Canonical Allele Identifier: CA404336973

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13346510A>T (hg19) ; chr19:g.13235696A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235696A>T , CM000681.2:g.13235696A>T	GRCh38
NC_000019.9:g.13346510A>T , CM000681.1:g.13346510A>T	GRCh37
NC_000019.8:g.13207510A>T	NCBI36
NG_011569.1:g.275765T>A , LRG_7:g.275765T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4985T>A MANE Select	ENSP00000353362.5:p.Phe1662Tyr
ENST00000573710.7:c.4991T>A	ENSP00000460092.3:p.Phe1664Tyr
ENST00000573891.6:c.404T>A
ENST00000574822.6:n.209T>A
ENST00000585802.6:c.146T>A	ENSP00000465598.2:p.Phe49Tyr
ENST00000593267.2:n.190T>A
ENST00000635727.1:c.4988T>A	ENSP00000490001.1:p.Phe1663Tyr
ENST00000635742.1:n.974T>A
ENST00000635895.1:c.4988T>A	ENSP00000490323.1:p.Phe1663Tyr
ENST00000636012.1:c.4988T>A	ENSP00000490223.1:p.Phe1663Tyr
ENST00000636058.1:c.300T>A
ENST00000636389.1:c.4988T>A	ENSP00000489992.1:p.Phe1663Tyr
ENST00000636473.1:c.146T>A	ENSP00000490173.1:p.Phe49Tyr
ENST00000636549.1:c.4994T>A	ENSP00000490578.1:p.Phe1665Tyr
ENST00000637276.1:c.4988T>A	ENSP00000489777.1:p.Phe1663Tyr
ENST00000637297.1:c.281T>A	ENSP00000489692.1:p.Phe94Tyr
ENST00000637432.1:c.5003T>A	ENSP00000490617.1:p.Phe1668Tyr
ENST00000637736.1:c.4847T>A	ENSP00000489861.1:p.Phe1616Tyr
ENST00000637769.1:c.4988T>A	ENSP00000489778.1:p.Phe1663Tyr
ENST00000637777.1:c.245T>A
ENST00000637809.1:n.378T>A
ENST00000637819.1:c.389T>A	ENSP00000490686.1:p.Phe130Tyr
ENST00000637927.1:c.4991T>A	ENSP00000489715.1:p.Phe1664Tyr
ENST00000638009.2:c.4988T>A	ENSP00000489913.1:p.Phe1663Tyr
ENST00000638029.1:c.5003T>A	ENSP00000489829.1:p.Phe1668Tyr
ENST00000664864.1:c.5189T>A	ENSP00000499449.1:p.Phe1730Tyr
ENST00000360228.9:c.4985T>A	ENSP00000353362.5:p.Phe1662Tyr
ENST00000573710.6:c.4988T>A	ENSP00000460092.2:p.Phe1663Tyr
ENST00000573891.5:c.404T>A
ENST00000574822.5:n.209T>A
ENST00000585802.5:c.1043T>A	ENSP00000465598.1:p.Phe348Tyr
ENST00000587525.5:c.446T>A	ENSP00000467729.1:p.Phe149Tyr
ENST00000593267.1:n.190T>A
ENST00000614285.4:c.5003T>A	ENSP00000479983.1:p.Phe1668Tyr
NM_000068.3:c.5003T>A	NP_000059.3:p.Phe1668Tyr
NM_001127221.1:c.4988T>A , LRG_7t1:c.4988T>A	NP_001120693.1:p.Phe1663Tyr
NM_001127222.1:c.4985T>A	NP_001120694.1:p.Phe1662Tyr
NM_001174080.1:c.4994T>A	NP_001167551.1:p.Phe1665Tyr
NM_023035.2:c.5003T>A	NP_075461.2:p.Phe1668Tyr
NM_000068.4:c.5003T>A	NP_000059.3:p.Phe1668Tyr
NM_001127222.2:c.4985T>A MANE Select	NP_001120694.1:p.Phe1662Tyr
NM_001174080.2:c.4994T>A	NP_001167551.1:p.Phe1665Tyr
NM_023035.3:c.5003T>A	NP_075461.2:p.Phe1668Tyr
NM_001127221.2:c.4988T>A	NP_001120693.1:p.Phe1663Tyr