Canonical Allele Identifier: CA2323808357

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13261370A= , CM000681.2:g.13261370A=	GRCh38
NC_000019.9:g.13372184A= , CM000681.1:g.13372184A=	GRCh37
NC_000019.8:g.13233184A=	NCBI36
NG_011569.1:g.250091T= , LRG_7:g.250091T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4250+80T= MANE Select	ENSP00000353362.5:n.4250+80T=
ENST00000573710.7:c.4256+80T=	ENSP00000460092.3:n.4256+80T=
ENST00000590205.2:n.1336T=
ENST00000635727.1:c.4253+80T=	ENSP00000490001.1:n.4253+80T=
ENST00000635742.1:n.239+80T=
ENST00000635895.1:c.4253+80T=	ENSP00000490323.1:n.4253+80T=
ENST00000635917.1:n.742+80T=
ENST00000636012.1:c.4253+80T=	ENSP00000490223.1:n.4253+80T=
ENST00000636389.1:c.4253+80T=	ENSP00000489992.1:n.4253+80T=
ENST00000636549.1:c.4253+80T=	ENSP00000490578.1:n.4253+80T=
ENST00000636816.1:n.938+80T=
ENST00000637004.1:n.716+80T=
ENST00000637276.1:c.4253+80T=	ENSP00000489777.1:n.4253+80T=
ENST00000637432.1:c.4262+80T=	ENSP00000490617.1:n.4262+80T=
ENST00000637692.1:n.572+80T=
ENST00000637736.1:c.4112+80T=	ENSP00000489861.1:n.4112+80T=
ENST00000637769.1:c.4253+80T=	ENSP00000489778.1:n.4253+80T=
ENST00000637927.1:c.4256+80T=	ENSP00000489715.1:n.4256+80T=
ENST00000638009.2:c.4253+80T=	ENSP00000489913.1:n.4253+80T=
ENST00000638029.1:c.4262+80T=	ENSP00000489829.1:n.4262+80T=
ENST00000664864.1:c.4448+80T=	ENSP00000499449.1:n.4448+80T=
ENST00000360228.9:c.4250+80T=	ENSP00000353362.5:n.4250+80T=
ENST00000573710.6:c.4253+80T=	ENSP00000460092.2:n.4253+80T=
ENST00000585802.5:c.308+80T=	ENSP00000465598.1:n.308+80T=
ENST00000614285.4:c.4262+80T=	ENSP00000479983.1:n.4262+80T=
NM_000068.3:c.4262+80T=	NP_000059.3:n.4262+80T=
NM_001127221.1:c.4253+80T= , LRG_7t1:c.4253+80T=	NP_001120693.1:n.4253+80T=
NM_001127222.1:c.4250+80T=	NP_001120694.1:n.4250+80T=
NM_001174080.1:c.4253+80T=	NP_001167551.1:n.4253+80T=
NM_023035.2:c.4262+80T=	NP_075461.2:n.4262+80T=
NM_000068.4:c.4262+80T=	NP_000059.3:n.4262+80T=
NM_001127222.2:c.4250+80T= MANE Select	NP_001120694.1:n.4250+80T=
NM_001174080.2:c.4253+80T=	NP_001167551.1:n.4253+80T=
NM_023035.3:c.4262+80T=	NP_075461.2:n.4262+80T=
NM_001127221.2:c.4253+80T=	NP_001120693.1:n.4253+80T=