Canonical Allele Identifier: CA2323793778

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231708A= , CM000681.2:g.13231708A=	GRCh38
NC_000019.9:g.13342522A= , CM000681.1:g.13342522A=	GRCh37
NC_000019.8:g.13203522A=	NCBI36
NG_011569.1:g.279753T= , LRG_7:g.279753T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5400+2T= MANE Select	NP_001120694.1:n.5400+2T=
ENST00000360228.11:c.5400+2T= MANE Select	ENSP00000353362.5:n.5400+2T=
NM_000068.3:c.5418+2T=	NP_000059.3:n.5418+2T=
NM_000068.4:c.5418+2T=	NP_000059.3:n.5418+2T=
NM_001127221.1:c.5403+2T= , LRG_7t1:c.5403+2T=	NP_001120693.1:n.5403+2T=
NM_001127221.2:c.5403+2T=	NP_001120693.1:n.5403+2T=
NM_001127222.1:c.5400+2T=	NP_001120694.1:n.5400+2T=
NM_001174080.1:c.5409+2T=	NP_001167551.1:n.5409+2T=
NM_001174080.2:c.5409+2T=	NP_001167551.1:n.5409+2T=
NM_023035.2:c.5418+2T=	NP_075461.2:n.5418+2T=
NM_023035.3:c.5418+2T=	NP_075461.2:n.5418+2T=
ENST00000360228.9:c.5400+2T=	ENSP00000353362.5:n.5400+2T=
ENST00000573710.6:c.5403+2T=	ENSP00000460092.2:n.5403+2T=
ENST00000573710.7:c.5406+2T=	ENSP00000460092.3:n.5406+2T=
ENST00000573891.6:c.819+2T=
ENST00000574822.5:n.624+2T=
ENST00000574822.6:n.624+2T=
ENST00000585802.5:c.1458+2T=	ENSP00000465598.1:n.1458+2T=
ENST00000585802.6:c.561+2T=	ENSP00000465598.2:n.561+2T=
ENST00000587525.5:c.861+2T=	ENSP00000467729.1:n.861+2T=
ENST00000614285.4:c.5418+2T=	ENSP00000479983.1:n.5418+2T=
ENST00000635727.1:c.5403+2T=	ENSP00000490001.1:n.5403+2T=
ENST00000635742.1:n.1389+2T=
ENST00000635895.1:c.5403+2T=	ENSP00000490323.1:n.5403+2T=
ENST00000636012.1:c.5403+2T=	ENSP00000490223.1:n.5403+2T=
ENST00000636389.1:c.5403+2T=	ENSP00000489992.1:n.5403+2T=
ENST00000636473.1:c.495+2T=	ENSP00000490173.1:n.495+2T=
ENST00000636549.1:c.5409+2T=	ENSP00000490578.1:n.5409+2T=
ENST00000636768.1:c.27+2T=	ENSP00000490190.1:n.27+2T=
ENST00000637276.1:c.5403+2T=	ENSP00000489777.1:n.5403+2T=
ENST00000637432.1:c.5418+2T=	ENSP00000490617.1:n.5418+2T=
ENST00000637736.1:c.5262+2T=	ENSP00000489861.1:n.5262+2T=
ENST00000637769.1:c.5403+2T=	ENSP00000489778.1:n.5403+2T=
ENST00000637777.1:c.594+2T=
ENST00000637809.1:n.793+2T=
ENST00000637819.1:c.804+2T=	ENSP00000490686.1:n.804+2T=
ENST00000637832.1:n.394+2T=
ENST00000637927.1:c.5406+2T=	ENSP00000489715.1:n.5406+2T=
ENST00000638009.2:c.5403+2T=	ENSP00000489913.1:n.5403+2T=
ENST00000638029.1:c.5418+2T=	ENSP00000489829.1:n.5418+2T=
ENST00000664864.1:c.5604+2T=	ENSP00000499449.1:n.5604+2T=