Canonical Allele Identifier: CA2323780291

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13206527G= , CM000681.2:g.13206527G=	GRCh38
NC_000019.9:g.13317341G= , CM000681.1:g.13317341G=	GRCh37
NC_000019.8:g.13178341G=	NCBI36
NG_011569.1:g.304934C= , LRG_7:g.304934C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.*786C= MANE Select	NP_001120694.1:n.*786C=
ENST00000360228.11:c.*786C= MANE Select	ENSP00000353362.5:n.*786C=
NM_000068.3:c.*1519C=	NP_000059.3:n.*1519C=
NM_000068.4:c.*1519C=	NP_000059.3:n.*1519C=
NM_001127221.1:c.*1519C= , LRG_7t1:c.*1519C=	NP_001120693.1:n.*1519C=
NM_001127221.2:c.*1519C=	NP_001120693.1:n.*1519C=
NM_001127222.1:c.*786C=	NP_001120694.1:n.*786C=
NM_001174080.1:c.*1519C=	NP_001167551.1:n.*1519C=
NM_001174080.2:c.*1519C=	NP_001167551.1:n.*1519C=
NM_023035.2:c.*786C=	NP_075461.2:n.*786C=
NM_023035.3:c.*786C=	NP_075461.2:n.*786C=
ENST00000360228.9:c.8307C=	ENSP00000353362.5:n.8307C=
ENST00000587525.5:c.3732C=	ENSP00000467729.1:n.3732C=
ENST00000614285.4:c.8325C=	ENSP00000479983.1:n.8325C=
ENST00000635895.1:c.*1519C=	ENSP00000490323.1:n.*1519C=
ENST00000637769.1:c.*786C=	ENSP00000489778.1:n.*786C=
ENST00000638009.2:c.*1519C=	ENSP00000489913.1:n.*1519C=