Canonical Allele Identifier: CA404340029
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 992630
dbSNP Id: rs2056768058

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13262796A>G , CM000681.2:g.13262796A>G GRCh38
NC_000019.9:g.13373610A>G , CM000681.1:g.13373610A>G GRCh37
NC_000019.8:g.13234610A>G NCBI36
NG_011569.1:g.248665T>C , LRG_7:g.248665T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360228.11:c.4027T>C MANE Select ENSP00000353362.5:p.Ser1343Pro
ENST00000573710.7:c.4033T>C ENSP00000460092.3:p.Ser1345Pro
ENST00000635727.1:c.4030T>C ENSP00000490001.1:p.Ser1344Pro
ENST00000635742.1:n.16T>C
ENST00000635895.1:c.4030T>C ENSP00000490323.1:p.Ser1344Pro
ENST00000635917.1:n.519T>C
ENST00000636012.1:c.4030T>C ENSP00000490223.1:p.Ser1344Pro
ENST00000636389.1:c.4030T>C ENSP00000489992.1:p.Ser1344Pro
ENST00000636549.1:c.4030T>C ENSP00000490578.1:p.Ser1344Pro
ENST00000636816.1:n.715T>C
ENST00000637004.1:n.493T>C
ENST00000637276.1:c.4030T>C ENSP00000489777.1:p.Ser1344Pro
ENST00000637432.1:c.4039T>C ENSP00000490617.1:p.Ser1347Pro
ENST00000637692.1:n.349T>C
ENST00000637736.1:c.3889T>C ENSP00000489861.1:p.Ser1297Pro
ENST00000637769.1:c.4030T>C ENSP00000489778.1:p.Ser1344Pro
ENST00000637927.1:c.4033T>C ENSP00000489715.1:p.Ser1345Pro
ENST00000638009.2:c.4030T>C ENSP00000489913.1:p.Ser1344Pro
ENST00000638029.1:c.4039T>C ENSP00000489829.1:p.Ser1347Pro
ENST00000664864.1:c.4225T>C ENSP00000499449.1:p.Ser1409Pro
ENST00000360228.9:c.4027T>C ENSP00000353362.5:p.Ser1343Pro
ENST00000573710.6:c.4030T>C ENSP00000460092.2:p.Ser1344Pro
ENST00000585802.5:c.85T>C ENSP00000465598.1:p.Ser29Pro
ENST00000590205.1:n.106T>C
ENST00000614285.4:c.4039T>C ENSP00000479983.1:p.Ser1347Pro
NM_000068.3:c.4039T>C NP_000059.3:p.Ser1347Pro
NM_001127221.1:c.4030T>C , LRG_7t1:c.4030T>C NP_001120693.1:p.Ser1344Pro
NM_001127222.1:c.4027T>C NP_001120694.1:p.Ser1343Pro
NM_001174080.1:c.4030T>C NP_001167551.1:p.Ser1344Pro
NM_023035.2:c.4039T>C NP_075461.2:p.Ser1347Pro
NM_000068.4:c.4039T>C NP_000059.3:p.Ser1347Pro
NM_001127222.2:c.4027T>C MANE Select NP_001120694.1:p.Ser1343Pro
NM_001174080.2:c.4030T>C NP_001167551.1:p.Ser1344Pro
NM_023035.3:c.4039T>C NP_075461.2:p.Ser1347Pro
NM_001127221.2:c.4030T>C NP_001120693.1:p.Ser1344Pro