Canonical Allele Identifier: CA404337849

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13245181C>A , CM000681.2:g.13245181C>A	GRCh38
NC_000019.9:g.13355995C>A , CM000681.1:g.13355995C>A	GRCh37
NC_000019.8:g.13216995C>A	NCBI36
NG_011569.1:g.266280G>T , LRG_7:g.266280G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.4950+1G>T MANE Select	NP_001120694.1:n.4950+1G>T
ENST00000360228.11:c.4950+1G>T MANE Select	ENSP00000353362.5:n.4950+1G>T
NM_000068.3:c.4962+1G>T	NP_000059.3:n.4962+1G>T
NM_000068.4:c.4962+1G>T	NP_000059.3:n.4962+1G>T
NM_001127221.1:c.4953+1G>T , LRG_7t1:c.4953+1G>T	NP_001120693.1:n.4953+1G>T
NM_001127221.2:c.4953+1G>T	NP_001120693.1:n.4953+1G>T
NM_001127222.1:c.4950+1G>T	NP_001120694.1:n.4950+1G>T
NM_001174080.1:c.4953+1G>T	NP_001167551.1:n.4953+1G>T
NM_001174080.2:c.4953+1G>T	NP_001167551.1:n.4953+1G>T
NM_023035.2:c.4962+1G>T	NP_075461.2:n.4962+1G>T
NM_023035.3:c.4962+1G>T	NP_075461.2:n.4962+1G>T
ENST00000360228.9:c.4950+1G>T	ENSP00000353362.5:n.4950+1G>T
ENST00000573710.6:c.4953+1G>T	ENSP00000460092.2:n.4953+1G>T
ENST00000573710.7:c.4956+1G>T	ENSP00000460092.3:n.4956+1G>T
ENST00000573891.5:c.199+1G>T
ENST00000573891.6:c.199+1G>T
ENST00000574822.5:n.174+1G>T
ENST00000574822.6:n.174+1G>T
ENST00000585802.5:c.1008+1G>T	ENSP00000465598.1:n.1008+1G>T
ENST00000585802.6:c.105+1G>T	ENSP00000465598.2:n.105+1G>T
ENST00000587525.5:c.411+1G>T	ENSP00000467729.1:n.411+1G>T
ENST00000614285.4:c.4962+1G>T	ENSP00000479983.1:n.4962+1G>T
ENST00000635727.1:c.4953+1G>T	ENSP00000490001.1:n.4953+1G>T
ENST00000635742.1:n.939+1G>T
ENST00000635895.1:c.4953+1G>T	ENSP00000490323.1:n.4953+1G>T
ENST00000636012.1:c.4953+1G>T	ENSP00000490223.1:n.4953+1G>T
ENST00000636058.1:c.89+1G>T
ENST00000636389.1:c.4953+1G>T	ENSP00000489992.1:n.4953+1G>T
ENST00000636473.1:c.105+1G>T	ENSP00000490173.1:n.105+1G>T
ENST00000636549.1:c.4953+1G>T	ENSP00000490578.1:n.4953+1G>T
ENST00000637004.1:n.1417G>T
ENST00000637276.1:c.4953+1G>T	ENSP00000489777.1:n.4953+1G>T
ENST00000637297.1:c.247-9451G>T	ENSP00000489692.1:n.247-9451G>T
ENST00000637432.1:c.4962+1G>T	ENSP00000490617.1:n.4962+1G>T
ENST00000637475.1:n.465G>T
ENST00000637736.1:c.4812+1G>T	ENSP00000489861.1:n.4812+1G>T
ENST00000637769.1:c.4953+1G>T	ENSP00000489778.1:n.4953+1G>T
ENST00000637777.1:c.34+1G>T
ENST00000637809.1:n.337+1G>T
ENST00000637819.1:c.348+1G>T	ENSP00000490686.1:n.348+1G>T
ENST00000637927.1:c.4956+1G>T	ENSP00000489715.1:n.4956+1G>T
ENST00000638009.2:c.4953+1G>T	ENSP00000489913.1:n.4953+1G>T
ENST00000638029.1:c.4962+1G>T	ENSP00000489829.1:n.4962+1G>T
ENST00000664864.1:c.5148+1G>T	ENSP00000499449.1:n.5148+1G>T