Canonical Allele Identifier: CA254421

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 8490
• ClinVar RCV Id: RCV000009012 ; RCV001533163 ; RCV001390440
• dbSNP Id: rs121908214
• MyVariant Identifiers: chr19:g.13340999T>G (hg19) ; chr19:g.13230185T>G (hg38)
• PubMed: PMID:8734765 ; PMID:8898206

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13230185T>G , CM000681.2:g.13230185T>G	GRCh38
NC_000019.9:g.13340999T>G , CM000681.1:g.13340999T>G	GRCh37
NC_000019.8:g.13201999T>G	NCBI36
NG_011569.1:g.281276A>C , LRG_7:g.281276A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5425A>C MANE Select	ENSP00000353362.5:p.Ile1809Leu
ENST00000573710.7:c.5431A>C	ENSP00000460092.3:p.Ile1811Leu
ENST00000573891.6:c.844A>C
ENST00000574822.6:n.649A>C
ENST00000585802.6:c.586A>C	ENSP00000465598.2:p.Ile196Leu
ENST00000635727.1:c.5428A>C	ENSP00000490001.1:p.Ile1810Leu
ENST00000635742.1:n.1414A>C
ENST00000635895.1:c.5428A>C	ENSP00000490323.1:p.Ile1810Leu
ENST00000636012.1:c.5428A>C	ENSP00000490223.1:p.Ile1810Leu
ENST00000636389.1:c.5428A>C	ENSP00000489992.1:p.Ile1810Leu
ENST00000636473.1:c.495+1525A>C	ENSP00000490173.1:n.495+1525A>C
ENST00000636549.1:c.5434A>C	ENSP00000490578.1:p.Ile1812Leu
ENST00000636768.1:c.52A>C	ENSP00000490190.1:p.Ile18Leu
ENST00000637276.1:c.5428A>C	ENSP00000489777.1:p.Ile1810Leu
ENST00000637432.1:c.5443A>C	ENSP00000490617.1:p.Ile1815Leu
ENST00000637736.1:c.5287A>C	ENSP00000489861.1:p.Ile1763Leu
ENST00000637769.1:c.5428A>C	ENSP00000489778.1:p.Ile1810Leu
ENST00000637777.1:c.619A>C
ENST00000637809.1:n.818A>C
ENST00000637819.1:c.829A>C	ENSP00000490686.1:p.Ile277Leu
ENST00000637832.1:n.419A>C
ENST00000637927.1:c.5431A>C	ENSP00000489715.1:p.Ile1811Leu
ENST00000638009.2:c.5428A>C	ENSP00000489913.1:p.Ile1810Leu
ENST00000638029.1:c.5443A>C	ENSP00000489829.1:p.Ile1815Leu
ENST00000664864.1:c.5629A>C	ENSP00000499449.1:p.Ile1877Leu
ENST00000360228.9:c.5425A>C	ENSP00000353362.5:p.Ile1809Leu
ENST00000573710.6:c.5428A>C	ENSP00000460092.2:p.Ile1810Leu
ENST00000574822.5:n.649A>C
ENST00000585802.5:c.1483A>C	ENSP00000465598.1:p.Ile495Leu
ENST00000587525.5:c.886A>C	ENSP00000467729.1:p.Ile296Leu
ENST00000614285.4:c.5443A>C	ENSP00000479983.1:p.Ile1815Leu
NM_000068.3:c.5443A>C	NP_000059.3:p.Ile1815Leu
NM_001127221.1:c.5428A>C , LRG_7t1:c.5428A>C	NP_001120693.1:p.Ile1810Leu
NM_001127222.1:c.5425A>C	NP_001120694.1:p.Ile1809Leu
NM_001174080.1:c.5434A>C	NP_001167551.1:p.Ile1812Leu
NM_023035.2:c.5443A>C	NP_075461.2:p.Ile1815Leu
NM_000068.4:c.5443A>C	NP_000059.3:p.Ile1815Leu
NM_001127222.2:c.5425A>C MANE Select	NP_001120694.1:p.Ile1809Leu
NM_001174080.2:c.5434A>C	NP_001167551.1:p.Ile1812Leu
NM_023035.3:c.5443A>C	NP_075461.2:p.Ile1815Leu
NM_001127221.2:c.5428A>C	NP_001120693.1:p.Ile1810Leu