Canonical Allele Identifier: CA9239936

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13253105G>A , CM000681.2:g.13253105G>A	GRCh38
NC_000019.9:g.13363919G>A , CM000681.1:g.13363919G>A	GRCh37
NC_000019.8:g.13224919G>A	NCBI36
NG_011569.1:g.258356C>T , LRG_7:g.258356C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.4756-4C>T MANE Select	NP_001120694.1:n.4756-4C>T
ENST00000360228.11:c.4756-4C>T MANE Select	ENSP00000353362.5:n.4756-4C>T
NM_000068.3:c.4768-4C>T	NP_000059.3:n.4768-4C>T
NM_000068.4:c.4768-4C>T	NP_000059.3:n.4768-4C>T
NM_001127221.1:c.4759-4C>T , LRG_7t1:c.4759-4C>T	NP_001120693.1:n.4759-4C>T
NM_001127221.2:c.4759-4C>T	NP_001120693.1:n.4759-4C>T
NM_001127222.1:c.4756-4C>T	NP_001120694.1:n.4756-4C>T
NM_001174080.1:c.4759-4C>T	NP_001167551.1:n.4759-4C>T
NM_001174080.2:c.4759-4C>T	NP_001167551.1:n.4759-4C>T
NM_023035.2:c.4768-4C>T	NP_075461.2:n.4768-4C>T
NM_023035.3:c.4768-4C>T	NP_075461.2:n.4768-4C>T
ENST00000360228.9:c.4756-4C>T	ENSP00000353362.5:n.4756-4C>T
ENST00000573710.6:c.4759-4C>T	ENSP00000460092.2:n.4759-4C>T
ENST00000573710.7:c.4762-4C>T	ENSP00000460092.3:n.4762-4C>T
ENST00000573891.5:c.5-4C>T
ENST00000573891.6:c.5-4C>T
ENST00000585802.5:c.814-4C>T	ENSP00000465598.1:n.814-4C>T
ENST00000587525.5:c.217-4C>T	ENSP00000467729.1:n.217-4C>T
ENST00000614285.4:c.4768-4C>T	ENSP00000479983.1:n.4768-4C>T
ENST00000635727.1:c.4759-4C>T	ENSP00000490001.1:n.4759-4C>T
ENST00000635742.1:n.745-4C>T
ENST00000635895.1:c.4759-4C>T	ENSP00000490323.1:n.4759-4C>T
ENST00000635917.1:n.1248-4C>T
ENST00000636012.1:c.4759-4C>T	ENSP00000490223.1:n.4759-4C>T
ENST00000636389.1:c.4759-4C>T	ENSP00000489992.1:n.4759-4C>T
ENST00000636549.1:c.4759-4C>T	ENSP00000490578.1:n.4759-4C>T
ENST00000636816.1:n.1444-4C>T
ENST00000637004.1:n.1222-4C>T
ENST00000637276.1:c.4759-4C>T	ENSP00000489777.1:n.4759-4C>T
ENST00000637297.1:c.246+4245C>T	ENSP00000489692.1:n.246+4245C>T
ENST00000637432.1:c.4768-4C>T	ENSP00000490617.1:n.4768-4C>T
ENST00000637692.1:n.1078-4C>T
ENST00000637736.1:c.4618-4C>T	ENSP00000489861.1:n.4618-4C>T
ENST00000637769.1:c.4759-4C>T	ENSP00000489778.1:n.4759-4C>T
ENST00000637819.1:c.154-4C>T	ENSP00000490686.1:n.154-4C>T
ENST00000637927.1:c.4762-4C>T	ENSP00000489715.1:n.4762-4C>T
ENST00000638009.2:c.4759-4C>T	ENSP00000489913.1:n.4759-4C>T
ENST00000638029.1:c.4768-4C>T	ENSP00000489829.1:n.4768-4C>T
ENST00000664864.1:c.4954-4C>T	ENSP00000499449.1:n.4954-4C>T