Canonical Allele Identifier: CA505660026

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13261533-G-A
• MyVariant Identifiers: chr19:g.13372347G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13261533G>A , CM000681.2:g.13261533G>A	GRCh38
NC_000019.9:g.13372347G>A , CM000681.1:g.13372347G>A	GRCh37
NC_000019.8:g.13233347G>A	NCBI36
NG_011569.1:g.249928C>T , LRG_7:g.249928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4167C>T MANE Select	ENSP00000353362.5:p.Ile1389=
ENST00000573710.7:c.4173C>T	ENSP00000460092.3:p.Ile1391=
ENST00000590205.2:n.1173C>T
ENST00000635727.1:c.4170C>T	ENSP00000490001.1:p.Ile1390=
ENST00000635742.1:n.156C>T
ENST00000635895.1:c.4170C>T	ENSP00000490323.1:p.Ile1390=
ENST00000635917.1:n.659C>T
ENST00000636012.1:c.4170C>T	ENSP00000490223.1:p.Ile1390=
ENST00000636389.1:c.4170C>T	ENSP00000489992.1:p.Ile1390=
ENST00000636549.1:c.4170C>T	ENSP00000490578.1:p.Ile1390=
ENST00000636816.1:n.855C>T
ENST00000637004.1:n.633C>T
ENST00000637276.1:c.4170C>T	ENSP00000489777.1:p.Ile1390=
ENST00000637432.1:c.4179C>T	ENSP00000490617.1:p.Ile1393=
ENST00000637692.1:n.489C>T
ENST00000637736.1:c.4029C>T	ENSP00000489861.1:p.Ile1343=
ENST00000637769.1:c.4170C>T	ENSP00000489778.1:p.Ile1390=
ENST00000637927.1:c.4173C>T	ENSP00000489715.1:p.Ile1391=
ENST00000638009.2:c.4170C>T	ENSP00000489913.1:p.Ile1390=
ENST00000638029.1:c.4179C>T	ENSP00000489829.1:p.Ile1393=
ENST00000664864.1:c.4365C>T	ENSP00000499449.1:p.Ile1455=
ENST00000360228.9:c.4167C>T	ENSP00000353362.5:p.Ile1389=
ENST00000573710.6:c.4170C>T	ENSP00000460092.2:p.Ile1390=
ENST00000585802.5:c.225C>T	ENSP00000465598.1:p.Ile75=
ENST00000590205.1:n.246C>T
ENST00000614285.4:c.4179C>T	ENSP00000479983.1:p.Ile1393=
NM_000068.3:c.4179C>T	NP_000059.3:p.Ile1393=
NM_001127221.1:c.4170C>T , LRG_7t1:c.4170C>T	NP_001120693.1:p.Ile1390=
NM_001127222.1:c.4167C>T	NP_001120694.1:p.Ile1389=
NM_001174080.1:c.4170C>T	NP_001167551.1:p.Ile1390=
NM_023035.2:c.4179C>T	NP_075461.2:p.Ile1393=
NM_000068.4:c.4179C>T	NP_000059.3:p.Ile1393=
NM_001127222.2:c.4167C>T MANE Select	NP_001120694.1:p.Ile1389=
NM_001174080.2:c.4170C>T	NP_001167551.1:p.Ile1390=
NM_023035.3:c.4179C>T	NP_075461.2:p.Ile1393=
NM_001127221.2:c.4170C>T	NP_001120693.1:p.Ile1390=