Canonical Allele Identifier: CA404333762

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 500851
• ClinVar RCV Id: RCV000593477 ; RCV000818527 ; RCV002272299
• dbSNP Id: rs1555736565
• MyVariant Identifiers: chr19:g.13341005C>T (hg19) ; chr19:g.13230191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13230191C>T , CM000681.2:g.13230191C>T	GRCh38
NC_000019.9:g.13341005C>T , CM000681.1:g.13341005C>T	GRCh37
NC_000019.8:g.13202005C>T	NCBI36
NG_011569.1:g.281270G>A , LRG_7:g.281270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5419G>A MANE Select	ENSP00000353362.5:p.Ala1807Thr
ENST00000573710.7:c.5425G>A	ENSP00000460092.3:p.Ala1809Thr
ENST00000573891.6:c.838G>A
ENST00000574822.6:n.643G>A
ENST00000585802.6:c.580G>A	ENSP00000465598.2:p.Ala194Thr
ENST00000635727.1:c.5422G>A	ENSP00000490001.1:p.Ala1808Thr
ENST00000635742.1:n.1408G>A
ENST00000635895.1:c.5422G>A	ENSP00000490323.1:p.Ala1808Thr
ENST00000636012.1:c.5422G>A	ENSP00000490223.1:p.Ala1808Thr
ENST00000636389.1:c.5422G>A	ENSP00000489992.1:p.Ala1808Thr
ENST00000636473.1:c.495+1519G>A	ENSP00000490173.1:n.495+1519G>A
ENST00000636549.1:c.5428G>A	ENSP00000490578.1:p.Ala1810Thr
ENST00000636768.1:c.46G>A	ENSP00000490190.1:p.Ala16Thr
ENST00000637276.1:c.5422G>A	ENSP00000489777.1:p.Ala1808Thr
ENST00000637432.1:c.5437G>A	ENSP00000490617.1:p.Ala1813Thr
ENST00000637736.1:c.5281G>A	ENSP00000489861.1:p.Ala1761Thr
ENST00000637769.1:c.5422G>A	ENSP00000489778.1:p.Ala1808Thr
ENST00000637777.1:c.613G>A
ENST00000637809.1:n.812G>A
ENST00000637819.1:c.823G>A	ENSP00000490686.1:p.Ala275Thr
ENST00000637832.1:n.413G>A
ENST00000637927.1:c.5425G>A	ENSP00000489715.1:p.Ala1809Thr
ENST00000638009.2:c.5422G>A	ENSP00000489913.1:p.Ala1808Thr
ENST00000638029.1:c.5437G>A	ENSP00000489829.1:p.Ala1813Thr
ENST00000664864.1:c.5623G>A	ENSP00000499449.1:p.Ala1875Thr
ENST00000360228.9:c.5419G>A	ENSP00000353362.5:p.Ala1807Thr
ENST00000573710.6:c.5422G>A	ENSP00000460092.2:p.Ala1808Thr
ENST00000574822.5:n.643G>A
ENST00000585802.5:c.1477G>A	ENSP00000465598.1:p.Ala493Thr
ENST00000587525.5:c.880G>A	ENSP00000467729.1:p.Ala294Thr
ENST00000614285.4:c.5437G>A	ENSP00000479983.1:p.Ala1813Thr
NM_000068.3:c.5437G>A	NP_000059.3:p.Ala1813Thr
NM_001127221.1:c.5422G>A , LRG_7t1:c.5422G>A	NP_001120693.1:p.Ala1808Thr
NM_001127222.1:c.5419G>A	NP_001120694.1:p.Ala1807Thr
NM_001174080.1:c.5428G>A	NP_001167551.1:p.Ala1810Thr
NM_023035.2:c.5437G>A	NP_075461.2:p.Ala1813Thr
NM_000068.4:c.5437G>A	NP_000059.3:p.Ala1813Thr
NM_001127222.2:c.5419G>A MANE Select	NP_001120694.1:p.Ala1807Thr
NM_001174080.2:c.5428G>A	NP_001167551.1:p.Ala1810Thr
NM_023035.3:c.5437G>A	NP_075461.2:p.Ala1813Thr
NM_001127221.2:c.5422G>A	NP_001120693.1:p.Ala1808Thr