Canonical Allele Identifier: CA404334881

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13342657G>T (hg19) ; chr19:g.13231843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231843G>T , CM000681.2:g.13231843G>T	GRCh38
NC_000019.9:g.13342657G>T , CM000681.1:g.13342657G>T	GRCh37
NC_000019.8:g.13203657G>T	NCBI36
NG_011569.1:g.279618C>A , LRG_7:g.279618C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5267C>A MANE Select	ENSP00000353362.5:p.Ala1756Asp
ENST00000573710.7:c.5273C>A	ENSP00000460092.3:p.Ala1758Asp
ENST00000573891.6:c.686C>A
ENST00000574822.6:n.491C>A
ENST00000585802.6:c.428C>A	ENSP00000465598.2:p.Ala143Asp
ENST00000635727.1:c.5270C>A	ENSP00000490001.1:p.Ala1757Asp
ENST00000635742.1:n.1256C>A
ENST00000635895.1:c.5270C>A	ENSP00000490323.1:p.Ala1757Asp
ENST00000636012.1:c.5270C>A	ENSP00000490223.1:p.Ala1757Asp
ENST00000636058.1:c.582C>A
ENST00000636389.1:c.5270C>A	ENSP00000489992.1:p.Ala1757Asp
ENST00000636473.1:c.362C>A	ENSP00000490173.1:p.Ala121Asp
ENST00000636549.1:c.5276C>A	ENSP00000490578.1:p.Ala1759Asp
ENST00000637276.1:c.5270C>A	ENSP00000489777.1:p.Ala1757Asp
ENST00000637297.1:c.563C>A	ENSP00000489692.1:p.Ala188Asp
ENST00000637432.1:c.5285C>A	ENSP00000490617.1:p.Ala1762Asp
ENST00000637736.1:c.5129C>A	ENSP00000489861.1:p.Ala1710Asp
ENST00000637769.1:c.5270C>A	ENSP00000489778.1:p.Ala1757Asp
ENST00000637777.1:c.461C>A
ENST00000637809.1:n.660C>A
ENST00000637819.1:c.671C>A	ENSP00000490686.1:p.Ala224Asp
ENST00000637832.1:n.261C>A
ENST00000637927.1:c.5273C>A	ENSP00000489715.1:p.Ala1758Asp
ENST00000638009.2:c.5270C>A	ENSP00000489913.1:p.Ala1757Asp
ENST00000638029.1:c.5285C>A	ENSP00000489829.1:p.Ala1762Asp
ENST00000664864.1:c.5471C>A	ENSP00000499449.1:p.Ala1824Asp
ENST00000360228.9:c.5267C>A	ENSP00000353362.5:p.Ala1756Asp
ENST00000573710.6:c.5270C>A	ENSP00000460092.2:p.Ala1757Asp
ENST00000573891.5:c.686C>A
ENST00000574822.5:n.491C>A
ENST00000585802.5:c.1325C>A	ENSP00000465598.1:p.Ala442Asp
ENST00000587525.5:c.728C>A	ENSP00000467729.1:p.Ala243Asp
ENST00000614285.4:c.5285C>A	ENSP00000479983.1:p.Ala1762Asp
NM_000068.3:c.5285C>A	NP_000059.3:p.Ala1762Asp
NM_001127221.1:c.5270C>A , LRG_7t1:c.5270C>A	NP_001120693.1:p.Ala1757Asp
NM_001127222.1:c.5267C>A	NP_001120694.1:p.Ala1756Asp
NM_001174080.1:c.5276C>A	NP_001167551.1:p.Ala1759Asp
NM_023035.2:c.5285C>A	NP_075461.2:p.Ala1762Asp
NM_000068.4:c.5285C>A	NP_000059.3:p.Ala1762Asp
NM_001127222.2:c.5267C>A MANE Select	NP_001120694.1:p.Ala1756Asp
NM_001174080.2:c.5276C>A	NP_001167551.1:p.Ala1759Asp
NM_023035.3:c.5285C>A	NP_075461.2:p.Ala1762Asp
NM_001127221.2:c.5270C>A	NP_001120693.1:p.Ala1757Asp