Canonical Allele Identifier: CA9239424

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13212175G>T , CM000681.2:g.13212175G>T	GRCh38
NC_000019.9:g.13322989G>T , CM000681.1:g.13322989G>T	GRCh37
NC_000019.8:g.13183989G>T	NCBI36
NG_011569.1:g.299286C>A , LRG_7:g.299286C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.6231C>A MANE Select	NP_001120694.1:p.Asp2077Glu
ENST00000360228.11:c.6231C>A MANE Select	ENSP00000353362.5:p.Asp2077Glu
NM_000068.3:c.6249C>A	NP_000059.3:p.Asp2083Glu
NM_000068.4:c.6249C>A	NP_000059.3:p.Asp2083Glu
NM_001127221.1:c.6234C>A , LRG_7t1:c.6234C>A	NP_001120693.1:p.Asp2078Glu
NM_001127221.2:c.6234C>A	NP_001120693.1:p.Asp2078Glu
NM_001127222.1:c.6231C>A	NP_001120694.1:p.Asp2077Glu
NM_001174080.1:c.6240C>A	NP_001167551.1:p.Asp2080Glu
NM_001174080.2:c.6240C>A	NP_001167551.1:p.Asp2080Glu
NM_023035.2:c.6249C>A	NP_075461.2:p.Asp2083Glu
NM_023035.3:c.6249C>A	NP_075461.2:p.Asp2083Glu
ENST00000360228.9:c.6231C>A	ENSP00000353362.5:p.Asp2077Glu
ENST00000573710.6:c.6234C>A	ENSP00000460092.2:p.Asp2078Glu
ENST00000573710.7:c.6237C>A	ENSP00000460092.3:p.Asp2079Glu
ENST00000585802.5:c.2289C>A	ENSP00000465598.1:p.Asp763Glu
ENST00000585802.6:c.1392C>A	ENSP00000465598.2:p.Asp464Glu
ENST00000587525.5:c.1692C>A	ENSP00000467729.1:p.Asp564Glu
ENST00000614285.4:c.6249C>A	ENSP00000479983.1:p.Asp2083Glu
ENST00000635727.1:c.6234C>A	ENSP00000490001.1:p.Asp2078Glu
ENST00000635895.1:c.6234C>A	ENSP00000490323.1:p.Asp2078Glu
ENST00000636012.1:c.6234C>A	ENSP00000490223.1:p.Asp2078Glu
ENST00000636389.1:c.6234C>A	ENSP00000489992.1:p.Asp2078Glu
ENST00000636473.1:c.1101C>A	ENSP00000490173.1:p.Asp367Glu
ENST00000636549.1:c.6240C>A	ENSP00000490578.1:p.Asp2080Glu
ENST00000636610.1:n.1148C>A
ENST00000636768.1:c.761C>A	ENSP00000490190.1:n.761C>A
ENST00000637276.1:c.6234C>A	ENSP00000489777.1:p.Asp2078Glu
ENST00000637432.1:c.6249C>A	ENSP00000490617.1:p.Asp2083Glu
ENST00000637736.1:c.6093C>A	ENSP00000489861.1:p.Asp2031Glu
ENST00000637769.1:c.6234C>A	ENSP00000489778.1:p.Asp2078Glu
ENST00000637927.1:c.6237C>A	ENSP00000489715.1:p.Asp2079Glu
ENST00000638009.2:c.6234C>A	ENSP00000489913.1:p.Asp2078Glu
ENST00000638029.1:c.6249C>A	ENSP00000489829.1:p.Asp2083Glu
ENST00000664864.1:c.6435C>A	ENSP00000499449.1:p.Asp2145Glu