1:p.Arg1819Ter
ENST00000636389.1:c.5455C>T	ENSP00000489992.1:p.Arg1819Ter
ENST00000636473.1:c.495+1552C>T	ENSP00000490173.1:n.495+1552C>T
ENST00000636549.1:c.5461C>T	ENSP00000490578.1:p.Arg1821Ter
ENST00000636768.1:c.79C>T	ENSP00000490190.1:p.Arg27Ter
ENST00000637276.1:c.5455C>T	ENSP00000489777.1:p.Arg1819Ter
ENST00000637432.1:c.5470C>T	ENSP00000490617.1:p.Arg1824Ter
ENST00000637736.1:c.5314C>T	ENSP00000489861.1:p.Arg1772Ter
ENST00000637769.1:c.5455C>T	ENSP00000489778.1:p.Arg1819Ter
ENST00000637777.1:c.646C>T
ENST00000637809.1:n.845C>T
ENST00000637819.1:c.856C>T	ENSP00000490686.1:p.Arg286Ter
ENST00000637832.1:n.446C>T
ENST00000637927.1:c.5458C>T	ENSP00000489715.1:p.Arg1820Ter
ENST00000638009.2:c.5455C>T	ENSP00000489913.1:p.Arg1819Ter
ENST00000638029.1:c.5470C>T	ENSP00000489829.1:p.Arg1824Ter
ENST00000664864.1:c.5656C>T	ENSP00000499449.1:p.Arg1886Ter
ENST00000360228.9:c.5452C>T	ENSP00000353362.5:p.Arg1818Ter
ENST00000573710.6:c.5455C>T	ENSP00000460092.2:p.Arg1819Ter
ENST00000574822.5:n.676C>T
ENST00000585802.5:c.1510C>T	ENSP00000465598.1:p.Arg504Ter
ENST00000587525.5:c.913C>T	ENSP00000467729.1:p.Arg305Ter
ENST00000614285.4:c.5470C>T	ENSP00000479983.1:p.Arg1824Ter
NM_000068.3:c.5470C>T	NP_000059.3:p.Arg1824Ter
NM_001127221.1:c.5455C>T , LRG_7t1:c.5455C>T	NP_001120693.1:p.Arg1819Ter
NM_001127222.1:c.5452C>T	NP_001120694.1:p.Arg1818Ter
NM_001174080.1:c.5461C>T	NP_001167551.1:p.Arg1821Ter
NM_023035.2:c.5470C>T	NP_075461.2:p.Arg1824Ter
NM_000068.4:c.5470C>T	NP_000059.3:p.Arg1824Ter
NM_001127222.2:c.5452C>T MANE Select	NP_001120694.1:p.Arg1818Ter
NM_001174080.2:c.5461C>T	NP_001167551.1:p.Arg1821Ter
NM_023035.3:c.5470C>T	NP_075461.2:p.Arg1824Ter
NM_001127221.2:c.5455C>T	NP_001120693.1:p.Arg1819Ter