Canonical Allele Identifier: CA404334930

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 2446653
• ClinVar RCV Id: RCV003159483
• MyVariant Identifiers: chr19:g.13342666G>C (hg19) ; chr19:g.13231852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231852G>C , CM000681.2:g.13231852G>C	GRCh38
NC_000019.9:g.13342666G>C , CM000681.1:g.13342666G>C	GRCh37
NC_000019.8:g.13203666G>C	NCBI36
NG_011569.1:g.279609C>G , LRG_7:g.279609C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5258C>G MANE Select	ENSP00000353362.5:p.Thr1753Ser
ENST00000573710.7:c.5264C>G	ENSP00000460092.3:p.Thr1755Ser
ENST00000573891.6:c.677C>G
ENST00000574822.6:n.482C>G
ENST00000585802.6:c.419C>G	ENSP00000465598.2:p.Thr140Ser
ENST00000635727.1:c.5261C>G	ENSP00000490001.1:p.Thr1754Ser
ENST00000635742.1:n.1247C>G
ENST00000635895.1:c.5261C>G	ENSP00000490323.1:p.Thr1754Ser
ENST00000636012.1:c.5261C>G	ENSP00000490223.1:p.Thr1754Ser
ENST00000636058.1:c.573C>G
ENST00000636389.1:c.5261C>G	ENSP00000489992.1:p.Thr1754Ser
ENST00000636473.1:c.353C>G	ENSP00000490173.1:p.Thr118Ser
ENST00000636549.1:c.5267C>G	ENSP00000490578.1:p.Thr1756Ser
ENST00000637276.1:c.5261C>G	ENSP00000489777.1:p.Thr1754Ser
ENST00000637297.1:c.554C>G	ENSP00000489692.1:p.Thr185Ser
ENST00000637432.1:c.5276C>G	ENSP00000490617.1:p.Thr1759Ser
ENST00000637736.1:c.5120C>G	ENSP00000489861.1:p.Thr1707Ser
ENST00000637769.1:c.5261C>G	ENSP00000489778.1:p.Thr1754Ser
ENST00000637777.1:c.452C>G
ENST00000637809.1:n.651C>G
ENST00000637819.1:c.662C>G	ENSP00000490686.1:p.Thr221Ser
ENST00000637832.1:n.252C>G
ENST00000637927.1:c.5264C>G	ENSP00000489715.1:p.Thr1755Ser
ENST00000638009.2:c.5261C>G	ENSP00000489913.1:p.Thr1754Ser
ENST00000638029.1:c.5276C>G	ENSP00000489829.1:p.Thr1759Ser
ENST00000664864.1:c.5462C>G	ENSP00000499449.1:p.Thr1821Ser
ENST00000360228.9:c.5258C>G	ENSP00000353362.5:p.Thr1753Ser
ENST00000573710.6:c.5261C>G	ENSP00000460092.2:p.Thr1754Ser
ENST00000573891.5:c.677C>G
ENST00000574822.5:n.482C>G
ENST00000585802.5:c.1316C>G	ENSP00000465598.1:p.Thr439Ser
ENST00000587525.5:c.719C>G	ENSP00000467729.1:p.Thr240Ser
ENST00000614285.4:c.5276C>G	ENSP00000479983.1:p.Thr1759Ser
NM_000068.3:c.5276C>G	NP_000059.3:p.Thr1759Ser
NM_001127221.1:c.5261C>G , LRG_7t1:c.5261C>G	NP_001120693.1:p.Thr1754Ser
NM_001127222.1:c.5258C>G	NP_001120694.1:p.Thr1753Ser
NM_001174080.1:c.5267C>G	NP_001167551.1:p.Thr1756Ser
NM_023035.2:c.5276C>G	NP_075461.2:p.Thr1759Ser
NM_000068.4:c.5276C>G	NP_000059.3:p.Thr1759Ser
NM_001127222.2:c.5258C>G MANE Select	NP_001120694.1:p.Thr1753Ser
NM_001174080.2:c.5267C>G	NP_001167551.1:p.Thr1756Ser
NM_023035.3:c.5276C>G	NP_075461.2:p.Thr1759Ser
NM_001127221.2:c.5261C>G	NP_001120693.1:p.Thr1754Ser