Canonical Allele Identifier: CA2576642010

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235567T>C , CM000681.2:g.13235567T>C	GRCh38
NC_000019.9:g.13346381T>C , CM000681.1:g.13346381T>C	GRCh37
NC_000019.8:g.13207381T>C	NCBI36
NG_011569.1:g.275894A>G , LRG_7:g.275894A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5067+47A>G MANE Select	ENSP00000353362.5:n.5067+47A>G
ENST00000573710.7:c.5073+47A>G	ENSP00000460092.3:n.5073+47A>G
ENST00000573891.6:c.486+47A>G
ENST00000574822.6:n.291+47A>G
ENST00000585802.6:c.228+47A>G	ENSP00000465598.2:n.228+47A>G
ENST00000593267.2:n.272+47A>G
ENST00000635727.1:c.5070+47A>G	ENSP00000490001.1:n.5070+47A>G
ENST00000635742.1:n.1056+47A>G
ENST00000635895.1:c.5070+47A>G	ENSP00000490323.1:n.5070+47A>G
ENST00000636012.1:c.5070+47A>G	ENSP00000490223.1:n.5070+47A>G
ENST00000636058.1:c.382+47A>G
ENST00000636389.1:c.5070+47A>G	ENSP00000489992.1:n.5070+47A>G
ENST00000636473.1:c.228+47A>G	ENSP00000490173.1:n.228+47A>G
ENST00000636549.1:c.5076+47A>G	ENSP00000490578.1:n.5076+47A>G
ENST00000637276.1:c.5070+47A>G	ENSP00000489777.1:n.5070+47A>G
ENST00000637297.1:c.363+47A>G	ENSP00000489692.1:n.363+47A>G
ENST00000637432.1:c.5085+47A>G	ENSP00000490617.1:n.5085+47A>G
ENST00000637736.1:c.4929+47A>G	ENSP00000489861.1:n.4929+47A>G
ENST00000637769.1:c.5070+47A>G	ENSP00000489778.1:n.5070+47A>G
ENST00000637777.1:c.327+47A>G
ENST00000637809.1:n.460+47A>G
ENST00000637819.1:c.471+47A>G	ENSP00000490686.1:n.471+47A>G
ENST00000637832.1:n.61+47A>G
ENST00000637927.1:c.5073+47A>G	ENSP00000489715.1:n.5073+47A>G
ENST00000638009.2:c.5070+47A>G	ENSP00000489913.1:n.5070+47A>G
ENST00000638029.1:c.5085+47A>G	ENSP00000489829.1:n.5085+47A>G
ENST00000664864.1:c.5271+47A>G	ENSP00000499449.1:n.5271+47A>G
ENST00000360228.9:c.5067+47A>G	ENSP00000353362.5:n.5067+47A>G
ENST00000573710.6:c.5070+47A>G	ENSP00000460092.2:n.5070+47A>G
ENST00000573891.5:c.486+47A>G
ENST00000574822.5:n.291+47A>G
ENST00000585802.5:c.1125+47A>G	ENSP00000465598.1:n.1125+47A>G
ENST00000587525.5:c.528+47A>G	ENSP00000467729.1:n.528+47A>G
ENST00000593267.1:n.272+47A>G
ENST00000614285.4:c.5085+47A>G	ENSP00000479983.1:n.5085+47A>G
NM_000068.3:c.5085+47A>G	NP_000059.3:n.5085+47A>G
NM_001127221.1:c.5070+47A>G , LRG_7t1:c.5070+47A>G	NP_001120693.1:n.5070+47A>G
NM_001127222.1:c.5067+47A>G	NP_001120694.1:n.5067+47A>G
NM_001174080.1:c.5076+47A>G	NP_001167551.1:n.5076+47A>G
NM_023035.2:c.5085+47A>G	NP_075461.2:n.5085+47A>G
NM_000068.4:c.5085+47A>G	NP_000059.3:n.5085+47A>G
NM_001127222.2:c.5067+47A>G MANE Select	NP_001120694.1:n.5067+47A>G
NM_001174080.2:c.5076+47A>G	NP_001167551.1:n.5076+47A>G
NM_023035.3:c.5085+47A>G	NP_075461.2:n.5085+47A>G
NM_001127221.2:c.5070+47A>G	NP_001120693.1:n.5070+47A>G