Canonical Allele Identifier: CA2323795590

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235211G= , CM000681.2:g.13235211G=	GRCh38
NC_000019.9:g.13346025G= , CM000681.1:g.13346025G=	GRCh37
NC_000019.8:g.13207025G=	NCBI36
NG_011569.1:g.276250C= , LRG_7:g.276250C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5131C= MANE Select	NP_001120694.1:p.Gln1711=
ENST00000360228.11:c.5131C= MANE Select	ENSP00000353362.5:p.Gln1711=
NM_000068.3:c.5149C=	NP_000059.3:p.Gln1717=
NM_000068.4:c.5149C=	NP_000059.3:p.Gln1717=
NM_001127221.1:c.5134C= , LRG_7t1:c.5134C=	NP_001120693.1:p.Gln1712=
NM_001127221.2:c.5134C=	NP_001120693.1:p.Gln1712=
NM_001127222.1:c.5131C=	NP_001120694.1:p.Gln1711=
NM_001174080.1:c.5140C=	NP_001167551.1:p.Gln1714=
NM_001174080.2:c.5140C=	NP_001167551.1:p.Gln1714=
NM_023035.2:c.5149C=	NP_075461.2:p.Gln1717=
NM_023035.3:c.5149C=	NP_075461.2:p.Gln1717=
ENST00000360228.9:c.5131C=	ENSP00000353362.5:p.Gln1711=
ENST00000573710.6:c.5134C=	ENSP00000460092.2:p.Gln1712=
ENST00000573710.7:c.5137C=	ENSP00000460092.3:p.Gln1713=
ENST00000573891.5:c.550C=
ENST00000573891.6:c.550C=
ENST00000574822.5:n.355C=
ENST00000574822.6:n.355C=
ENST00000585802.5:c.1189C=	ENSP00000465598.1:p.Gln397=
ENST00000585802.6:c.292C=	ENSP00000465598.2:p.Gln98=
ENST00000587525.5:c.592C=	ENSP00000467729.1:p.Gln198=
ENST00000593267.1:n.336C=
ENST00000593267.2:n.336C=
ENST00000614285.4:c.5149C=	ENSP00000479983.1:p.Gln1717=
ENST00000635727.1:c.5134C=	ENSP00000490001.1:p.Gln1712=
ENST00000635742.1:n.1120C=
ENST00000635895.1:c.5134C=	ENSP00000490323.1:p.Gln1712=
ENST00000636012.1:c.5134C=	ENSP00000490223.1:p.Gln1712=
ENST00000636058.1:c.446C=
ENST00000636389.1:c.5134C=	ENSP00000489992.1:p.Gln1712=
ENST00000636473.1:c.229-175C=	ENSP00000490173.1:n.229-175C=
ENST00000636549.1:c.5140C=	ENSP00000490578.1:p.Gln1714=
ENST00000637276.1:c.5134C=	ENSP00000489777.1:p.Gln1712=
ENST00000637297.1:c.427C=	ENSP00000489692.1:p.Gln143=
ENST00000637432.1:c.5149C=	ENSP00000490617.1:p.Gln1717=
ENST00000637736.1:c.4993C=	ENSP00000489861.1:p.Gln1665=
ENST00000637769.1:c.5134C=	ENSP00000489778.1:p.Gln1712=
ENST00000637777.1:c.328-175C=
ENST00000637809.1:n.524C=
ENST00000637819.1:c.535C=	ENSP00000490686.1:p.Gln179=
ENST00000637832.1:n.125C=
ENST00000637927.1:c.5137C=	ENSP00000489715.1:p.Gln1713=
ENST00000638009.2:c.5134C=	ENSP00000489913.1:p.Gln1712=
ENST00000638029.1:c.5149C=	ENSP00000489829.1:p.Gln1717=
ENST00000664864.1:c.5335C=	ENSP00000499449.1:p.Gln1779=