Canonical Allele Identifier: CA404335516

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13234922G>A , CM000681.2:g.13234922G>A	GRCh38
NC_000019.9:g.13345736G>A , CM000681.1:g.13345736G>A	GRCh37
NC_000019.8:g.13206736G>A	NCBI36
NG_011569.1:g.276539C>T , LRG_7:g.276539C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5248C>T MANE Select	NP_001120694.1:p.Arg1750Trp
ENST00000360228.11:c.5248C>T MANE Select	ENSP00000353362.5:p.Arg1750Trp
NM_000068.3:c.5266C>T	NP_000059.3:p.Arg1756Trp
NM_000068.4:c.5266C>T	NP_000059.3:p.Arg1756Trp
NM_001127221.1:c.5251C>T , LRG_7t1:c.5251C>T	NP_001120693.1:p.Arg1751Trp
NM_001127221.2:c.5251C>T	NP_001120693.1:p.Arg1751Trp
NM_001127222.1:c.5248C>T	NP_001120694.1:p.Arg1750Trp
NM_001174080.1:c.5257C>T	NP_001167551.1:p.Arg1753Trp
NM_001174080.2:c.5257C>T	NP_001167551.1:p.Arg1753Trp
NM_023035.2:c.5266C>T	NP_075461.2:p.Arg1756Trp
NM_023035.3:c.5266C>T	NP_075461.2:p.Arg1756Trp
ENST00000360228.9:c.5248C>T	ENSP00000353362.5:p.Arg1750Trp
ENST00000573710.6:c.5251C>T	ENSP00000460092.2:p.Arg1751Trp
ENST00000573710.7:c.5254C>T	ENSP00000460092.3:p.Arg1752Trp
ENST00000573891.5:c.667C>T
ENST00000573891.6:c.667C>T
ENST00000574822.5:n.472C>T
ENST00000574822.6:n.472C>T
ENST00000585802.5:c.1306C>T	ENSP00000465598.1:p.Arg436Trp
ENST00000585802.6:c.409C>T	ENSP00000465598.2:p.Arg137Trp
ENST00000587525.5:c.709C>T	ENSP00000467729.1:p.Arg237Trp
ENST00000593267.1:n.453C>T
ENST00000593267.2:n.453C>T
ENST00000614285.4:c.5266C>T	ENSP00000479983.1:p.Arg1756Trp
ENST00000635727.1:c.5251C>T	ENSP00000490001.1:p.Arg1751Trp
ENST00000635742.1:n.1237C>T
ENST00000635895.1:c.5251C>T	ENSP00000490323.1:p.Arg1751Trp
ENST00000636012.1:c.5251C>T	ENSP00000490223.1:p.Arg1751Trp
ENST00000636058.1:c.563C>T
ENST00000636389.1:c.5251C>T	ENSP00000489992.1:p.Arg1751Trp
ENST00000636473.1:c.343C>T	ENSP00000490173.1:p.Arg115Trp
ENST00000636549.1:c.5257C>T	ENSP00000490578.1:p.Arg1753Trp
ENST00000637276.1:c.5251C>T	ENSP00000489777.1:p.Arg1751Trp
ENST00000637297.1:c.544C>T	ENSP00000489692.1:p.Arg182Trp
ENST00000637432.1:c.5266C>T	ENSP00000490617.1:p.Arg1756Trp
ENST00000637736.1:c.5110C>T	ENSP00000489861.1:p.Arg1704Trp
ENST00000637769.1:c.5251C>T	ENSP00000489778.1:p.Arg1751Trp
ENST00000637777.1:c.442C>T
ENST00000637809.1:n.641C>T
ENST00000637819.1:c.652C>T	ENSP00000490686.1:p.Arg218Trp
ENST00000637832.1:n.242C>T
ENST00000637927.1:c.5254C>T	ENSP00000489715.1:p.Arg1752Trp
ENST00000638009.2:c.5251C>T	ENSP00000489913.1:p.Arg1751Trp
ENST00000638029.1:c.5266C>T	ENSP00000489829.1:p.Arg1756Trp
ENST00000664864.1:c.5452C>T	ENSP00000499449.1:p.Arg1818Trp