Canonical Allele Identifier: CA305550452

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13212140C>T , CM000681.2:g.13212140C>T	GRCh38
NC_000019.9:g.13322954C>T , CM000681.1:g.13322954C>T	GRCh37
NC_000019.8:g.13183954C>T	NCBI36
NG_011569.1:g.299321G>A , LRG_7:g.299321G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.6266G>A MANE Select	NP_001120694.1:p.Arg2089Gln
ENST00000360228.11:c.6266G>A MANE Select	ENSP00000353362.5:p.Arg2089Gln
NM_000068.3:c.6284G>A	NP_000059.3:p.Arg2095Gln
NM_000068.4:c.6284G>A	NP_000059.3:p.Arg2095Gln
NM_001127221.1:c.6269G>A , LRG_7t1:c.6269G>A	NP_001120693.1:p.Arg2090Gln
NM_001127221.2:c.6269G>A	NP_001120693.1:p.Arg2090Gln
NM_001127222.1:c.6266G>A	NP_001120694.1:p.Arg2089Gln
NM_001174080.1:c.6275G>A	NP_001167551.1:p.Arg2092Gln
NM_001174080.2:c.6275G>A	NP_001167551.1:p.Arg2092Gln
NM_023035.2:c.6284G>A	NP_075461.2:p.Arg2095Gln
NM_023035.3:c.6284G>A	NP_075461.2:p.Arg2095Gln
ENST00000360228.9:c.6266G>A	ENSP00000353362.5:p.Arg2089Gln
ENST00000573710.6:c.6269G>A	ENSP00000460092.2:p.Arg2090Gln
ENST00000573710.7:c.6272G>A	ENSP00000460092.3:p.Arg2091Gln
ENST00000585802.5:c.2324G>A	ENSP00000465598.1:p.Arg775Gln
ENST00000585802.6:c.1427G>A	ENSP00000465598.2:p.Arg476Gln
ENST00000587525.5:c.1727G>A	ENSP00000467729.1:p.Arg576Gln
ENST00000614285.4:c.6284G>A	ENSP00000479983.1:p.Arg2095Gln
ENST00000635727.1:c.6269G>A	ENSP00000490001.1:p.Arg2090Gln
ENST00000635895.1:c.6269G>A	ENSP00000490323.1:p.Arg2090Gln
ENST00000636012.1:c.6269G>A	ENSP00000490223.1:p.Arg2090Gln
ENST00000636389.1:c.6269G>A	ENSP00000489992.1:p.Arg2090Gln
ENST00000636473.1:c.1136G>A	ENSP00000490173.1:p.Arg379Gln
ENST00000636549.1:c.6275G>A	ENSP00000490578.1:p.Arg2092Gln
ENST00000636610.1:n.1183G>A
ENST00000636768.1:c.796G>A	ENSP00000490190.1:n.796G>A
ENST00000637276.1:c.6269G>A	ENSP00000489777.1:p.Arg2090Gln
ENST00000637432.1:c.6284G>A	ENSP00000490617.1:p.Arg2095Gln
ENST00000637736.1:c.6128G>A	ENSP00000489861.1:p.Arg2043Gln
ENST00000637769.1:c.6269G>A	ENSP00000489778.1:p.Arg2090Gln
ENST00000637927.1:c.6272G>A	ENSP00000489715.1:p.Arg2091Gln
ENST00000638009.2:c.6269G>A	ENSP00000489913.1:p.Arg2090Gln
ENST00000638029.1:c.6284G>A	ENSP00000489829.1:p.Arg2095Gln
ENST00000664864.1:c.6470G>A	ENSP00000499449.1:p.Arg2157Gln