Canonical Allele Identifier: CA9239808

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235012C>T , CM000681.2:g.13235012C>T	GRCh38
NC_000019.9:g.13345826C>T , CM000681.1:g.13345826C>T	GRCh37
NC_000019.8:g.13206826C>T	NCBI36
NG_011569.1:g.276449G>A , LRG_7:g.276449G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5158G>A MANE Select	NP_001120694.1:p.Val1720Met
ENST00000360228.11:c.5158G>A MANE Select	ENSP00000353362.5:p.Val1720Met
NM_000068.3:c.5176G>A	NP_000059.3:p.Val1726Met
NM_000068.4:c.5176G>A	NP_000059.3:p.Val1726Met
NM_001127221.1:c.5161G>A , LRG_7t1:c.5161G>A	NP_001120693.1:p.Val1721Met
NM_001127221.2:c.5161G>A	NP_001120693.1:p.Val1721Met
NM_001127222.1:c.5158G>A	NP_001120694.1:p.Val1720Met
NM_001174080.1:c.5167G>A	NP_001167551.1:p.Val1723Met
NM_001174080.2:c.5167G>A	NP_001167551.1:p.Val1723Met
NM_023035.2:c.5176G>A	NP_075461.2:p.Val1726Met
NM_023035.3:c.5176G>A	NP_075461.2:p.Val1726Met
ENST00000360228.9:c.5158G>A	ENSP00000353362.5:p.Val1720Met
ENST00000573710.6:c.5161G>A	ENSP00000460092.2:p.Val1721Met
ENST00000573710.7:c.5164G>A	ENSP00000460092.3:p.Val1722Met
ENST00000573891.5:c.577G>A
ENST00000573891.6:c.577G>A
ENST00000574822.5:n.382G>A
ENST00000574822.6:n.382G>A
ENST00000585802.5:c.1216G>A	ENSP00000465598.1:p.Val406Met
ENST00000585802.6:c.319G>A	ENSP00000465598.2:p.Val107Met
ENST00000587525.5:c.619G>A	ENSP00000467729.1:p.Val207Met
ENST00000593267.1:n.363G>A
ENST00000593267.2:n.363G>A
ENST00000614285.4:c.5176G>A	ENSP00000479983.1:p.Val1726Met
ENST00000635727.1:c.5161G>A	ENSP00000490001.1:p.Val1721Met
ENST00000635742.1:n.1147G>A
ENST00000635895.1:c.5161G>A	ENSP00000490323.1:p.Val1721Met
ENST00000636012.1:c.5161G>A	ENSP00000490223.1:p.Val1721Met
ENST00000636058.1:c.473G>A
ENST00000636389.1:c.5161G>A	ENSP00000489992.1:p.Val1721Met
ENST00000636473.1:c.253G>A	ENSP00000490173.1:p.Val85Met
ENST00000636549.1:c.5167G>A	ENSP00000490578.1:p.Val1723Met
ENST00000637276.1:c.5161G>A	ENSP00000489777.1:p.Val1721Met
ENST00000637297.1:c.454G>A	ENSP00000489692.1:p.Val152Met
ENST00000637432.1:c.5176G>A	ENSP00000490617.1:p.Val1726Met
ENST00000637736.1:c.5020G>A	ENSP00000489861.1:p.Val1674Met
ENST00000637769.1:c.5161G>A	ENSP00000489778.1:p.Val1721Met
ENST00000637777.1:c.352G>A
ENST00000637809.1:n.551G>A
ENST00000637819.1:c.562G>A	ENSP00000490686.1:p.Val188Met
ENST00000637832.1:n.152G>A
ENST00000637927.1:c.5164G>A	ENSP00000489715.1:p.Val1722Met
ENST00000638009.2:c.5161G>A	ENSP00000489913.1:p.Val1721Met
ENST00000638029.1:c.5176G>A	ENSP00000489829.1:p.Val1726Met
ENST00000664864.1:c.5362G>A	ENSP00000499449.1:p.Val1788Met