Canonical Allele Identifier: CA9239730

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13230158G>C , CM000681.2:g.13230158G>C	GRCh38
NC_000019.9:g.13340972G>C , CM000681.1:g.13340972G>C	GRCh37
NC_000019.8:g.13201972G>C	NCBI36
NG_011569.1:g.281303C>G , LRG_7:g.281303C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5452C>G MANE Select	NP_001120694.1:p.Arg1818Gly
ENST00000360228.11:c.5452C>G MANE Select	ENSP00000353362.5:p.Arg1818Gly
NM_000068.3:c.5470C>G	NP_000059.3:p.Arg1824Gly
NM_000068.4:c.5470C>G	NP_000059.3:p.Arg1824Gly
NM_001127221.1:c.5455C>G , LRG_7t1:c.5455C>G	NP_001120693.1:p.Arg1819Gly
NM_001127221.2:c.5455C>G	NP_001120693.1:p.Arg1819Gly
NM_001127222.1:c.5452C>G	NP_001120694.1:p.Arg1818Gly
NM_001174080.1:c.5461C>G	NP_001167551.1:p.Arg1821Gly
NM_001174080.2:c.5461C>G	NP_001167551.1:p.Arg1821Gly
NM_023035.2:c.5470C>G	NP_075461.2:p.Arg1824Gly
NM_023035.3:c.5470C>G	NP_075461.2:p.Arg1824Gly
ENST00000360228.9:c.5452C>G	ENSP00000353362.5:p.Arg1818Gly
ENST00000573710.6:c.5455C>G	ENSP00000460092.2:p.Arg1819Gly
ENST00000573710.7:c.5458C>G	ENSP00000460092.3:p.Arg1820Gly
ENST00000573891.6:c.871C>G
ENST00000574822.5:n.676C>G
ENST00000574822.6:n.676C>G
ENST00000585802.5:c.1510C>G	ENSP00000465598.1:p.Arg504Gly
ENST00000585802.6:c.613C>G	ENSP00000465598.2:p.Arg205Gly
ENST00000587525.5:c.913C>G	ENSP00000467729.1:p.Arg305Gly
ENST00000614285.4:c.5470C>G	ENSP00000479983.1:p.Arg1824Gly
ENST00000635727.1:c.5455C>G	ENSP00000490001.1:p.Arg1819Gly
ENST00000635742.1:n.1441C>G
ENST00000635895.1:c.5455C>G	ENSP00000490323.1:p.Arg1819Gly
ENST00000636012.1:c.5455C>G	ENSP00000490223.1:p.Arg1819Gly
ENST00000636389.1:c.5455C>G	ENSP00000489992.1:p.Arg1819Gly
ENST00000636473.1:c.495+1552C>G	ENSP00000490173.1:n.495+1552C>G
ENST00000636549.1:c.5461C>G	ENSP00000490578.1:p.Arg1821Gly
ENST00000636768.1:c.79C>G	ENSP00000490190.1:p.Arg27Gly
ENST00000637276.1:c.5455C>G	ENSP00000489777.1:p.Arg1819Gly
ENST00000637432.1:c.5470C>G	ENSP00000490617.1:p.Arg1824Gly
ENST00000637736.1:c.5314C>G	ENSP00000489861.1:p.Arg1772Gly
ENST00000637769.1:c.5455C>G	ENSP00000489778.1:p.Arg1819Gly
ENST00000637777.1:c.646C>G
ENST00000637809.1:n.845C>G
ENST00000637819.1:c.856C>G	ENSP00000490686.1:p.Arg286Gly
ENST00000637832.1:n.446C>G
ENST00000637927.1:c.5458C>G	ENSP00000489715.1:p.Arg1820Gly
ENST00000638009.2:c.5455C>G	ENSP00000489913.1:p.Arg1819Gly
ENST00000638029.1:c.5470C>G	ENSP00000489829.1:p.Arg1824Gly
ENST00000664864.1:c.5656C>G	ENSP00000499449.1:p.Arg1886Gly