Canonical Allele Identifier: CA404336981

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13346511A>T (hg19) ; chr19:g.13235697A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235697A>T , CM000681.2:g.13235697A>T	GRCh38
NC_000019.9:g.13346511A>T , CM000681.1:g.13346511A>T	GRCh37
NC_000019.8:g.13207511A>T	NCBI36
NG_011569.1:g.275764T>A , LRG_7:g.275764T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4984T>A MANE Select	ENSP00000353362.5:p.Phe1662Ile
ENST00000573710.7:c.4990T>A	ENSP00000460092.3:p.Phe1664Ile
ENST00000573891.6:c.403T>A
ENST00000574822.6:n.208T>A
ENST00000585802.6:c.145T>A	ENSP00000465598.2:p.Phe49Ile
ENST00000593267.2:n.189T>A
ENST00000635727.1:c.4987T>A	ENSP00000490001.1:p.Phe1663Ile
ENST00000635742.1:n.973T>A
ENST00000635895.1:c.4987T>A	ENSP00000490323.1:p.Phe1663Ile
ENST00000636012.1:c.4987T>A	ENSP00000490223.1:p.Phe1663Ile
ENST00000636058.1:c.299T>A
ENST00000636389.1:c.4987T>A	ENSP00000489992.1:p.Phe1663Ile
ENST00000636473.1:c.145T>A	ENSP00000490173.1:p.Phe49Ile
ENST00000636549.1:c.4993T>A	ENSP00000490578.1:p.Phe1665Ile
ENST00000637276.1:c.4987T>A	ENSP00000489777.1:p.Phe1663Ile
ENST00000637297.1:c.280T>A	ENSP00000489692.1:p.Phe94Ile
ENST00000637432.1:c.5002T>A	ENSP00000490617.1:p.Phe1668Ile
ENST00000637736.1:c.4846T>A	ENSP00000489861.1:p.Phe1616Ile
ENST00000637769.1:c.4987T>A	ENSP00000489778.1:p.Phe1663Ile
ENST00000637777.1:c.244T>A
ENST00000637809.1:n.377T>A
ENST00000637819.1:c.388T>A	ENSP00000490686.1:p.Phe130Ile
ENST00000637927.1:c.4990T>A	ENSP00000489715.1:p.Phe1664Ile
ENST00000638009.2:c.4987T>A	ENSP00000489913.1:p.Phe1663Ile
ENST00000638029.1:c.5002T>A	ENSP00000489829.1:p.Phe1668Ile
ENST00000664864.1:c.5188T>A	ENSP00000499449.1:p.Phe1730Ile
ENST00000360228.9:c.4984T>A	ENSP00000353362.5:p.Phe1662Ile
ENST00000573710.6:c.4987T>A	ENSP00000460092.2:p.Phe1663Ile
ENST00000573891.5:c.403T>A
ENST00000574822.5:n.208T>A
ENST00000585802.5:c.1042T>A	ENSP00000465598.1:p.Phe348Ile
ENST00000587525.5:c.445T>A	ENSP00000467729.1:p.Phe149Ile
ENST00000593267.1:n.189T>A
ENST00000614285.4:c.5002T>A	ENSP00000479983.1:p.Phe1668Ile
NM_000068.3:c.5002T>A	NP_000059.3:p.Phe1668Ile
NM_001127221.1:c.4987T>A , LRG_7t1:c.4987T>A	NP_001120693.1:p.Phe1663Ile
NM_001127222.1:c.4984T>A	NP_001120694.1:p.Phe1662Ile
NM_001174080.1:c.4993T>A	NP_001167551.1:p.Phe1665Ile
NM_023035.2:c.5002T>A	NP_075461.2:p.Phe1668Ile
NM_000068.4:c.5002T>A	NP_000059.3:p.Phe1668Ile
NM_001127222.2:c.4984T>A MANE Select	NP_001120694.1:p.Phe1662Ile
NM_001174080.2:c.4993T>A	NP_001167551.1:p.Phe1665Ile
NM_023035.3:c.5002T>A	NP_075461.2:p.Phe1668Ile
NM_001127221.2:c.4987T>A	NP_001120693.1:p.Phe1663Ile