Canonical Allele Identifier: CA9239759

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231774C>T , CM000681.2:g.13231774C>T	GRCh38
NC_000019.9:g.13342588C>T , CM000681.1:g.13342588C>T	GRCh37
NC_000019.8:g.13203588C>T	NCBI36
NG_011569.1:g.279687G>A , LRG_7:g.279687G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5336G>A MANE Select	NP_001120694.1:p.Arg1779Gln
ENST00000360228.11:c.5336G>A MANE Select	ENSP00000353362.5:p.Arg1779Gln
NM_000068.3:c.5354G>A	NP_000059.3:p.Arg1785Gln
NM_000068.4:c.5354G>A	NP_000059.3:p.Arg1785Gln
NM_001127221.1:c.5339G>A , LRG_7t1:c.5339G>A	NP_001120693.1:p.Arg1780Gln
NM_001127221.2:c.5339G>A	NP_001120693.1:p.Arg1780Gln
NM_001127222.1:c.5336G>A	NP_001120694.1:p.Arg1779Gln
NM_001174080.1:c.5345G>A	NP_001167551.1:p.Arg1782Gln
NM_001174080.2:c.5345G>A	NP_001167551.1:p.Arg1782Gln
NM_023035.2:c.5354G>A	NP_075461.2:p.Arg1785Gln
NM_023035.3:c.5354G>A	NP_075461.2:p.Arg1785Gln
ENST00000360228.9:c.5336G>A	ENSP00000353362.5:p.Arg1779Gln
ENST00000573710.6:c.5339G>A	ENSP00000460092.2:p.Arg1780Gln
ENST00000573710.7:c.5342G>A	ENSP00000460092.3:p.Arg1781Gln
ENST00000573891.5:c.755G>A
ENST00000573891.6:c.755G>A
ENST00000574822.5:n.560G>A
ENST00000574822.6:n.560G>A
ENST00000585802.5:c.1394G>A	ENSP00000465598.1:p.Arg465Gln
ENST00000585802.6:c.497G>A	ENSP00000465598.2:p.Arg166Gln
ENST00000587525.5:c.797G>A	ENSP00000467729.1:p.Arg266Gln
ENST00000614285.4:c.5354G>A	ENSP00000479983.1:p.Arg1785Gln
ENST00000635727.1:c.5339G>A	ENSP00000490001.1:p.Arg1780Gln
ENST00000635742.1:n.1325G>A
ENST00000635895.1:c.5339G>A	ENSP00000490323.1:p.Arg1780Gln
ENST00000636012.1:c.5339G>A	ENSP00000490223.1:p.Arg1780Gln
ENST00000636058.1:c.651G>A
ENST00000636389.1:c.5339G>A	ENSP00000489992.1:p.Arg1780Gln
ENST00000636473.1:c.431G>A	ENSP00000490173.1:p.Arg144Gln
ENST00000636549.1:c.5345G>A	ENSP00000490578.1:p.Arg1782Gln
ENST00000637276.1:c.5339G>A	ENSP00000489777.1:p.Arg1780Gln
ENST00000637297.1:c.632G>A	ENSP00000489692.1:p.Arg211Gln
ENST00000637432.1:c.5354G>A	ENSP00000490617.1:p.Arg1785Gln
ENST00000637736.1:c.5198G>A	ENSP00000489861.1:p.Arg1733Gln
ENST00000637769.1:c.5339G>A	ENSP00000489778.1:p.Arg1780Gln
ENST00000637777.1:c.530G>A
ENST00000637809.1:n.729G>A
ENST00000637819.1:c.740G>A	ENSP00000490686.1:p.Arg247Gln
ENST00000637832.1:n.330G>A
ENST00000637927.1:c.5342G>A	ENSP00000489715.1:p.Arg1781Gln
ENST00000638009.2:c.5339G>A	ENSP00000489913.1:p.Arg1780Gln
ENST00000638029.1:c.5354G>A	ENSP00000489829.1:p.Arg1785Gln
ENST00000664864.1:c.5540G>A	ENSP00000499449.1:p.Arg1847Gln