Canonical Allele Identifier: CA404335752

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13345838T>A (hg19) ; chr19:g.13235024T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235024T>A , CM000681.2:g.13235024T>A	GRCh38
NC_000019.9:g.13345838T>A , CM000681.1:g.13345838T>A	GRCh37
NC_000019.8:g.13206838T>A	NCBI36
NG_011569.1:g.276437A>T , LRG_7:g.276437A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5146A>T MANE Select	ENSP00000353362.5:p.Ile1716Phe
ENST00000573710.7:c.5152A>T	ENSP00000460092.3:p.Ile1718Phe
ENST00000573891.6:c.565A>T
ENST00000574822.6:n.370A>T
ENST00000585802.6:c.307A>T	ENSP00000465598.2:p.Ile103Phe
ENST00000593267.2:n.351A>T
ENST00000635727.1:c.5149A>T	ENSP00000490001.1:p.Ile1717Phe
ENST00000635742.1:n.1135A>T
ENST00000635895.1:c.5149A>T	ENSP00000490323.1:p.Ile1717Phe
ENST00000636012.1:c.5149A>T	ENSP00000490223.1:p.Ile1717Phe
ENST00000636058.1:c.461A>T
ENST00000636389.1:c.5149A>T	ENSP00000489992.1:p.Ile1717Phe
ENST00000636473.1:c.241A>T	ENSP00000490173.1:p.Ile81Phe
ENST00000636549.1:c.5155A>T	ENSP00000490578.1:p.Ile1719Phe
ENST00000637276.1:c.5149A>T	ENSP00000489777.1:p.Ile1717Phe
ENST00000637297.1:c.442A>T	ENSP00000489692.1:p.Ile148Phe
ENST00000637432.1:c.5164A>T	ENSP00000490617.1:p.Ile1722Phe
ENST00000637736.1:c.5008A>T	ENSP00000489861.1:p.Ile1670Phe
ENST00000637769.1:c.5149A>T	ENSP00000489778.1:p.Ile1717Phe
ENST00000637777.1:c.340A>T
ENST00000637809.1:n.539A>T
ENST00000637819.1:c.550A>T	ENSP00000490686.1:p.Ile184Phe
ENST00000637832.1:n.140A>T
ENST00000637927.1:c.5152A>T	ENSP00000489715.1:p.Ile1718Phe
ENST00000638009.2:c.5149A>T	ENSP00000489913.1:p.Ile1717Phe
ENST00000638029.1:c.5164A>T	ENSP00000489829.1:p.Ile1722Phe
ENST00000664864.1:c.5350A>T	ENSP00000499449.1:p.Ile1784Phe
ENST00000360228.9:c.5146A>T	ENSP00000353362.5:p.Ile1716Phe
ENST00000573710.6:c.5149A>T	ENSP00000460092.2:p.Ile1717Phe
ENST00000573891.5:c.565A>T
ENST00000574822.5:n.370A>T
ENST00000585802.5:c.1204A>T	ENSP00000465598.1:p.Ile402Phe
ENST00000587525.5:c.607A>T	ENSP00000467729.1:p.Ile203Phe
ENST00000593267.1:n.351A>T
ENST00000614285.4:c.5164A>T	ENSP00000479983.1:p.Ile1722Phe
NM_000068.3:c.5164A>T	NP_000059.3:p.Ile1722Phe
NM_001127221.1:c.5149A>T , LRG_7t1:c.5149A>T	NP_001120693.1:p.Ile1717Phe
NM_001127222.1:c.5146A>T	NP_001120694.1:p.Ile1716Phe
NM_001174080.1:c.5155A>T	NP_001167551.1:p.Ile1719Phe
NM_023035.2:c.5164A>T	NP_075461.2:p.Ile1722Phe
NM_000068.4:c.5164A>T	NP_000059.3:p.Ile1722Phe
NM_001127222.2:c.5146A>T MANE Select	NP_001120694.1:p.Ile1716Phe
NM_001174080.2:c.5155A>T	NP_001167551.1:p.Ile1719Phe
NM_023035.3:c.5164A>T	NP_075461.2:p.Ile1722Phe
NM_001127221.2:c.5149A>T	NP_001120693.1:p.Ile1717Phe