Canonical Allele Identifier: CA16620797

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 420057
• ClinVar RCV Id: RCV000487043 ; RCV002526562 ; RCV002470870
• dbSNP Id: rs1064794263
• gnomAD v3: 19-13312743-C-T
• gnomAD v4: 19-13312743-C-T
• COSMIC: COSM259886 ; COSM259887 ; COSM2817767 ; COSM2817768
• MyVariant Identifiers: chr19:g.13423557C>T (hg19) ; chr19:g.13312743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13312743C>T , CM000681.2:g.13312743C>T	GRCh38
NC_000019.9:g.13423557C>T , CM000681.1:g.13423557C>T	GRCh37
NC_000019.8:g.13284557C>T	NCBI36
NG_011569.1:g.198718G>A , LRG_7:g.198718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.1594G>A MANE Select	ENSP00000353362.5:p.Glu532Lys
ENST00000573710.7:c.1600G>A	ENSP00000460092.3:p.Glu534Lys
ENST00000635727.1:c.1597G>A	ENSP00000490001.1:p.Glu533Lys
ENST00000635895.1:c.1597G>A	ENSP00000490323.1:p.Glu533Lys
ENST00000636012.1:c.1597G>A	ENSP00000490223.1:p.Glu533Lys
ENST00000636022.1:n.461G>A
ENST00000636389.1:c.1597G>A	ENSP00000489992.1:p.Glu533Lys
ENST00000636549.1:c.1597G>A	ENSP00000490578.1:p.Glu533Lys
ENST00000636974.1:n.956G>A
ENST00000637276.1:c.1597G>A	ENSP00000489777.1:p.Glu533Lys
ENST00000637432.1:c.1597G>A	ENSP00000490617.1:p.Glu533Lys
ENST00000637736.1:c.1456G>A	ENSP00000489861.1:p.Glu486Lys
ENST00000637769.1:c.1597G>A	ENSP00000489778.1:p.Glu533Lys
ENST00000637927.1:c.1600G>A	ENSP00000489715.1:p.Glu534Lys
ENST00000637966.1:n.1450G>A
ENST00000638009.2:c.1597G>A	ENSP00000489913.1:p.Glu533Lys
ENST00000638029.1:c.1597G>A	ENSP00000489829.1:p.Glu533Lys
ENST00000664864.1:c.1792G>A	ENSP00000499449.1:p.Glu598Lys
ENST00000360228.9:c.1594G>A	ENSP00000353362.5:p.Glu532Lys
ENST00000573710.6:c.1597G>A	ENSP00000460092.2:p.Glu533Lys
ENST00000614285.4:c.1597G>A	ENSP00000479983.1:p.Glu533Lys
NM_000068.3:c.1597G>A	NP_000059.3:p.Glu533Lys
NM_001127221.1:c.1597G>A , LRG_7t1:c.1597G>A	NP_001120693.1:p.Glu533Lys
NM_001127222.1:c.1594G>A	NP_001120694.1:p.Glu532Lys
NM_001174080.1:c.1597G>A	NP_001167551.1:p.Glu533Lys
NM_023035.2:c.1597G>A	NP_075461.2:p.Glu533Lys
NM_000068.4:c.1597G>A	NP_000059.3:p.Glu533Lys
NM_001127222.2:c.1594G>A MANE Select	NP_001120694.1:p.Glu532Lys
NM_001174080.2:c.1597G>A	NP_001167551.1:p.Glu533Lys
NM_023035.3:c.1597G>A	NP_075461.2:p.Glu533Lys
NM_001127221.2:c.1597G>A	NP_001120693.1:p.Glu533Lys