Canonical Allele Identifier: CA9239765
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 387786
dbSNP Id: rs373678557

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13231842A>G , CM000681.2:g.13231842A>G GRCh38
NC_000019.9:g.13342656A>G , CM000681.1:g.13342656A>G GRCh37
NC_000019.8:g.13203656A>G NCBI36
NG_011569.1:g.279619T>C , LRG_7:g.279619T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.5268T>C MANE Select ENSP00000353362.5:p.Ala1756=
ENST00000573710.7:c.5274T>C ENSP00000460092.3:p.Ala1758=
ENST00000573891.6:c.687T>C
ENST00000574822.6:n.492T>C
ENST00000585802.6:c.429T>C ENSP00000465598.2:p.Ala143=
ENST00000635727.1:c.5271T>C ENSP00000490001.1:p.Ala1757=
ENST00000635742.1:n.1257T>C
ENST00000635895.1:c.5271T>C ENSP00000490323.1:p.Ala1757=
ENST00000636012.1:c.5271T>C ENSP00000490223.1:p.Ala1757=
ENST00000636058.1:c.583T>C
ENST00000636389.1:c.5271T>C ENSP00000489992.1:p.Ala1757=
ENST00000636473.1:c.363T>C ENSP00000490173.1:p.Ala121=
ENST00000636549.1:c.5277T>C ENSP00000490578.1:p.Ala1759=
ENST00000637276.1:c.5271T>C ENSP00000489777.1:p.Ala1757=
ENST00000637297.1:c.564T>C ENSP00000489692.1:p.Ala188=
ENST00000637432.1:c.5286T>C ENSP00000490617.1:p.Ala1762=
ENST00000637736.1:c.5130T>C ENSP00000489861.1:p.Ala1710=
ENST00000637769.1:c.5271T>C ENSP00000489778.1:p.Ala1757=
ENST00000637777.1:c.462T>C
ENST00000637809.1:n.661T>C
ENST00000637819.1:c.672T>C ENSP00000490686.1:p.Ala224=
ENST00000637832.1:n.262T>C
ENST00000637927.1:c.5274T>C ENSP00000489715.1:p.Ala1758=
ENST00000638009.2:c.5271T>C ENSP00000489913.1:p.Ala1757=
ENST00000638029.1:c.5286T>C ENSP00000489829.1:p.Ala1762=
ENST00000664864.1:c.5472T>C ENSP00000499449.1:p.Ala1824=
ENST00000360228.9:c.5268T>C ENSP00000353362.5:p.Ala1756=
ENST00000573710.6:c.5271T>C ENSP00000460092.2:p.Ala1757=
ENST00000573891.5:c.687T>C
ENST00000574822.5:n.492T>C
ENST00000585802.5:c.1326T>C ENSP00000465598.1:p.Ala442=
ENST00000587525.5:c.729T>C ENSP00000467729.1:p.Ala243=
ENST00000614285.4:c.5286T>C ENSP00000479983.1:p.Ala1762=
NM_000068.3:c.5286T>C NP_000059.3:p.Ala1762=
NM_001127221.1:c.5271T>C , LRG_7t1:c.5271T>C NP_001120693.1:p.Ala1757=
NM_001127222.1:c.5268T>C NP_001120694.1:p.Ala1756=
NM_001174080.1:c.5277T>C NP_001167551.1:p.Ala1759=
NM_023035.2:c.5286T>C NP_075461.2:p.Ala1762=
NM_000068.4:c.5286T>C NP_000059.3:p.Ala1762=
NM_001127222.2:c.5268T>C MANE Select NP_001120694.1:p.Ala1756=
NM_001174080.2:c.5277T>C NP_001167551.1:p.Ala1759=
NM_023035.3:c.5286T>C NP_075461.2:p.Ala1762=
NM_001127221.2:c.5271T>C NP_001120693.1:p.Ala1757=