Canonical Allele Identifier: CA9239284

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13208820C>T , CM000681.2:g.13208820C>T	GRCh38
NC_000019.9:g.13319634C>T , CM000681.1:g.13319634C>T	GRCh37
NC_000019.8:g.13180634C>T	NCBI36
NG_011569.1:g.302641G>A , LRG_7:g.302641G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.6716G>A MANE Select	NP_001120694.1:p.Arg2239Gln
ENST00000360228.11:c.6716G>A MANE Select	ENSP00000353362.5:p.Arg2239Gln
NM_000068.3:c.6734G>A	NP_000059.3:p.Arg2245Gln
NM_000068.4:c.6734G>A	NP_000059.3:p.Arg2245Gln
NM_001127221.1:c.6719G>A , LRG_7t1:c.6719G>A	NP_001120693.1:p.Arg2240Gln
NM_001127221.2:c.6719G>A	NP_001120693.1:p.Arg2240Gln
NM_001127222.1:c.6716G>A	NP_001120694.1:p.Arg2239Gln
NM_001174080.1:c.6725G>A	NP_001167551.1:p.Arg2242Gln
NM_001174080.2:c.6725G>A	NP_001167551.1:p.Arg2242Gln
NM_023035.2:c.6734G>A	NP_075461.2:p.Arg2245Gln
NM_023035.3:c.6734G>A	NP_075461.2:p.Arg2245Gln
ENST00000360228.9:c.6716G>A	ENSP00000353362.5:p.Arg2239Gln
ENST00000573710.6:c.6719G>A	ENSP00000460092.2:p.Arg2240Gln
ENST00000573710.7:c.6722G>A	ENSP00000460092.3:p.Arg2241Gln
ENST00000585802.5:c.2738G>A	ENSP00000465598.1:p.Arg913Gln
ENST00000585802.6:c.1841G>A	ENSP00000465598.2:p.Arg614Gln
ENST00000587525.5:c.2141G>A	ENSP00000467729.1:p.Arg714Gln
ENST00000614285.4:c.6734G>A	ENSP00000479983.1:p.Arg2245Gln
ENST00000635727.1:c.6719G>A	ENSP00000490001.1:p.Arg2240Gln
ENST00000635895.1:c.6719G>A	ENSP00000490323.1:p.Arg2240Gln
ENST00000636012.1:c.6683G>A	ENSP00000490223.1:p.Arg2228Gln
ENST00000636389.1:c.6719G>A	ENSP00000489992.1:p.Arg2240Gln
ENST00000636473.1:c.1586G>A	ENSP00000490173.1:p.Arg529Gln
ENST00000636549.1:c.6725G>A	ENSP00000490578.1:p.Arg2242Gln
ENST00000637276.1:c.6683G>A	ENSP00000489777.1:p.Arg2228Gln
ENST00000637432.1:c.6734G>A	ENSP00000490617.1:p.Arg2245Gln
ENST00000637736.1:c.6578G>A	ENSP00000489861.1:p.Arg2193Gln
ENST00000637769.1:c.6719G>A	ENSP00000489778.1:p.Arg2240Gln
ENST00000637927.1:c.6722G>A	ENSP00000489715.1:p.Arg2241Gln
ENST00000638009.2:c.6719G>A	ENSP00000489913.1:p.Arg2240Gln
ENST00000638029.1:c.6734G>A	ENSP00000489829.1:p.Arg2245Gln
ENST00000664864.1:c.6920G>A	ENSP00000499449.1:p.Arg2307Gln