Canonical Allele Identifier: CA254457

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 8500
• ClinVar RCV Id: RCV000009023
• dbSNP Id: rs121908226
• MyVariant Identifiers: chr19:g.13342661C>T (hg19) ; chr19:g.13231847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231847C>T , CM000681.2:g.13231847C>T	GRCh38
NC_000019.9:g.13342661C>T , CM000681.1:g.13342661C>T	GRCh37
NC_000019.8:g.13203661C>T	NCBI36
NG_011569.1:g.279614G>A , LRG_7:g.279614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5263G>A MANE Select	ENSP00000353362.5:p.Glu1755Lys
ENST00000573710.7:c.5269G>A	ENSP00000460092.3:p.Glu1757Lys
ENST00000573891.6:c.682G>A
ENST00000574822.6:n.487G>A
ENST00000585802.6:c.424G>A	ENSP00000465598.2:p.Glu142Lys
ENST00000635727.1:c.5266G>A	ENSP00000490001.1:p.Glu1756Lys
ENST00000635742.1:n.1252G>A
ENST00000635895.1:c.5266G>A	ENSP00000490323.1:p.Glu1756Lys
ENST00000636012.1:c.5266G>A	ENSP00000490223.1:p.Glu1756Lys
ENST00000636058.1:c.578G>A
ENST00000636389.1:c.5266G>A	ENSP00000489992.1:p.Glu1756Lys
ENST00000636473.1:c.358G>A	ENSP00000490173.1:p.Glu120Lys
ENST00000636549.1:c.5272G>A	ENSP00000490578.1:p.Glu1758Lys
ENST00000637276.1:c.5266G>A	ENSP00000489777.1:p.Glu1756Lys
ENST00000637297.1:c.559G>A	ENSP00000489692.1:p.Glu187Lys
ENST00000637432.1:c.5281G>A	ENSP00000490617.1:p.Glu1761Lys
ENST00000637736.1:c.5125G>A	ENSP00000489861.1:p.Glu1709Lys
ENST00000637769.1:c.5266G>A	ENSP00000489778.1:p.Glu1756Lys
ENST00000637777.1:c.457G>A
ENST00000637809.1:n.656G>A
ENST00000637819.1:c.667G>A	ENSP00000490686.1:p.Glu223Lys
ENST00000637832.1:n.257G>A
ENST00000637927.1:c.5269G>A	ENSP00000489715.1:p.Glu1757Lys
ENST00000638009.2:c.5266G>A	ENSP00000489913.1:p.Glu1756Lys
ENST00000638029.1:c.5281G>A	ENSP00000489829.1:p.Glu1761Lys
ENST00000664864.1:c.5467G>A	ENSP00000499449.1:p.Glu1823Lys
ENST00000360228.9:c.5263G>A	ENSP00000353362.5:p.Glu1755Lys
ENST00000573710.6:c.5266G>A	ENSP00000460092.2:p.Glu1756Lys
ENST00000573891.5:c.682G>A
ENST00000574822.5:n.487G>A
ENST00000585802.5:c.1321G>A	ENSP00000465598.1:p.Glu441Lys
ENST00000587525.5:c.724G>A	ENSP00000467729.1:p.Glu242Lys
ENST00000614285.4:c.5281G>A	ENSP00000479983.1:p.Glu1761Lys
NM_000068.3:c.5281G>A	NP_000059.3:p.Glu1761Lys
NM_001127221.1:c.5266G>A , LRG_7t1:c.5266G>A	NP_001120693.1:p.Glu1756Lys
NM_001127222.1:c.5263G>A	NP_001120694.1:p.Glu1755Lys
NM_001174080.1:c.5272G>A	NP_001167551.1:p.Glu1758Lys
NM_023035.2:c.5281G>A	NP_075461.2:p.Glu1761Lys
NM_000068.4:c.5281G>A	NP_000059.3:p.Glu1761Lys
NM_001127222.2:c.5263G>A MANE Select	NP_001120694.1:p.Glu1755Lys
NM_001174080.2:c.5272G>A	NP_001167551.1:p.Glu1758Lys
NM_023035.3:c.5281G>A	NP_075461.2:p.Glu1761Lys
NM_001127221.2:c.5266G>A	NP_001120693.1:p.Glu1756Lys