Canonical Allele Identifier: CA16043080
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 372981
ClinVar RCV Id: RCV000413159
dbSNP Id: rs1057518116
COSMIC: COSM5854766 COSM5854767 COSM5854768 COSM5854769
MyVariant Identifiers: chr19:g.13563820C>T (hg19) chr19:g.13453006C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13453006C>T , CM000681.2:g.13453006C>T GRCh38
NC_000019.9:g.13563820C>T , CM000681.1:g.13563820C>T GRCh37
NC_000019.8:g.13424820C>T NCBI36
NG_011569.1:g.58455G>A , LRG_7:g.58455G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.409G>A MANE Select ENSP00000353362.5:p.Glu137Lys
ENST00000573710.7:c.409G>A ENSP00000460092.3:p.Glu137Lys
ENST00000574974.3:c.*41G>A ENSP00000459963.2:n.*41G>A
ENST00000593160.2:n.124G>A
ENST00000635727.1:c.409G>A ENSP00000490001.1:p.Glu137Lys
ENST00000635895.1:c.409G>A ENSP00000490323.1:p.Glu137Lys
ENST00000636012.1:c.409G>A ENSP00000490223.1:p.Glu137Lys
ENST00000636389.1:c.409G>A ENSP00000489992.1:p.Glu137Lys
ENST00000636549.1:c.409G>A ENSP00000490578.1:p.Glu137Lys
ENST00000636966.1:n.297G>A
ENST00000637276.1:c.409G>A ENSP00000489777.1:p.Glu137Lys
ENST00000637432.1:c.409G>A ENSP00000490617.1:p.Glu137Lys
ENST00000637616.1:n.417G>A
ENST00000637736.1:c.268G>A ENSP00000489861.1:p.Glu90Lys
ENST00000637769.1:c.409G>A ENSP00000489778.1:p.Glu137Lys
ENST00000637927.1:c.409G>A ENSP00000489715.1:p.Glu137Lys
ENST00000637966.1:n.262G>A
ENST00000637981.1:n.227G>A
ENST00000638009.2:c.409G>A ENSP00000489913.1:p.Glu137Lys
ENST00000638029.1:c.409G>A ENSP00000489829.1:p.Glu137Lys
ENST00000664864.1:c.604G>A ENSP00000499449.1:p.Glu202Lys
ENST00000360228.9:c.409G>A ENSP00000353362.5:p.Glu137Lys
ENST00000573710.6:c.409G>A ENSP00000460092.2:p.Glu137Lys
ENST00000574974.1:c.160G>A ENSP00000459963.1:p.Glu54Lys
ENST00000614285.4:c.409G>A ENSP00000479983.1:p.Glu137Lys
NM_000068.3:c.409G>A NP_000059.3:p.Glu137Lys
NM_001127221.1:c.409G>A , LRG_7t1:c.409G>A NP_001120693.1:p.Glu137Lys
NM_001127222.1:c.409G>A NP_001120694.1:p.Glu137Lys
NM_001174080.1:c.409G>A NP_001167551.1:p.Glu137Lys
NM_023035.2:c.409G>A NP_075461.2:p.Glu137Lys
NM_000068.4:c.409G>A NP_000059.3:p.Glu137Lys
NM_001127222.2:c.409G>A MANE Select NP_001120694.1:p.Glu137Lys
NM_001174080.2:c.409G>A NP_001167551.1:p.Glu137Lys
NM_023035.3:c.409G>A NP_075461.2:p.Glu137Lys
NM_001127221.2:c.409G>A NP_001120693.1:p.Glu137Lys
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