Canonical Allele Identifier: CA404337133

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13346535T>C (hg19) ; chr19:g.13235721T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235721T>C , CM000681.2:g.13235721T>C	GRCh38
NC_000019.9:g.13346535T>C , CM000681.1:g.13346535T>C	GRCh37
NC_000019.8:g.13207535T>C	NCBI36
NG_011569.1:g.275740A>G , LRG_7:g.275740A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4960A>G MANE Select	ENSP00000353362.5:p.Ile1654Val
ENST00000573710.7:c.4966A>G	ENSP00000460092.3:p.Ile1656Val
ENST00000573891.6:c.379A>G
ENST00000574822.6:n.184A>G
ENST00000585802.6:c.121A>G	ENSP00000465598.2:p.Ile41Val
ENST00000593267.2:n.165A>G
ENST00000635727.1:c.4963A>G	ENSP00000490001.1:p.Ile1655Val
ENST00000635742.1:n.949A>G
ENST00000635895.1:c.4963A>G	ENSP00000490323.1:p.Ile1655Val
ENST00000636012.1:c.4963A>G	ENSP00000490223.1:p.Ile1655Val
ENST00000636058.1:c.275A>G
ENST00000636389.1:c.4963A>G	ENSP00000489992.1:p.Ile1655Val
ENST00000636473.1:c.121A>G	ENSP00000490173.1:p.Ile41Val
ENST00000636549.1:c.4969A>G	ENSP00000490578.1:p.Ile1657Val
ENST00000637276.1:c.4963A>G	ENSP00000489777.1:p.Ile1655Val
ENST00000637297.1:c.256A>G	ENSP00000489692.1:p.Ile86Val
ENST00000637432.1:c.4978A>G	ENSP00000490617.1:p.Ile1660Val
ENST00000637736.1:c.4822A>G	ENSP00000489861.1:p.Ile1608Val
ENST00000637769.1:c.4963A>G	ENSP00000489778.1:p.Ile1655Val
ENST00000637777.1:c.220A>G
ENST00000637809.1:n.353A>G
ENST00000637819.1:c.364A>G	ENSP00000490686.1:p.Ile122Val
ENST00000637927.1:c.4966A>G	ENSP00000489715.1:p.Ile1656Val
ENST00000638009.2:c.4963A>G	ENSP00000489913.1:p.Ile1655Val
ENST00000638029.1:c.4978A>G	ENSP00000489829.1:p.Ile1660Val
ENST00000664864.1:c.5164A>G	ENSP00000499449.1:p.Ile1722Val
ENST00000360228.9:c.4960A>G	ENSP00000353362.5:p.Ile1654Val
ENST00000573710.6:c.4963A>G	ENSP00000460092.2:p.Ile1655Val
ENST00000573891.5:c.379A>G
ENST00000574822.5:n.184A>G
ENST00000585802.5:c.1018A>G	ENSP00000465598.1:p.Ile340Val
ENST00000587525.5:c.421A>G	ENSP00000467729.1:p.Ile141Val
ENST00000593267.1:n.165A>G
ENST00000614285.4:c.4978A>G	ENSP00000479983.1:p.Ile1660Val
NM_000068.3:c.4978A>G	NP_000059.3:p.Ile1660Val
NM_001127221.1:c.4963A>G , LRG_7t1:c.4963A>G	NP_001120693.1:p.Ile1655Val
NM_001127222.1:c.4960A>G	NP_001120694.1:p.Ile1654Val
NM_001174080.1:c.4969A>G	NP_001167551.1:p.Ile1657Val
NM_023035.2:c.4978A>G	NP_075461.2:p.Ile1660Val
NM_000068.4:c.4978A>G	NP_000059.3:p.Ile1660Val
NM_001127222.2:c.4960A>G MANE Select	NP_001120694.1:p.Ile1654Val
NM_001174080.2:c.4969A>G	NP_001167551.1:p.Ile1657Val
NM_023035.3:c.4978A>G	NP_075461.2:p.Ile1660Val
NM_001127221.2:c.4963A>G	NP_001120693.1:p.Ile1655Val