Canonical Allele Identifier: CA404335589

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13234954C>G , CM000681.2:g.13234954C>G	GRCh38
NC_000019.9:g.13345768C>G , CM000681.1:g.13345768C>G	GRCh37
NC_000019.8:g.13206768C>G	NCBI36
NG_011569.1:g.276507G>C , LRG_7:g.276507G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5216G>C MANE Select	NP_001120694.1:p.Arg1739Pro
ENST00000360228.11:c.5216G>C MANE Select	ENSP00000353362.5:p.Arg1739Pro
NM_000068.3:c.5234G>C	NP_000059.3:p.Arg1745Pro
NM_000068.4:c.5234G>C	NP_000059.3:p.Arg1745Pro
NM_001127221.1:c.5219G>C , LRG_7t1:c.5219G>C	NP_001120693.1:p.Arg1740Pro
NM_001127221.2:c.5219G>C	NP_001120693.1:p.Arg1740Pro
NM_001127222.1:c.5216G>C	NP_001120694.1:p.Arg1739Pro
NM_001174080.1:c.5225G>C	NP_001167551.1:p.Arg1742Pro
NM_001174080.2:c.5225G>C	NP_001167551.1:p.Arg1742Pro
NM_023035.2:c.5234G>C	NP_075461.2:p.Arg1745Pro
NM_023035.3:c.5234G>C	NP_075461.2:p.Arg1745Pro
ENST00000360228.9:c.5216G>C	ENSP00000353362.5:p.Arg1739Pro
ENST00000573710.6:c.5219G>C	ENSP00000460092.2:p.Arg1740Pro
ENST00000573710.7:c.5222G>C	ENSP00000460092.3:p.Arg1741Pro
ENST00000573891.5:c.635G>C
ENST00000573891.6:c.635G>C
ENST00000574822.5:n.440G>C
ENST00000574822.6:n.440G>C
ENST00000585802.5:c.1274G>C	ENSP00000465598.1:p.Arg425Pro
ENST00000585802.6:c.377G>C	ENSP00000465598.2:p.Arg126Pro
ENST00000587525.5:c.677G>C	ENSP00000467729.1:p.Arg226Pro
ENST00000593267.1:n.421G>C
ENST00000593267.2:n.421G>C
ENST00000614285.4:c.5234G>C	ENSP00000479983.1:p.Arg1745Pro
ENST00000635727.1:c.5219G>C	ENSP00000490001.1:p.Arg1740Pro
ENST00000635742.1:n.1205G>C
ENST00000635895.1:c.5219G>C	ENSP00000490323.1:p.Arg1740Pro
ENST00000636012.1:c.5219G>C	ENSP00000490223.1:p.Arg1740Pro
ENST00000636058.1:c.531G>C
ENST00000636389.1:c.5219G>C	ENSP00000489992.1:p.Arg1740Pro
ENST00000636473.1:c.311G>C	ENSP00000490173.1:p.Arg104Pro
ENST00000636549.1:c.5225G>C	ENSP00000490578.1:p.Arg1742Pro
ENST00000637276.1:c.5219G>C	ENSP00000489777.1:p.Arg1740Pro
ENST00000637297.1:c.512G>C	ENSP00000489692.1:p.Arg171Pro
ENST00000637432.1:c.5234G>C	ENSP00000490617.1:p.Arg1745Pro
ENST00000637736.1:c.5078G>C	ENSP00000489861.1:p.Arg1693Pro
ENST00000637769.1:c.5219G>C	ENSP00000489778.1:p.Arg1740Pro
ENST00000637777.1:c.410G>C
ENST00000637809.1:n.609G>C
ENST00000637819.1:c.620G>C	ENSP00000490686.1:p.Arg207Pro
ENST00000637832.1:n.210G>C
ENST00000637927.1:c.5222G>C	ENSP00000489715.1:p.Arg1741Pro
ENST00000638009.2:c.5219G>C	ENSP00000489913.1:p.Arg1740Pro
ENST00000638029.1:c.5234G>C	ENSP00000489829.1:p.Arg1745Pro
ENST00000664864.1:c.5420G>C	ENSP00000499449.1:p.Arg1807Pro