Canonical Allele Identifier: CA2813672101

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262694A>G , CM000681.2:g.13262694A>G	GRCh38
NC_000019.9:g.13373508A>G , CM000681.1:g.13373508A>G	GRCh37
NC_000019.8:g.13234508A>G	NCBI36
NG_011569.1:g.248767T>C , LRG_7:g.248767T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4089+40T>C MANE Select	ENSP00000353362.5:n.4089+40T>C
ENST00000573710.7:c.4095+40T>C	ENSP00000460092.3:n.4095+40T>C
ENST00000590205.2:n.12T>C
ENST00000635727.1:c.4092+40T>C	ENSP00000490001.1:n.4092+40T>C
ENST00000635742.1:n.78+40T>C
ENST00000635895.1:c.4092+40T>C	ENSP00000490323.1:n.4092+40T>C
ENST00000635917.1:n.581+40T>C
ENST00000636012.1:c.4092+40T>C	ENSP00000490223.1:n.4092+40T>C
ENST00000636389.1:c.4092+40T>C	ENSP00000489992.1:n.4092+40T>C
ENST00000636549.1:c.4092+40T>C	ENSP00000490578.1:n.4092+40T>C
ENST00000636816.1:n.777+40T>C
ENST00000637004.1:n.555+40T>C
ENST00000637276.1:c.4092+40T>C	ENSP00000489777.1:n.4092+40T>C
ENST00000637432.1:c.4101+40T>C	ENSP00000490617.1:n.4101+40T>C
ENST00000637692.1:n.411+40T>C
ENST00000637736.1:c.3951+40T>C	ENSP00000489861.1:n.3951+40T>C
ENST00000637769.1:c.4092+40T>C	ENSP00000489778.1:n.4092+40T>C
ENST00000637927.1:c.4095+40T>C	ENSP00000489715.1:n.4095+40T>C
ENST00000638009.2:c.4092+40T>C	ENSP00000489913.1:n.4092+40T>C
ENST00000638029.1:c.4101+40T>C	ENSP00000489829.1:n.4101+40T>C
ENST00000664864.1:c.4287+40T>C	ENSP00000499449.1:n.4287+40T>C
ENST00000360228.9:c.4089+40T>C	ENSP00000353362.5:n.4089+40T>C
ENST00000573710.6:c.4092+40T>C	ENSP00000460092.2:n.4092+40T>C
ENST00000585802.5:c.147+40T>C	ENSP00000465598.1:n.147+40T>C
ENST00000590205.1:n.168+40T>C
ENST00000614285.4:c.4101+40T>C	ENSP00000479983.1:n.4101+40T>C
NM_000068.3:c.4101+40T>C	NP_000059.3:n.4101+40T>C
NM_001127221.1:c.4092+40T>C , LRG_7t1:c.4092+40T>C	NP_001120693.1:n.4092+40T>C
NM_001127222.1:c.4089+40T>C	NP_001120694.1:n.4089+40T>C
NM_001174080.1:c.4092+40T>C	NP_001167551.1:n.4092+40T>C
NM_023035.2:c.4101+40T>C	NP_075461.2:n.4101+40T>C
NM_000068.4:c.4101+40T>C	NP_000059.3:n.4101+40T>C
NM_001127222.2:c.4089+40T>C MANE Select	NP_001120694.1:n.4089+40T>C
NM_001174080.2:c.4092+40T>C	NP_001167551.1:n.4092+40T>C
NM_023035.3:c.4101+40T>C	NP_075461.2:n.4101+40T>C
NM_001127221.2:c.4092+40T>C	NP_001120693.1:n.4092+40T>C