Canonical Allele Identifier: CA505658435

Gene: CACNA1A

Linked Data

• dbSNP Id: rs1568447032
• MyVariant Identifiers: chr19:g.13345836A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235022A>T , CM000681.2:g.13235022A>T	GRCh38
NC_000019.9:g.13345836A>T , CM000681.1:g.13345836A>T	GRCh37
NC_000019.8:g.13206836A>T	NCBI36
NG_011569.1:g.276439T>A , LRG_7:g.276439T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5148T>A MANE Select	ENSP00000353362.5:p.Ile1716=
ENST00000573710.7:c.5154T>A	ENSP00000460092.3:p.Ile1718=
ENST00000573891.6:c.567T>A
ENST00000574822.6:n.372T>A
ENST00000585802.6:c.309T>A	ENSP00000465598.2:p.Ile103=
ENST00000593267.2:n.353T>A
ENST00000635727.1:c.5151T>A	ENSP00000490001.1:p.Ile1717=
ENST00000635742.1:n.1137T>A
ENST00000635895.1:c.5151T>A	ENSP00000490323.1:p.Ile1717=
ENST00000636012.1:c.5151T>A	ENSP00000490223.1:p.Ile1717=
ENST00000636058.1:c.463T>A
ENST00000636389.1:c.5151T>A	ENSP00000489992.1:p.Ile1717=
ENST00000636473.1:c.243T>A	ENSP00000490173.1:p.Ile81=
ENST00000636549.1:c.5157T>A	ENSP00000490578.1:p.Ile1719=
ENST00000637276.1:c.5151T>A	ENSP00000489777.1:p.Ile1717=
ENST00000637297.1:c.444T>A	ENSP00000489692.1:p.Ile148=
ENST00000637432.1:c.5166T>A	ENSP00000490617.1:p.Ile1722=
ENST00000637736.1:c.5010T>A	ENSP00000489861.1:p.Ile1670=
ENST00000637769.1:c.5151T>A	ENSP00000489778.1:p.Ile1717=
ENST00000637777.1:c.342T>A
ENST00000637809.1:n.541T>A
ENST00000637819.1:c.552T>A	ENSP00000490686.1:p.Ile184=
ENST00000637832.1:n.142T>A
ENST00000637927.1:c.5154T>A	ENSP00000489715.1:p.Ile1718=
ENST00000638009.2:c.5151T>A	ENSP00000489913.1:p.Ile1717=
ENST00000638029.1:c.5166T>A	ENSP00000489829.1:p.Ile1722=
ENST00000664864.1:c.5352T>A	ENSP00000499449.1:p.Ile1784=
ENST00000360228.9:c.5148T>A	ENSP00000353362.5:p.Ile1716=
ENST00000573710.6:c.5151T>A	ENSP00000460092.2:p.Ile1717=
ENST00000573891.5:c.567T>A
ENST00000574822.5:n.372T>A
ENST00000585802.5:c.1206T>A	ENSP00000465598.1:p.Ile402=
ENST00000587525.5:c.609T>A	ENSP00000467729.1:p.Ile203=
ENST00000593267.1:n.353T>A
ENST00000614285.4:c.5166T>A	ENSP00000479983.1:p.Ile1722=
NM_000068.3:c.5166T>A	NP_000059.3:p.Ile1722=
NM_001127221.1:c.5151T>A , LRG_7t1:c.5151T>A	NP_001120693.1:p.Ile1717=
NM_001127222.1:c.5148T>A	NP_001120694.1:p.Ile1716=
NM_001174080.1:c.5157T>A	NP_001167551.1:p.Ile1719=
NM_023035.2:c.5166T>A	NP_075461.2:p.Ile1722=
NM_000068.4:c.5166T>A	NP_000059.3:p.Ile1722=
NM_001127222.2:c.5148T>A MANE Select	NP_001120694.1:p.Ile1716=
NM_001174080.2:c.5157T>A	NP_001167551.1:p.Ile1719=
NM_023035.3:c.5166T>A	NP_075461.2:p.Ile1722=
NM_001127221.2:c.5151T>A	NP_001120693.1:p.Ile1717=