Canonical Allele Identifier: CA404338671

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13255251G>T , CM000681.2:g.13255251G>T	GRCh38
NC_000019.9:g.13366065G>T , CM000681.1:g.13366065G>T	GRCh37
NC_000019.8:g.13227065G>T	NCBI36
NG_011569.1:g.256210C>A , LRG_7:g.256210C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.4599C>A MANE Select	NP_001120694.1:p.Cys1533Ter
ENST00000360228.11:c.4599C>A MANE Select	ENSP00000353362.5:p.Cys1533Ter
NM_000068.3:c.4611C>A	NP_000059.3:p.Cys1537Ter
NM_000068.4:c.4611C>A	NP_000059.3:p.Cys1537Ter
NM_001127221.1:c.4602C>A , LRG_7t1:c.4602C>A	NP_001120693.1:p.Cys1534Ter
NM_001127221.2:c.4602C>A	NP_001120693.1:p.Cys1534Ter
NM_001127222.1:c.4599C>A	NP_001120694.1:p.Cys1533Ter
NM_001174080.1:c.4602C>A	NP_001167551.1:p.Cys1534Ter
NM_001174080.2:c.4602C>A	NP_001167551.1:p.Cys1534Ter
NM_023035.2:c.4611C>A	NP_075461.2:p.Cys1537Ter
NM_023035.3:c.4611C>A	NP_075461.2:p.Cys1537Ter
ENST00000360228.9:c.4599C>A	ENSP00000353362.5:p.Cys1533Ter
ENST00000573710.6:c.4602C>A	ENSP00000460092.2:p.Cys1534Ter
ENST00000573710.7:c.4605C>A	ENSP00000460092.3:p.Cys1535Ter
ENST00000585802.5:c.657C>A	ENSP00000465598.1:p.Cys219Ter
ENST00000587525.5:c.60C>A	ENSP00000467729.1:p.Cys20Ter
ENST00000614285.4:c.4611C>A	ENSP00000479983.1:p.Cys1537Ter
ENST00000635727.1:c.4602C>A	ENSP00000490001.1:p.Cys1534Ter
ENST00000635742.1:n.588C>A
ENST00000635895.1:c.4602C>A	ENSP00000490323.1:p.Cys1534Ter
ENST00000635917.1:n.1091C>A
ENST00000636012.1:c.4602C>A	ENSP00000490223.1:p.Cys1534Ter
ENST00000636389.1:c.4602C>A	ENSP00000489992.1:p.Cys1534Ter
ENST00000636549.1:c.4602C>A	ENSP00000490578.1:p.Cys1534Ter
ENST00000636816.1:n.1287C>A
ENST00000637004.1:n.1065C>A
ENST00000637276.1:c.4602C>A	ENSP00000489777.1:p.Cys1534Ter
ENST00000637297.1:c.246+2099C>A	ENSP00000489692.1:n.246+2099C>A
ENST00000637432.1:c.4611C>A	ENSP00000490617.1:p.Cys1537Ter
ENST00000637692.1:n.921C>A
ENST00000637736.1:c.4461C>A	ENSP00000489861.1:p.Cys1487Ter
ENST00000637769.1:c.4602C>A	ENSP00000489778.1:p.Cys1534Ter
ENST00000637927.1:c.4605C>A	ENSP00000489715.1:p.Cys1535Ter
ENST00000638009.2:c.4602C>A	ENSP00000489913.1:p.Cys1534Ter
ENST00000638029.1:c.4611C>A	ENSP00000489829.1:p.Cys1537Ter
ENST00000664864.1:c.4797C>A	ENSP00000499449.1:p.Cys1599Ter