Canonical Allele Identifier: CA9239341
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 421988
dbSNP Id: rs375354077

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13209333G>A , CM000681.2:g.13209333G>A GRCh38
NC_000019.9:g.13320147G>A , CM000681.1:g.13320147G>A GRCh37
NC_000019.8:g.13181147G>A NCBI36
NG_011569.1:g.302128C>T , LRG_7:g.302128C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360228.11:c.6505C>T MANE Select ENSP00000353362.5:p.Arg2169Cys
ENST00000573710.7:c.6511C>T ENSP00000460092.3:p.Arg2171Cys
ENST00000585802.6:c.1630C>T ENSP00000465598.2:p.Arg544Cys
ENST00000635727.1:c.6508C>T ENSP00000490001.1:p.Arg2170Cys
ENST00000635895.1:c.6508C>T ENSP00000490323.1:p.Arg2170Cys
ENST00000636012.1:c.6472C>T ENSP00000490223.1:p.Arg2158Cys
ENST00000636389.1:c.6508C>T ENSP00000489992.1:p.Arg2170Cys
ENST00000636473.1:c.1375C>T ENSP00000490173.1:p.Arg459Cys
ENST00000636549.1:c.6514C>T ENSP00000490578.1:p.Arg2172Cys
ENST00000636610.1:n.2872C>T
ENST00000636768.1:c.999C>T ENSP00000490190.1:n.999C>T
ENST00000637276.1:c.6472C>T ENSP00000489777.1:p.Arg2158Cys
ENST00000637432.1:c.6523C>T ENSP00000490617.1:p.Arg2175Cys
ENST00000637736.1:c.6367C>T ENSP00000489861.1:p.Arg2123Cys
ENST00000637769.1:c.6508C>T ENSP00000489778.1:p.Arg2170Cys
ENST00000637927.1:c.6511C>T ENSP00000489715.1:p.Arg2171Cys
ENST00000638009.2:c.6508C>T ENSP00000489913.1:p.Arg2170Cys
ENST00000638029.1:c.6523C>T ENSP00000489829.1:p.Arg2175Cys
ENST00000664864.1:c.6709C>T ENSP00000499449.1:p.Arg2237Cys
ENST00000360228.9:c.6505C>T ENSP00000353362.5:p.Arg2169Cys
ENST00000573710.6:c.6508C>T ENSP00000460092.2:p.Arg2170Cys
ENST00000585802.5:c.2527C>T ENSP00000465598.1:p.Arg843Cys
ENST00000587525.5:c.1930C>T ENSP00000467729.1:p.Arg644Cys
ENST00000614285.4:c.6523C>T ENSP00000479983.1:p.Arg2175Cys
NM_000068.3:c.6523C>T NP_000059.3:p.Arg2175Cys
NM_001127221.1:c.6508C>T , LRG_7t1:c.6508C>T NP_001120693.1:p.Arg2170Cys
NM_001127222.1:c.6505C>T NP_001120694.1:p.Arg2169Cys
NM_001174080.1:c.6514C>T NP_001167551.1:p.Arg2172Cys
NM_023035.2:c.6523C>T NP_075461.2:p.Arg2175Cys
NM_000068.4:c.6523C>T NP_000059.3:p.Arg2175Cys
NM_001127222.2:c.6505C>T MANE Select NP_001120694.1:p.Arg2169Cys
NM_001174080.2:c.6514C>T NP_001167551.1:p.Arg2172Cys
NM_023035.3:c.6523C>T NP_075461.2:p.Arg2175Cys
NM_001127221.2:c.6508C>T NP_001120693.1:p.Arg2170Cys