Canonical Allele Identifier: CA16620780
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 422394
ClinVar RCV Id: RCV000486435
dbSNP Id: rs1064795751

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13235211G>T , CM000681.2:g.13235211G>T GRCh38
NC_000019.9:g.13346025G>T , CM000681.1:g.13346025G>T GRCh37
NC_000019.8:g.13207025G>T NCBI36
NG_011569.1:g.276250C>A , LRG_7:g.276250C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.5131C>A MANE Select ENSP00000353362.5:p.Gln1711Lys
ENST00000573710.7:c.5137C>A ENSP00000460092.3:p.Gln1713Lys
ENST00000573891.6:c.550C>A
ENST00000574822.6:n.355C>A
ENST00000585802.6:c.292C>A ENSP00000465598.2:p.Gln98Lys
ENST00000593267.2:n.336C>A
ENST00000635727.1:c.5134C>A ENSP00000490001.1:p.Gln1712Lys
ENST00000635742.1:n.1120C>A
ENST00000635895.1:c.5134C>A ENSP00000490323.1:p.Gln1712Lys
ENST00000636012.1:c.5134C>A ENSP00000490223.1:p.Gln1712Lys
ENST00000636058.1:c.446C>A
ENST00000636389.1:c.5134C>A ENSP00000489992.1:p.Gln1712Lys
ENST00000636473.1:c.229-175C>A ENSP00000490173.1:n.229-175C>A
ENST00000636549.1:c.5140C>A ENSP00000490578.1:p.Gln1714Lys
ENST00000637276.1:c.5134C>A ENSP00000489777.1:p.Gln1712Lys
ENST00000637297.1:c.427C>A ENSP00000489692.1:p.Gln143Lys
ENST00000637432.1:c.5149C>A ENSP00000490617.1:p.Gln1717Lys
ENST00000637736.1:c.4993C>A ENSP00000489861.1:p.Gln1665Lys
ENST00000637769.1:c.5134C>A ENSP00000489778.1:p.Gln1712Lys
ENST00000637777.1:c.328-175C>A
ENST00000637809.1:n.524C>A
ENST00000637819.1:c.535C>A ENSP00000490686.1:p.Gln179Lys
ENST00000637832.1:n.125C>A
ENST00000637927.1:c.5137C>A ENSP00000489715.1:p.Gln1713Lys
ENST00000638009.2:c.5134C>A ENSP00000489913.1:p.Gln1712Lys
ENST00000638029.1:c.5149C>A ENSP00000489829.1:p.Gln1717Lys
ENST00000664864.1:c.5335C>A ENSP00000499449.1:p.Gln1779Lys
ENST00000360228.9:c.5131C>A ENSP00000353362.5:p.Gln1711Lys
ENST00000573710.6:c.5134C>A ENSP00000460092.2:p.Gln1712Lys
ENST00000573891.5:c.550C>A
ENST00000574822.5:n.355C>A
ENST00000585802.5:c.1189C>A ENSP00000465598.1:p.Gln397Lys
ENST00000587525.5:c.592C>A ENSP00000467729.1:p.Gln198Lys
ENST00000593267.1:n.336C>A
ENST00000614285.4:c.5149C>A ENSP00000479983.1:p.Gln1717Lys
NM_000068.3:c.5149C>A NP_000059.3:p.Gln1717Lys
NM_001127221.1:c.5134C>A , LRG_7t1:c.5134C>A NP_001120693.1:p.Gln1712Lys
NM_001127222.1:c.5131C>A NP_001120694.1:p.Gln1711Lys
NM_001174080.1:c.5140C>A NP_001167551.1:p.Gln1714Lys
NM_023035.2:c.5149C>A NP_075461.2:p.Gln1717Lys
NM_000068.4:c.5149C>A NP_000059.3:p.Gln1717Lys
NM_001127222.2:c.5131C>A MANE Select NP_001120694.1:p.Gln1711Lys
NM_001174080.2:c.5140C>A NP_001167551.1:p.Gln1714Lys
NM_023035.3:c.5149C>A NP_075461.2:p.Gln1717Lys
NM_001127221.2:c.5134C>A NP_001120693.1:p.Gln1712Lys