Canonical Allele Identifier: CA16620781

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 422063
• ClinVar RCV Id: RCV000480159 ; RCV001264726 ; RCV001542801 ; RCV002227168 ; RCV001643203 ; RCV001856860
• dbSNP Id: rs1064795531
• MyVariant Identifiers: chr19:g.13356019C>T (hg19) ; chr19:g.13245205C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13245205C>T , CM000681.2:g.13245205C>T	GRCh38
NC_000019.9:g.13356019C>T , CM000681.1:g.13356019C>T	GRCh37
NC_000019.8:g.13217019C>T	NCBI36
NG_011569.1:g.266256G>A , LRG_7:g.266256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4927G>A MANE Select	ENSP00000353362.5:p.Asp1643Asn
ENST00000573710.7:c.4933G>A	ENSP00000460092.3:p.Asp1645Asn
ENST00000573891.6:c.176G>A
ENST00000574822.6:n.151G>A
ENST00000585802.6:c.82G>A	ENSP00000465598.2:p.Asp28Asn
ENST00000635727.1:c.4930G>A	ENSP00000490001.1:p.Asp1644Asn
ENST00000635742.1:n.916G>A
ENST00000635895.1:c.4930G>A	ENSP00000490323.1:p.Asp1644Asn
ENST00000636012.1:c.4930G>A	ENSP00000490223.1:p.Asp1644Asn
ENST00000636058.1:c.66G>A
ENST00000636389.1:c.4930G>A	ENSP00000489992.1:p.Asp1644Asn
ENST00000636473.1:c.82G>A	ENSP00000490173.1:p.Asp28Asn
ENST00000636549.1:c.4930G>A	ENSP00000490578.1:p.Asp1644Asn
ENST00000637004.1:n.1393G>A
ENST00000637276.1:c.4930G>A	ENSP00000489777.1:p.Asp1644Asn
ENST00000637297.1:c.247-9475G>A	ENSP00000489692.1:n.247-9475G>A
ENST00000637432.1:c.4939G>A	ENSP00000490617.1:p.Asp1647Asn
ENST00000637475.1:n.441G>A
ENST00000637736.1:c.4789G>A	ENSP00000489861.1:p.Asp1597Asn
ENST00000637769.1:c.4930G>A	ENSP00000489778.1:p.Asp1644Asn
ENST00000637777.1:c.11G>A
ENST00000637809.1:n.314G>A
ENST00000637819.1:c.325G>A	ENSP00000490686.1:p.Asp109Asn
ENST00000637927.1:c.4933G>A	ENSP00000489715.1:p.Asp1645Asn
ENST00000638009.2:c.4930G>A	ENSP00000489913.1:p.Asp1644Asn
ENST00000638029.1:c.4939G>A	ENSP00000489829.1:p.Asp1647Asn
ENST00000664864.1:c.5125G>A	ENSP00000499449.1:p.Asp1709Asn
ENST00000360228.9:c.4927G>A	ENSP00000353362.5:p.Asp1643Asn
ENST00000573710.6:c.4930G>A	ENSP00000460092.2:p.Asp1644Asn
ENST00000573891.5:c.176G>A
ENST00000574822.5:n.151G>A
ENST00000585802.5:c.985G>A	ENSP00000465598.1:p.Asp329Asn
ENST00000587525.5:c.388G>A	ENSP00000467729.1:p.Asp130Asn
ENST00000614285.4:c.4939G>A	ENSP00000479983.1:p.Asp1647Asn
NM_000068.3:c.4939G>A	NP_000059.3:p.Asp1647Asn
NM_001127221.1:c.4930G>A , LRG_7t1:c.4930G>A	NP_001120693.1:p.Asp1644Asn
NM_001127222.1:c.4927G>A	NP_001120694.1:p.Asp1643Asn
NM_001174080.1:c.4930G>A	NP_001167551.1:p.Asp1644Asn
NM_023035.2:c.4939G>A	NP_075461.2:p.Asp1647Asn
NM_000068.4:c.4939G>A	NP_000059.3:p.Asp1647Asn
NM_001127222.2:c.4927G>A MANE Select	NP_001120694.1:p.Asp1643Asn
NM_001174080.2:c.4930G>A	NP_001167551.1:p.Asp1644Asn
NM_023035.3:c.4939G>A	NP_075461.2:p.Asp1647Asn
NM_001127221.2:c.4930G>A	NP_001120693.1:p.Asp1644Asn