Canonical Allele Identifier: CA16620785
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 422469
ClinVar RCV Id: RCV000479097
dbSNP Id: rs1064795800

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13262744G>T , CM000681.2:g.13262744G>T GRCh38
NC_000019.9:g.13373558G>T , CM000681.1:g.13373558G>T GRCh37
NC_000019.8:g.13234558G>T NCBI36
NG_011569.1:g.248717C>A , LRG_7:g.248717C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.4079C>A MANE Select ENSP00000353362.5:p.Pro1360Gln
ENST00000573710.7:c.4085C>A ENSP00000460092.3:p.Pro1362Gln
ENST00000635727.1:c.4082C>A ENSP00000490001.1:p.Pro1361Gln
ENST00000635742.1:n.68C>A
ENST00000635895.1:c.4082C>A ENSP00000490323.1:p.Pro1361Gln
ENST00000635917.1:n.571C>A
ENST00000636012.1:c.4082C>A ENSP00000490223.1:p.Pro1361Gln
ENST00000636389.1:c.4082C>A ENSP00000489992.1:p.Pro1361Gln
ENST00000636549.1:c.4082C>A ENSP00000490578.1:p.Pro1361Gln
ENST00000636816.1:n.767C>A
ENST00000637004.1:n.545C>A
ENST00000637276.1:c.4082C>A ENSP00000489777.1:p.Pro1361Gln
ENST00000637432.1:c.4091C>A ENSP00000490617.1:p.Pro1364Gln
ENST00000637692.1:n.401C>A
ENST00000637736.1:c.3941C>A ENSP00000489861.1:p.Pro1314Gln
ENST00000637769.1:c.4082C>A ENSP00000489778.1:p.Pro1361Gln
ENST00000637927.1:c.4085C>A ENSP00000489715.1:p.Pro1362Gln
ENST00000638009.2:c.4082C>A ENSP00000489913.1:p.Pro1361Gln
ENST00000638029.1:c.4091C>A ENSP00000489829.1:p.Pro1364Gln
ENST00000664864.1:c.4277C>A ENSP00000499449.1:p.Pro1426Gln
ENST00000360228.9:c.4079C>A ENSP00000353362.5:p.Pro1360Gln
ENST00000573710.6:c.4082C>A ENSP00000460092.2:p.Pro1361Gln
ENST00000585802.5:c.137C>A ENSP00000465598.1:p.Pro46Gln
ENST00000590205.1:n.158C>A
ENST00000614285.4:c.4091C>A ENSP00000479983.1:p.Pro1364Gln
NM_000068.3:c.4091C>A NP_000059.3:p.Pro1364Gln
NM_001127221.1:c.4082C>A , LRG_7t1:c.4082C>A NP_001120693.1:p.Pro1361Gln
NM_001127222.1:c.4079C>A NP_001120694.1:p.Pro1360Gln
NM_001174080.1:c.4082C>A NP_001167551.1:p.Pro1361Gln
NM_023035.2:c.4091C>A NP_075461.2:p.Pro1364Gln
NM_000068.4:c.4091C>A NP_000059.3:p.Pro1364Gln
NM_001127222.2:c.4079C>A MANE Select NP_001120694.1:p.Pro1360Gln
NM_001174080.2:c.4082C>A NP_001167551.1:p.Pro1361Gln
NM_023035.3:c.4091C>A NP_075461.2:p.Pro1364Gln
NM_001127221.2:c.4082C>A NP_001120693.1:p.Pro1361Gln