Canonical Allele Identifier: CA404331965

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13228795G>T , CM000681.2:g.13228795G>T	GRCh38
NC_000019.9:g.13339609G>T , CM000681.1:g.13339609G>T	GRCh37
NC_000019.8:g.13200609G>T	NCBI36
NG_011569.1:g.282666C>A , LRG_7:g.282666C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5529-1268C>A MANE Select	NP_001120694.1:n.5529-1268C>A
ENST00000360228.11:c.5529-1268C>A MANE Select	ENSP00000353362.5:n.5529-1268C>A
NM_000068.3:c.5547-1268C>A	NP_000059.3:n.5547-1268C>A
NM_000068.4:c.5547-1268C>A	NP_000059.3:n.5547-1268C>A
NM_001127221.1:c.5532C>A , LRG_7t1:c.5532C>A	NP_001120693.1:p.Cys1844Ter
NM_001127221.2:c.5532C>A	NP_001120693.1:p.Cys1844Ter
NM_001127222.1:c.5529-1268C>A	NP_001120694.1:n.5529-1268C>A
NM_001174080.1:c.5538-1268C>A	NP_001167551.1:n.5538-1268C>A
NM_001174080.2:c.5538-1268C>A	NP_001167551.1:n.5538-1268C>A
NM_023035.2:c.5547-1268C>A	NP_075461.2:n.5547-1268C>A
NM_023035.3:c.5547-1268C>A	NP_075461.2:n.5547-1268C>A
ENST00000360228.9:c.5529-1268C>A	ENSP00000353362.5:n.5529-1268C>A
ENST00000573710.6:c.5532C>A	ENSP00000460092.2:p.Cys1844Ter
ENST00000573710.7:c.5535C>A	ENSP00000460092.3:p.Cys1845Ter
ENST00000585802.5:c.1587-1268C>A	ENSP00000465598.1:n.1587-1268C>A
ENST00000585802.6:c.690-1268C>A	ENSP00000465598.2:n.690-1268C>A
ENST00000587525.5:c.990C>A	ENSP00000467729.1:p.Cys330Ter
ENST00000614285.4:c.5547-1268C>A	ENSP00000479983.1:n.5547-1268C>A
ENST00000635727.1:c.5532-1268C>A	ENSP00000490001.1:n.5532-1268C>A
ENST00000635895.1:c.5532-1268C>A	ENSP00000490323.1:n.5532-1268C>A
ENST00000636012.1:c.5532-1268C>A	ENSP00000490223.1:n.5532-1268C>A
ENST00000636389.1:c.5532C>A	ENSP00000489992.1:p.Cys1844Ter
ENST00000636473.1:c.495+2915C>A	ENSP00000490173.1:n.495+2915C>A
ENST00000636549.1:c.5538-1268C>A	ENSP00000490578.1:n.5538-1268C>A
ENST00000636768.1:c.155+1287C>A	ENSP00000490190.1:n.155+1287C>A
ENST00000637276.1:c.5532-1268C>A	ENSP00000489777.1:n.5532-1268C>A
ENST00000637432.1:c.5547-1268C>A	ENSP00000490617.1:n.5547-1268C>A
ENST00000637736.1:c.5391C>A	ENSP00000489861.1:p.Cys1797Ter
ENST00000637769.1:c.5532C>A	ENSP00000489778.1:p.Cys1844Ter
ENST00000637777.1:c.723C>A
ENST00000637819.1:c.933C>A	ENSP00000490686.1:p.Cys311Ter
ENST00000637832.1:n.523C>A
ENST00000637927.1:c.5535C>A	ENSP00000489715.1:p.Cys1845Ter
ENST00000638009.2:c.5532C>A	ENSP00000489913.1:p.Cys1844Ter
ENST00000638029.1:c.5547-1268C>A	ENSP00000489829.1:n.5547-1268C>A
ENST00000664864.1:c.5733-1268C>A	ENSP00000499449.1:n.5733-1268C>A