Canonical Allele Identifier: CA16608060

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 389312
• ClinVar RCV Id: RCV000444374
• dbSNP Id: rs1057523399
• MyVariant Identifiers: chr19:g.13341009A>G (hg19) ; chr19:g.13230195A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13230195A>G , CM000681.2:g.13230195A>G	GRCh38
NC_000019.9:g.13341009A>G , CM000681.1:g.13341009A>G	GRCh37
NC_000019.8:g.13202009A>G	NCBI36
NG_011569.1:g.281266T>C , LRG_7:g.281266T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5415T>C MANE Select	ENSP00000353362.5:p.Phe1805=
ENST00000573710.7:c.5421T>C	ENSP00000460092.3:p.Phe1807=
ENST00000573891.6:c.834T>C
ENST00000574822.6:n.639T>C
ENST00000585802.6:c.576T>C	ENSP00000465598.2:p.Phe192=
ENST00000635727.1:c.5418T>C	ENSP00000490001.1:p.Phe1806=
ENST00000635742.1:n.1404T>C
ENST00000635895.1:c.5418T>C	ENSP00000490323.1:p.Phe1806=
ENST00000636012.1:c.5418T>C	ENSP00000490223.1:p.Phe1806=
ENST00000636389.1:c.5418T>C	ENSP00000489992.1:p.Phe1806=
ENST00000636473.1:c.495+1515T>C	ENSP00000490173.1:n.495+1515T>C
ENST00000636549.1:c.5424T>C	ENSP00000490578.1:p.Phe1808=
ENST00000636768.1:c.42T>C	ENSP00000490190.1:p.Phe14=
ENST00000637276.1:c.5418T>C	ENSP00000489777.1:p.Phe1806=
ENST00000637432.1:c.5433T>C	ENSP00000490617.1:p.Phe1811=
ENST00000637736.1:c.5277T>C	ENSP00000489861.1:p.Phe1759=
ENST00000637769.1:c.5418T>C	ENSP00000489778.1:p.Phe1806=
ENST00000637777.1:c.609T>C
ENST00000637809.1:n.808T>C
ENST00000637819.1:c.819T>C	ENSP00000490686.1:p.Phe273=
ENST00000637832.1:n.409T>C
ENST00000637927.1:c.5421T>C	ENSP00000489715.1:p.Phe1807=
ENST00000638009.2:c.5418T>C	ENSP00000489913.1:p.Phe1806=
ENST00000638029.1:c.5433T>C	ENSP00000489829.1:p.Phe1811=
ENST00000664864.1:c.5619T>C	ENSP00000499449.1:p.Phe1873=
ENST00000360228.9:c.5415T>C	ENSP00000353362.5:p.Phe1805=
ENST00000573710.6:c.5418T>C	ENSP00000460092.2:p.Phe1806=
ENST00000574822.5:n.639T>C
ENST00000585802.5:c.1473T>C	ENSP00000465598.1:p.Phe491=
ENST00000587525.5:c.876T>C	ENSP00000467729.1:p.Phe292=
ENST00000614285.4:c.5433T>C	ENSP00000479983.1:p.Phe1811=
NM_000068.3:c.5433T>C	NP_000059.3:p.Phe1811=
NM_001127221.1:c.5418T>C , LRG_7t1:c.5418T>C	NP_001120693.1:p.Phe1806=
NM_001127222.1:c.5415T>C	NP_001120694.1:p.Phe1805=
NM_001174080.1:c.5424T>C	NP_001167551.1:p.Phe1808=
NM_023035.2:c.5433T>C	NP_075461.2:p.Phe1811=
NM_000068.4:c.5433T>C	NP_000059.3:p.Phe1811=
NM_001127222.2:c.5415T>C MANE Select	NP_001120694.1:p.Phe1805=
NM_001174080.2:c.5424T>C	NP_001167551.1:p.Phe1808=
NM_023035.3:c.5433T>C	NP_075461.2:p.Phe1811=
NM_001127221.2:c.5418T>C	NP_001120693.1:p.Phe1806=