Canonical Allele Identifier: CA9239857

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 1589432
• ClinVar RCV Id: RCV002101026
• dbSNP Id: rs755424786
• ExAC: 19:13346494 G / A
• gnomAD v2: 19-13346494-G-A
• MyVariant Identifiers: chr19:g.13346494G>A (hg19) ; chr19:g.13235680G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235680G>A , CM000681.2:g.13235680G>A	GRCh38
NC_000019.9:g.13346494G>A , CM000681.1:g.13346494G>A	GRCh37
NC_000019.8:g.13207494G>A	NCBI36
NG_011569.1:g.275781C>T , LRG_7:g.275781C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5001C>T MANE Select	ENSP00000353362.5:p.Leu1667=
ENST00000573710.7:c.5007C>T	ENSP00000460092.3:p.Leu1669=
ENST00000573891.6:c.420C>T
ENST00000574822.6:n.225C>T
ENST00000585802.6:c.162C>T	ENSP00000465598.2:p.Leu54=
ENST00000593267.2:n.206C>T
ENST00000635727.1:c.5004C>T	ENSP00000490001.1:p.Leu1668=
ENST00000635742.1:n.990C>T
ENST00000635895.1:c.5004C>T	ENSP00000490323.1:p.Leu1668=
ENST00000636012.1:c.5004C>T	ENSP00000490223.1:p.Leu1668=
ENST00000636058.1:c.316C>T
ENST00000636389.1:c.5004C>T	ENSP00000489992.1:p.Leu1668=
ENST00000636473.1:c.162C>T	ENSP00000490173.1:p.Leu54=
ENST00000636549.1:c.5010C>T	ENSP00000490578.1:p.Leu1670=
ENST00000637276.1:c.5004C>T	ENSP00000489777.1:p.Leu1668=
ENST00000637297.1:c.297C>T	ENSP00000489692.1:p.Leu99=
ENST00000637432.1:c.5019C>T	ENSP00000490617.1:p.Leu1673=
ENST00000637736.1:c.4863C>T	ENSP00000489861.1:p.Leu1621=
ENST00000637769.1:c.5004C>T	ENSP00000489778.1:p.Leu1668=
ENST00000637777.1:c.261C>T
ENST00000637809.1:n.394C>T
ENST00000637819.1:c.405C>T	ENSP00000490686.1:p.Leu135=
ENST00000637927.1:c.5007C>T	ENSP00000489715.1:p.Leu1669=
ENST00000638009.2:c.5004C>T	ENSP00000489913.1:p.Leu1668=
ENST00000638029.1:c.5019C>T	ENSP00000489829.1:p.Leu1673=
ENST00000664864.1:c.5205C>T	ENSP00000499449.1:p.Leu1735=
ENST00000360228.9:c.5001C>T	ENSP00000353362.5:p.Leu1667=
ENST00000573710.6:c.5004C>T	ENSP00000460092.2:p.Leu1668=
ENST00000573891.5:c.420C>T
ENST00000574822.5:n.225C>T
ENST00000585802.5:c.1059C>T	ENSP00000465598.1:p.Leu353=
ENST00000587525.5:c.462C>T	ENSP00000467729.1:p.Leu154=
ENST00000593267.1:n.206C>T
ENST00000614285.4:c.5019C>T	ENSP00000479983.1:p.Leu1673=
NM_000068.3:c.5019C>T	NP_000059.3:p.Leu1673=
NM_001127221.1:c.5004C>T , LRG_7t1:c.5004C>T	NP_001120693.1:p.Leu1668=
NM_001127222.1:c.5001C>T	NP_001120694.1:p.Leu1667=
NM_001174080.1:c.5010C>T	NP_001167551.1:p.Leu1670=
NM_023035.2:c.5019C>T	NP_075461.2:p.Leu1673=
NM_000068.4:c.5019C>T	NP_000059.3:p.Leu1673=
NM_001127222.2:c.5001C>T MANE Select	NP_001120694.1:p.Leu1667=
NM_001174080.2:c.5010C>T	NP_001167551.1:p.Leu1670=
NM_023035.3:c.5019C>T	NP_075461.2:p.Leu1673=
NM_001127221.2:c.5004C>T	NP_001120693.1:p.Leu1668=