Canonical Allele Identifier: CA16043177

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 373626
• ClinVar RCV Id: RCV000413224 ; RCV001850999
• dbSNP Id: rs1057518513
• MyVariant Identifiers: chr19:g.13445191C>T (hg19) ; chr19:g.13334377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13334377C>T , CM000681.2:g.13334377C>T	GRCh38
NC_000019.9:g.13445191C>T , CM000681.1:g.13445191C>T	GRCh37
NC_000019.8:g.13306191C>T	NCBI36
NG_011569.1:g.177084G>A , LRG_7:g.177084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.1198+1G>A MANE Select	ENSP00000353362.5:n.1198+1G>A
ENST00000573710.7:c.1198+1G>A	ENSP00000460092.3:n.1198+1G>A
ENST00000593160.2:n.914G>A
ENST00000635727.1:c.1198+1G>A	ENSP00000490001.1:n.1198+1G>A
ENST00000635895.1:c.1198+1G>A	ENSP00000490323.1:n.1198+1G>A
ENST00000636012.1:c.1198+1G>A	ENSP00000490223.1:n.1198+1G>A
ENST00000636022.1:n.59+1G>A
ENST00000636389.1:c.1198+1G>A	ENSP00000489992.1:n.1198+1G>A
ENST00000636549.1:c.1198+1G>A	ENSP00000490578.1:n.1198+1G>A
ENST00000636974.1:n.557+1G>A
ENST00000637276.1:c.1198+1G>A	ENSP00000489777.1:n.1198+1G>A
ENST00000637432.1:c.1198+1G>A	ENSP00000490617.1:n.1198+1G>A
ENST00000637736.1:c.1057+1G>A	ENSP00000489861.1:n.1057+1G>A
ENST00000637769.1:c.1198+1G>A	ENSP00000489778.1:n.1198+1G>A
ENST00000637927.1:c.1198+1G>A	ENSP00000489715.1:n.1198+1G>A
ENST00000637966.1:n.1051+1G>A
ENST00000638009.2:c.1198+1G>A	ENSP00000489913.1:n.1198+1G>A
ENST00000638029.1:c.1198+1G>A	ENSP00000489829.1:n.1198+1G>A
ENST00000664864.1:c.1393+1G>A	ENSP00000499449.1:n.1393+1G>A
ENST00000360228.9:c.1198+1G>A	ENSP00000353362.5:n.1198+1G>A
ENST00000573710.6:c.1198+1G>A	ENSP00000460092.2:n.1198+1G>A
ENST00000593160.1:n.419G>A
ENST00000614285.4:c.1198+1G>A	ENSP00000479983.1:n.1198+1G>A
NM_000068.3:c.1198+1G>A	NP_000059.3:n.1198+1G>A
NM_001127221.1:c.1198+1G>A , LRG_7t1:c.1198+1G>A	NP_001120693.1:n.1198+1G>A
NM_001127222.1:c.1198+1G>A	NP_001120694.1:n.1198+1G>A
NM_001174080.1:c.1198+1G>A	NP_001167551.1:n.1198+1G>A
NM_023035.2:c.1198+1G>A	NP_075461.2:n.1198+1G>A
NM_000068.4:c.1198+1G>A	NP_000059.3:n.1198+1G>A
NM_001127222.2:c.1198+1G>A MANE Select	NP_001120694.1:n.1198+1G>A
NM_001174080.2:c.1198+1G>A	NP_001167551.1:n.1198+1G>A
NM_023035.3:c.1198+1G>A	NP_075461.2:n.1198+1G>A
NM_001127221.2:c.1198+1G>A	NP_001120693.1:n.1198+1G>A