Canonical Allele Identifier: CA9239307

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13208880T>G , CM000681.2:g.13208880T>G	GRCh38
NC_000019.9:g.13319694T>G , CM000681.1:g.13319694T>G	GRCh37
NC_000019.8:g.13180694T>G	NCBI36
NG_011569.1:g.302581A>C , LRG_7:g.302581A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.6656A>C MANE Select	NP_001120694.1:p.His2219Pro
ENST00000360228.11:c.6656A>C MANE Select	ENSP00000353362.5:p.His2219Pro
NM_000068.3:c.6674A>C	NP_000059.3:p.His2225Pro
NM_000068.4:c.6674A>C	NP_000059.3:p.His2225Pro
NM_001127221.1:c.6659A>C , LRG_7t1:c.6659A>C	NP_001120693.1:p.His2220Pro
NM_001127221.2:c.6659A>C	NP_001120693.1:p.His2220Pro
NM_001127222.1:c.6656A>C	NP_001120694.1:p.His2219Pro
NM_001174080.1:c.6665A>C	NP_001167551.1:p.His2222Pro
NM_001174080.2:c.6665A>C	NP_001167551.1:p.His2222Pro
NM_023035.2:c.6674A>C	NP_075461.2:p.His2225Pro
NM_023035.3:c.6674A>C	NP_075461.2:p.His2225Pro
ENST00000360228.9:c.6656A>C	ENSP00000353362.5:p.His2219Pro
ENST00000573710.6:c.6659A>C	ENSP00000460092.2:p.His2220Pro
ENST00000573710.7:c.6662A>C	ENSP00000460092.3:p.His2221Pro
ENST00000585802.5:c.2678A>C	ENSP00000465598.1:p.His893Pro
ENST00000585802.6:c.1781A>C	ENSP00000465598.2:p.His594Pro
ENST00000587525.5:c.2081A>C	ENSP00000467729.1:p.His694Pro
ENST00000614285.4:c.6674A>C	ENSP00000479983.1:p.His2225Pro
ENST00000635727.1:c.6659A>C	ENSP00000490001.1:p.His2220Pro
ENST00000635895.1:c.6659A>C	ENSP00000490323.1:p.His2220Pro
ENST00000636012.1:c.6623A>C	ENSP00000490223.1:p.His2208Pro
ENST00000636389.1:c.6659A>C	ENSP00000489992.1:p.His2220Pro
ENST00000636473.1:c.1526A>C	ENSP00000490173.1:p.His509Pro
ENST00000636549.1:c.6665A>C	ENSP00000490578.1:p.His2222Pro
ENST00000637276.1:c.6623A>C	ENSP00000489777.1:p.His2208Pro
ENST00000637432.1:c.6674A>C	ENSP00000490617.1:p.His2225Pro
ENST00000637736.1:c.6518A>C	ENSP00000489861.1:p.His2173Pro
ENST00000637769.1:c.6659A>C	ENSP00000489778.1:p.His2220Pro
ENST00000637927.1:c.6662A>C	ENSP00000489715.1:p.His2221Pro
ENST00000638009.2:c.6659A>C	ENSP00000489913.1:p.His2220Pro
ENST00000638029.1:c.6674A>C	ENSP00000489829.1:p.His2225Pro
ENST00000664864.1:c.6860A>C	ENSP00000499449.1:p.His2287Pro