Canonical Allele Identifier: CA9239363

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13209390G>A , CM000681.2:g.13209390G>A	GRCh38
NC_000019.9:g.13320204G>A , CM000681.1:g.13320204G>A	GRCh37
NC_000019.8:g.13181204G>A	NCBI36
NG_011569.1:g.302071C>T , LRG_7:g.302071C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.6448C>T MANE Select	NP_001120694.1:p.Arg2150Trp
ENST00000360228.11:c.6448C>T MANE Select	ENSP00000353362.5:p.Arg2150Trp
NM_000068.3:c.6466C>T	NP_000059.3:p.Arg2156Trp
NM_000068.4:c.6466C>T	NP_000059.3:p.Arg2156Trp
NM_001127221.1:c.6451C>T , LRG_7t1:c.6451C>T	NP_001120693.1:p.Arg2151Trp
NM_001127221.2:c.6451C>T	NP_001120693.1:p.Arg2151Trp
NM_001127222.1:c.6448C>T	NP_001120694.1:p.Arg2150Trp
NM_001174080.1:c.6457C>T	NP_001167551.1:p.Arg2153Trp
NM_001174080.2:c.6457C>T	NP_001167551.1:p.Arg2153Trp
NM_023035.2:c.6466C>T	NP_075461.2:p.Arg2156Trp
NM_023035.3:c.6466C>T	NP_075461.2:p.Arg2156Trp
ENST00000360228.9:c.6448C>T	ENSP00000353362.5:p.Arg2150Trp
ENST00000573710.6:c.6451C>T	ENSP00000460092.2:p.Arg2151Trp
ENST00000573710.7:c.6454C>T	ENSP00000460092.3:p.Arg2152Trp
ENST00000585802.5:c.2470C>T	ENSP00000465598.1:p.Arg824Trp
ENST00000585802.6:c.1573C>T	ENSP00000465598.2:p.Arg525Trp
ENST00000587525.5:c.1873C>T	ENSP00000467729.1:p.Arg625Trp
ENST00000614285.4:c.6466C>T	ENSP00000479983.1:p.Arg2156Trp
ENST00000635727.1:c.6451C>T	ENSP00000490001.1:p.Arg2151Trp
ENST00000635895.1:c.6451C>T	ENSP00000490323.1:p.Arg2151Trp
ENST00000636012.1:c.6415C>T	ENSP00000490223.1:p.Arg2139Trp
ENST00000636389.1:c.6451C>T	ENSP00000489992.1:p.Arg2151Trp
ENST00000636473.1:c.1318C>T	ENSP00000490173.1:p.Arg440Trp
ENST00000636549.1:c.6457C>T	ENSP00000490578.1:p.Arg2153Trp
ENST00000636610.1:n.2815C>T
ENST00000636768.1:c.942C>T	ENSP00000490190.1:n.942C>T
ENST00000637276.1:c.6415C>T	ENSP00000489777.1:p.Arg2139Trp
ENST00000637432.1:c.6466C>T	ENSP00000490617.1:p.Arg2156Trp
ENST00000637736.1:c.6310C>T	ENSP00000489861.1:p.Arg2104Trp
ENST00000637769.1:c.6451C>T	ENSP00000489778.1:p.Arg2151Trp
ENST00000637927.1:c.6454C>T	ENSP00000489715.1:p.Arg2152Trp
ENST00000638009.2:c.6451C>T	ENSP00000489913.1:p.Arg2151Trp
ENST00000638029.1:c.6466C>T	ENSP00000489829.1:p.Arg2156Trp
ENST00000664864.1:c.6652C>T	ENSP00000499449.1:p.Arg2218Trp