Canonical Allele Identifier: CA404334539

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231775G>A , CM000681.2:g.13231775G>A	GRCh38
NC_000019.9:g.13342589G>A , CM000681.1:g.13342589G>A	GRCh37
NC_000019.8:g.13203589G>A	NCBI36
NG_011569.1:g.279686C>T , LRG_7:g.279686C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5335C>T MANE Select	NP_001120694.1:p.Arg1779Ter
ENST00000360228.11:c.5335C>T MANE Select	ENSP00000353362.5:p.Arg1779Ter
NM_000068.3:c.5353C>T	NP_000059.3:p.Arg1785Ter
NM_000068.4:c.5353C>T	NP_000059.3:p.Arg1785Ter
NM_001127221.1:c.5338C>T , LRG_7t1:c.5338C>T	NP_001120693.1:p.Arg1780Ter
NM_001127221.2:c.5338C>T	NP_001120693.1:p.Arg1780Ter
NM_001127222.1:c.5335C>T	NP_001120694.1:p.Arg1779Ter
NM_001174080.1:c.5344C>T	NP_001167551.1:p.Arg1782Ter
NM_001174080.2:c.5344C>T	NP_001167551.1:p.Arg1782Ter
NM_023035.2:c.5353C>T	NP_075461.2:p.Arg1785Ter
NM_023035.3:c.5353C>T	NP_075461.2:p.Arg1785Ter
ENST00000360228.9:c.5335C>T	ENSP00000353362.5:p.Arg1779Ter
ENST00000573710.6:c.5338C>T	ENSP00000460092.2:p.Arg1780Ter
ENST00000573710.7:c.5341C>T	ENSP00000460092.3:p.Arg1781Ter
ENST00000573891.5:c.754C>T
ENST00000573891.6:c.754C>T
ENST00000574822.5:n.559C>T
ENST00000574822.6:n.559C>T
ENST00000585802.5:c.1393C>T	ENSP00000465598.1:p.Arg465Ter
ENST00000585802.6:c.496C>T	ENSP00000465598.2:p.Arg166Ter
ENST00000587525.5:c.796C>T	ENSP00000467729.1:p.Arg266Ter
ENST00000614285.4:c.5353C>T	ENSP00000479983.1:p.Arg1785Ter
ENST00000635727.1:c.5338C>T	ENSP00000490001.1:p.Arg1780Ter
ENST00000635742.1:n.1324C>T
ENST00000635895.1:c.5338C>T	ENSP00000490323.1:p.Arg1780Ter
ENST00000636012.1:c.5338C>T	ENSP00000490223.1:p.Arg1780Ter
ENST00000636058.1:c.650C>T
ENST00000636389.1:c.5338C>T	ENSP00000489992.1:p.Arg1780Ter
ENST00000636473.1:c.430C>T	ENSP00000490173.1:p.Arg144Ter
ENST00000636549.1:c.5344C>T	ENSP00000490578.1:p.Arg1782Ter
ENST00000637276.1:c.5338C>T	ENSP00000489777.1:p.Arg1780Ter
ENST00000637297.1:c.631C>T	ENSP00000489692.1:p.Arg211Ter
ENST00000637432.1:c.5353C>T	ENSP00000490617.1:p.Arg1785Ter
ENST00000637736.1:c.5197C>T	ENSP00000489861.1:p.Arg1733Ter
ENST00000637769.1:c.5338C>T	ENSP00000489778.1:p.Arg1780Ter
ENST00000637777.1:c.529C>T
ENST00000637809.1:n.728C>T
ENST00000637819.1:c.739C>T	ENSP00000490686.1:p.Arg247Ter
ENST00000637832.1:n.329C>T
ENST00000637927.1:c.5341C>T	ENSP00000489715.1:p.Arg1781Ter
ENST00000638009.2:c.5338C>T	ENSP00000489913.1:p.Arg1780Ter
ENST00000638029.1:c.5353C>T	ENSP00000489829.1:p.Arg1785Ter
ENST00000664864.1:c.5539C>T	ENSP00000499449.1:p.Arg1847Ter