Canonical Allele Identifier: CA9239421

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 422383
• ClinVar RCV Id: RCV000762254 ; RCV001865468
• dbSNP Id: rs752513542
• ExAC: 19:13322985 C / T
• gnomAD v2: 19-13322985-C-T
• gnomAD v3: 19-13212171-C-T
• gnomAD v4: 19-13212171-C-T
• MyVariant Identifiers: chr19:g.13322985C>T (hg19) ; chr19:g.13212171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13212171C>T , CM000681.2:g.13212171C>T	GRCh38
NC_000019.9:g.13322985C>T , CM000681.1:g.13322985C>T	GRCh37
NC_000019.8:g.13183985C>T	NCBI36
NG_011569.1:g.299290G>A , LRG_7:g.299290G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.6235G>A MANE Select	ENSP00000353362.5:p.Glu2079Lys
ENST00000573710.7:c.6241G>A	ENSP00000460092.3:p.Glu2081Lys
ENST00000585802.6:c.1396G>A	ENSP00000465598.2:p.Glu466Lys
ENST00000635727.1:c.6238G>A	ENSP00000490001.1:p.Glu2080Lys
ENST00000635895.1:c.6238G>A	ENSP00000490323.1:p.Glu2080Lys
ENST00000636012.1:c.6238G>A	ENSP00000490223.1:p.Glu2080Lys
ENST00000636389.1:c.6238G>A	ENSP00000489992.1:p.Glu2080Lys
ENST00000636473.1:c.1105G>A	ENSP00000490173.1:p.Glu369Lys
ENST00000636549.1:c.6244G>A	ENSP00000490578.1:p.Glu2082Lys
ENST00000636610.1:n.1152G>A
ENST00000636768.1:c.765G>A	ENSP00000490190.1:n.765G>A
ENST00000637276.1:c.6238G>A	ENSP00000489777.1:p.Glu2080Lys
ENST00000637432.1:c.6253G>A	ENSP00000490617.1:p.Glu2085Lys
ENST00000637736.1:c.6097G>A	ENSP00000489861.1:p.Glu2033Lys
ENST00000637769.1:c.6238G>A	ENSP00000489778.1:p.Glu2080Lys
ENST00000637927.1:c.6241G>A	ENSP00000489715.1:p.Glu2081Lys
ENST00000638009.2:c.6238G>A	ENSP00000489913.1:p.Glu2080Lys
ENST00000638029.1:c.6253G>A	ENSP00000489829.1:p.Glu2085Lys
ENST00000664864.1:c.6439G>A	ENSP00000499449.1:p.Glu2147Lys
ENST00000360228.9:c.6235G>A	ENSP00000353362.5:p.Glu2079Lys
ENST00000573710.6:c.6238G>A	ENSP00000460092.2:p.Glu2080Lys
ENST00000585802.5:c.2293G>A	ENSP00000465598.1:p.Glu765Lys
ENST00000587525.5:c.1696G>A	ENSP00000467729.1:p.Glu566Lys
ENST00000614285.4:c.6253G>A	ENSP00000479983.1:p.Glu2085Lys
NM_000068.3:c.6253G>A	NP_000059.3:p.Glu2085Lys
NM_001127221.1:c.6238G>A , LRG_7t1:c.6238G>A	NP_001120693.1:p.Glu2080Lys
NM_001127222.1:c.6235G>A	NP_001120694.1:p.Glu2079Lys
NM_001174080.1:c.6244G>A	NP_001167551.1:p.Glu2082Lys
NM_023035.2:c.6253G>A	NP_075461.2:p.Glu2085Lys
NM_000068.4:c.6253G>A	NP_000059.3:p.Glu2085Lys
NM_001127222.2:c.6235G>A MANE Select	NP_001120694.1:p.Glu2079Lys
NM_001174080.2:c.6244G>A	NP_001167551.1:p.Glu2082Lys
NM_023035.3:c.6253G>A	NP_075461.2:p.Glu2085Lys
NM_001127221.2:c.6238G>A	NP_001120693.1:p.Glu2080Lys