Canonical Allele Identifier: CA404339222

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13370390T>A (hg19) ; chr19:g.13259576T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13259576T>A , CM000681.2:g.13259576T>A	GRCh38
NC_000019.9:g.13370390T>A , CM000681.1:g.13370390T>A	GRCh37
NC_000019.8:g.13231390T>A	NCBI36
NG_011569.1:g.251885A>T , LRG_7:g.251885A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4376A>T MANE Select	ENSP00000353362.5:p.Glu1459Val
ENST00000573710.7:c.4382A>T	ENSP00000460092.3:p.Glu1461Val
ENST00000590205.2:n.3130A>T
ENST00000635727.1:c.4379A>T	ENSP00000490001.1:p.Glu1460Val
ENST00000635742.1:n.365A>T
ENST00000635895.1:c.4379A>T	ENSP00000490323.1:p.Glu1460Val
ENST00000635917.1:n.868A>T
ENST00000636012.1:c.4379A>T	ENSP00000490223.1:p.Glu1460Val
ENST00000636389.1:c.4379A>T	ENSP00000489992.1:p.Glu1460Val
ENST00000636549.1:c.4379A>T	ENSP00000490578.1:p.Glu1460Val
ENST00000636816.1:n.1064A>T
ENST00000636984.1:n.659A>T
ENST00000637004.1:n.842A>T
ENST00000637276.1:c.4379A>T	ENSP00000489777.1:p.Glu1460Val
ENST00000637297.1:c.32A>T	ENSP00000489692.1:p.Glu11Val
ENST00000637432.1:c.4388A>T	ENSP00000490617.1:p.Glu1463Val
ENST00000637692.1:n.698A>T
ENST00000637736.1:c.4238A>T	ENSP00000489861.1:p.Glu1413Val
ENST00000637769.1:c.4379A>T	ENSP00000489778.1:p.Glu1460Val
ENST00000637927.1:c.4382A>T	ENSP00000489715.1:p.Glu1461Val
ENST00000638009.2:c.4379A>T	ENSP00000489913.1:p.Glu1460Val
ENST00000638029.1:c.4388A>T	ENSP00000489829.1:p.Glu1463Val
ENST00000664864.1:c.4574A>T	ENSP00000499449.1:p.Glu1525Val
ENST00000360228.9:c.4376A>T	ENSP00000353362.5:p.Glu1459Val
ENST00000573710.6:c.4379A>T	ENSP00000460092.2:p.Glu1460Val
ENST00000585802.5:c.434A>T	ENSP00000465598.1:p.Glu145Val
ENST00000614285.4:c.4388A>T	ENSP00000479983.1:p.Glu1463Val
NM_000068.3:c.4388A>T	NP_000059.3:p.Glu1463Val
NM_001127221.1:c.4379A>T , LRG_7t1:c.4379A>T	NP_001120693.1:p.Glu1460Val
NM_001127222.1:c.4376A>T	NP_001120694.1:p.Glu1459Val
NM_001174080.1:c.4379A>T	NP_001167551.1:p.Glu1460Val
NM_023035.2:c.4388A>T	NP_075461.2:p.Glu1463Val
NM_000068.4:c.4388A>T	NP_000059.3:p.Glu1463Val
NM_001127222.2:c.4376A>T MANE Select	NP_001120694.1:p.Glu1459Val
NM_001174080.2:c.4379A>T	NP_001167551.1:p.Glu1460Val
NM_023035.3:c.4388A>T	NP_075461.2:p.Glu1463Val
NM_001127221.2:c.4379A>T	NP_001120693.1:p.Glu1460Val