Canonical Allele Identifier: CA2323830110

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13308452C= , CM000681.2:g.13308452C=	GRCh38
NC_000019.9:g.13419266C= , CM000681.1:g.13419266C=	GRCh37
NC_000019.8:g.13280266C=	NCBI36
NG_011569.1:g.203009G= , LRG_7:g.203009G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.1745G= MANE Select	NP_001120694.1:p.Arg582=
ENST00000360228.11:c.1745G= MANE Select	ENSP00000353362.5:p.Arg582=
NM_000068.3:c.1748G=	NP_000059.3:p.Arg583=
NM_000068.4:c.1748G=	NP_000059.3:p.Arg583=
NM_001127221.1:c.1748G= , LRG_7t1:c.1748G=	NP_001120693.1:p.Arg583=
NM_001127221.2:c.1748G=	NP_001120693.1:p.Arg583=
NM_001127222.1:c.1745G=	NP_001120694.1:p.Arg582=
NM_001174080.1:c.1748G=	NP_001167551.1:p.Arg583=
NM_001174080.2:c.1748G=	NP_001167551.1:p.Arg583=
NM_023035.2:c.1748G=	NP_075461.2:p.Arg583=
NM_023035.3:c.1748G=	NP_075461.2:p.Arg583=
ENST00000360228.9:c.1745G=	ENSP00000353362.5:p.Arg582=
ENST00000573710.6:c.1748G=	ENSP00000460092.2:p.Arg583=
ENST00000573710.7:c.1751G=	ENSP00000460092.3:p.Arg584=
ENST00000614285.4:c.1748G=	ENSP00000479983.1:p.Arg583=
ENST00000635727.1:c.1748G=	ENSP00000490001.1:p.Arg583=
ENST00000635895.1:c.1748G=	ENSP00000490323.1:p.Arg583=
ENST00000636012.1:c.1748G=	ENSP00000490223.1:p.Arg583=
ENST00000636389.1:c.1748G=	ENSP00000489992.1:p.Arg583=
ENST00000636549.1:c.1748G=	ENSP00000490578.1:p.Arg583=
ENST00000636974.1:n.1107G=
ENST00000637117.1:n.380G=
ENST00000637276.1:c.1748G=	ENSP00000489777.1:p.Arg583=
ENST00000637432.1:c.1748G=	ENSP00000490617.1:p.Arg583=
ENST00000637736.1:c.1607G=	ENSP00000489861.1:p.Arg536=
ENST00000637769.1:c.1748G=	ENSP00000489778.1:p.Arg583=
ENST00000637927.1:c.1751G=	ENSP00000489715.1:p.Arg584=
ENST00000637966.1:n.1601G=
ENST00000638009.2:c.1748G=	ENSP00000489913.1:p.Arg583=
ENST00000638029.1:c.1748G=	ENSP00000489829.1:p.Arg583=
ENST00000664864.1:c.1943G=	ENSP00000499449.1:p.Arg648=