Canonical Allele Identifier: CA404335832

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 1723744
• ClinVar RCV Id: RCV002306305
• gnomAD v4: 19-13235225-G-A
• MyVariant Identifiers: chr19:g.13346039G>A (hg19) ; chr19:g.13235225G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235225G>A , CM000681.2:g.13235225G>A	GRCh38
NC_000019.9:g.13346039G>A , CM000681.1:g.13346039G>A	GRCh37
NC_000019.8:g.13207039G>A	NCBI36
NG_011569.1:g.276236C>T , LRG_7:g.276236C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5117C>T MANE Select	ENSP00000353362.5:p.Ala1706Val
ENST00000573710.7:c.5123C>T	ENSP00000460092.3:p.Ala1708Val
ENST00000573891.6:c.536C>T
ENST00000574822.6:n.341C>T
ENST00000585802.6:c.278C>T	ENSP00000465598.2:p.Ala93Val
ENST00000593267.2:n.322C>T
ENST00000635727.1:c.5120C>T	ENSP00000490001.1:p.Ala1707Val
ENST00000635742.1:n.1106C>T
ENST00000635895.1:c.5120C>T	ENSP00000490323.1:p.Ala1707Val
ENST00000636012.1:c.5120C>T	ENSP00000490223.1:p.Ala1707Val
ENST00000636058.1:c.432C>T
ENST00000636389.1:c.5120C>T	ENSP00000489992.1:p.Ala1707Val
ENST00000636473.1:c.229-189C>T	ENSP00000490173.1:n.229-189C>T
ENST00000636549.1:c.5126C>T	ENSP00000490578.1:p.Ala1709Val
ENST00000637276.1:c.5120C>T	ENSP00000489777.1:p.Ala1707Val
ENST00000637297.1:c.413C>T	ENSP00000489692.1:p.Ala138Val
ENST00000637432.1:c.5135C>T	ENSP00000490617.1:p.Ala1712Val
ENST00000637736.1:c.4979C>T	ENSP00000489861.1:p.Ala1660Val
ENST00000637769.1:c.5120C>T	ENSP00000489778.1:p.Ala1707Val
ENST00000637777.1:c.328-189C>T
ENST00000637809.1:n.510C>T
ENST00000637819.1:c.521C>T	ENSP00000490686.1:p.Ala174Val
ENST00000637832.1:n.111C>T
ENST00000637927.1:c.5123C>T	ENSP00000489715.1:p.Ala1708Val
ENST00000638009.2:c.5120C>T	ENSP00000489913.1:p.Ala1707Val
ENST00000638029.1:c.5135C>T	ENSP00000489829.1:p.Ala1712Val
ENST00000664864.1:c.5321C>T	ENSP00000499449.1:p.Ala1774Val
ENST00000360228.9:c.5117C>T	ENSP00000353362.5:p.Ala1706Val
ENST00000573710.6:c.5120C>T	ENSP00000460092.2:p.Ala1707Val
ENST00000573891.5:c.536C>T
ENST00000574822.5:n.341C>T
ENST00000585802.5:c.1175C>T	ENSP00000465598.1:p.Ala392Val
ENST00000587525.5:c.578C>T	ENSP00000467729.1:p.Ala193Val
ENST00000593267.1:n.322C>T
ENST00000614285.4:c.5135C>T	ENSP00000479983.1:p.Ala1712Val
NM_000068.3:c.5135C>T	NP_000059.3:p.Ala1712Val
NM_001127221.1:c.5120C>T , LRG_7t1:c.5120C>T	NP_001120693.1:p.Ala1707Val
NM_001127222.1:c.5117C>T	NP_001120694.1:p.Ala1706Val
NM_001174080.1:c.5126C>T	NP_001167551.1:p.Ala1709Val
NM_023035.2:c.5135C>T	NP_075461.2:p.Ala1712Val
NM_000068.4:c.5135C>T	NP_000059.3:p.Ala1712Val
NM_001127222.2:c.5117C>T MANE Select	NP_001120694.1:p.Ala1706Val
NM_001174080.2:c.5126C>T	NP_001167551.1:p.Ala1709Val
NM_023035.3:c.5135C>T	NP_075461.2:p.Ala1712Val
NM_001127221.2:c.5120C>T	NP_001120693.1:p.Ala1707Val