Canonical Allele Identifier: CA404332597

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13212383C>T , CM000681.2:g.13212383C>T	GRCh38
NC_000019.9:g.13323197C>T , CM000681.1:g.13323197C>T	GRCh37
NC_000019.8:g.13184197C>T	NCBI36
NG_011569.1:g.299078G>A , LRG_7:g.299078G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.6189+1G>A MANE Select	NP_001120694.1:n.6189+1G>A
ENST00000360228.11:c.6189+1G>A MANE Select	ENSP00000353362.5:n.6189+1G>A
NM_000068.3:c.6207+1G>A	NP_000059.3:n.6207+1G>A
NM_000068.4:c.6207+1G>A	NP_000059.3:n.6207+1G>A
NM_001127221.1:c.6192+1G>A , LRG_7t1:c.6192+1G>A	NP_001120693.1:n.6192+1G>A
NM_001127221.2:c.6192+1G>A	NP_001120693.1:n.6192+1G>A
NM_001127222.1:c.6189+1G>A	NP_001120694.1:n.6189+1G>A
NM_001174080.1:c.6198+1G>A	NP_001167551.1:n.6198+1G>A
NM_001174080.2:c.6198+1G>A	NP_001167551.1:n.6198+1G>A
NM_023035.2:c.6207+1G>A	NP_075461.2:n.6207+1G>A
NM_023035.3:c.6207+1G>A	NP_075461.2:n.6207+1G>A
ENST00000360228.9:c.6189+1G>A	ENSP00000353362.5:n.6189+1G>A
ENST00000573710.6:c.6192+1G>A	ENSP00000460092.2:n.6192+1G>A
ENST00000573710.7:c.6195+1G>A	ENSP00000460092.3:n.6195+1G>A
ENST00000585802.5:c.2247+1G>A	ENSP00000465598.1:n.2247+1G>A
ENST00000585802.6:c.1350+1G>A	ENSP00000465598.2:n.1350+1G>A
ENST00000587525.5:c.1650+1G>A	ENSP00000467729.1:n.1650+1G>A
ENST00000614285.4:c.6207+1G>A	ENSP00000479983.1:n.6207+1G>A
ENST00000635727.1:c.6192+1G>A	ENSP00000490001.1:n.6192+1G>A
ENST00000635895.1:c.6192+1G>A	ENSP00000490323.1:n.6192+1G>A
ENST00000636012.1:c.6192+1G>A	ENSP00000490223.1:n.6192+1G>A
ENST00000636389.1:c.6192+1G>A	ENSP00000489992.1:n.6192+1G>A
ENST00000636473.1:c.1059+1G>A	ENSP00000490173.1:n.1059+1G>A
ENST00000636549.1:c.6198+1G>A	ENSP00000490578.1:n.6198+1G>A
ENST00000636610.1:n.1106+1G>A
ENST00000636768.1:c.719+1G>A	ENSP00000490190.1:n.719+1G>A
ENST00000637276.1:c.6192+1G>A	ENSP00000489777.1:n.6192+1G>A
ENST00000637432.1:c.6207+1G>A	ENSP00000490617.1:n.6207+1G>A
ENST00000637736.1:c.6051+1G>A	ENSP00000489861.1:n.6051+1G>A
ENST00000637769.1:c.6192+1G>A	ENSP00000489778.1:n.6192+1G>A
ENST00000637927.1:c.6195+1G>A	ENSP00000489715.1:n.6195+1G>A
ENST00000638009.2:c.6192+1G>A	ENSP00000489913.1:n.6192+1G>A
ENST00000638029.1:c.6207+1G>A	ENSP00000489829.1:n.6207+1G>A
ENST00000664864.1:c.6393+1G>A	ENSP00000499449.1:n.6393+1G>A