Canonical Allele Identifier: CA2323795783

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235693C= , CM000681.2:g.13235693C=	GRCh38
NC_000019.9:g.13346507C= , CM000681.1:g.13346507C=	GRCh37
NC_000019.8:g.13207507C=	NCBI36
NG_011569.1:g.275768G= , LRG_7:g.275768G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.4988G= MANE Select	NP_001120694.1:p.Arg1663=
ENST00000360228.11:c.4988G= MANE Select	ENSP00000353362.5:p.Arg1663=
NM_000068.3:c.5006G=	NP_000059.3:p.Arg1669=
NM_000068.4:c.5006G=	NP_000059.3:p.Arg1669=
NM_001127221.1:c.4991G= , LRG_7t1:c.4991G=	NP_001120693.1:p.Arg1664=
NM_001127221.2:c.4991G=	NP_001120693.1:p.Arg1664=
NM_001127222.1:c.4988G=	NP_001120694.1:p.Arg1663=
NM_001174080.1:c.4997G=	NP_001167551.1:p.Arg1666=
NM_001174080.2:c.4997G=	NP_001167551.1:p.Arg1666=
NM_023035.2:c.5006G=	NP_075461.2:p.Arg1669=
NM_023035.3:c.5006G=	NP_075461.2:p.Arg1669=
ENST00000360228.9:c.4988G=	ENSP00000353362.5:p.Arg1663=
ENST00000573710.6:c.4991G=	ENSP00000460092.2:p.Arg1664=
ENST00000573710.7:c.4994G=	ENSP00000460092.3:p.Arg1665=
ENST00000573891.5:c.407G=
ENST00000573891.6:c.407G=
ENST00000574822.5:n.212G=
ENST00000574822.6:n.212G=
ENST00000585802.5:c.1046G=	ENSP00000465598.1:p.Arg349=
ENST00000585802.6:c.149G=	ENSP00000465598.2:p.Arg50=
ENST00000587525.5:c.449G=	ENSP00000467729.1:p.Arg150=
ENST00000593267.1:n.193G=
ENST00000593267.2:n.193G=
ENST00000614285.4:c.5006G=	ENSP00000479983.1:p.Arg1669=
ENST00000635727.1:c.4991G=	ENSP00000490001.1:p.Arg1664=
ENST00000635742.1:n.977G=
ENST00000635895.1:c.4991G=	ENSP00000490323.1:p.Arg1664=
ENST00000636012.1:c.4991G=	ENSP00000490223.1:p.Arg1664=
ENST00000636058.1:c.303G=
ENST00000636389.1:c.4991G=	ENSP00000489992.1:p.Arg1664=
ENST00000636473.1:c.149G=	ENSP00000490173.1:p.Arg50=
ENST00000636549.1:c.4997G=	ENSP00000490578.1:p.Arg1666=
ENST00000637276.1:c.4991G=	ENSP00000489777.1:p.Arg1664=
ENST00000637297.1:c.284G=	ENSP00000489692.1:p.Arg95=
ENST00000637432.1:c.5006G=	ENSP00000490617.1:p.Arg1669=
ENST00000637736.1:c.4850G=	ENSP00000489861.1:p.Arg1617=
ENST00000637769.1:c.4991G=	ENSP00000489778.1:p.Arg1664=
ENST00000637777.1:c.248G=
ENST00000637809.1:n.381G=
ENST00000637819.1:c.392G=	ENSP00000490686.1:p.Arg131=
ENST00000637927.1:c.4994G=	ENSP00000489715.1:p.Arg1665=
ENST00000638009.2:c.4991G=	ENSP00000489913.1:p.Arg1664=
ENST00000638029.1:c.5006G=	ENSP00000489829.1:p.Arg1669=
ENST00000664864.1:c.5192G=	ENSP00000499449.1:p.Arg1731=