Canonical Allele Identifier: CA404335590

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13234955G>A , CM000681.2:g.13234955G>A	GRCh38
NC_000019.9:g.13345769G>A , CM000681.1:g.13345769G>A	GRCh37
NC_000019.8:g.13206769G>A	NCBI36
NG_011569.1:g.276506C>T , LRG_7:g.276506C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5215C>T MANE Select	NP_001120694.1:p.Arg1739Trp
ENST00000360228.11:c.5215C>T MANE Select	ENSP00000353362.5:p.Arg1739Trp
NM_000068.3:c.5233C>T	NP_000059.3:p.Arg1745Trp
NM_000068.4:c.5233C>T	NP_000059.3:p.Arg1745Trp
NM_001127221.1:c.5218C>T , LRG_7t1:c.5218C>T	NP_001120693.1:p.Arg1740Trp
NM_001127221.2:c.5218C>T	NP_001120693.1:p.Arg1740Trp
NM_001127222.1:c.5215C>T	NP_001120694.1:p.Arg1739Trp
NM_001174080.1:c.5224C>T	NP_001167551.1:p.Arg1742Trp
NM_001174080.2:c.5224C>T	NP_001167551.1:p.Arg1742Trp
NM_023035.2:c.5233C>T	NP_075461.2:p.Arg1745Trp
NM_023035.3:c.5233C>T	NP_075461.2:p.Arg1745Trp
ENST00000360228.9:c.5215C>T	ENSP00000353362.5:p.Arg1739Trp
ENST00000573710.6:c.5218C>T	ENSP00000460092.2:p.Arg1740Trp
ENST00000573710.7:c.5221C>T	ENSP00000460092.3:p.Arg1741Trp
ENST00000573891.5:c.634C>T
ENST00000573891.6:c.634C>T
ENST00000574822.5:n.439C>T
ENST00000574822.6:n.439C>T
ENST00000585802.5:c.1273C>T	ENSP00000465598.1:p.Arg425Trp
ENST00000585802.6:c.376C>T	ENSP00000465598.2:p.Arg126Trp
ENST00000587525.5:c.676C>T	ENSP00000467729.1:p.Arg226Trp
ENST00000593267.1:n.420C>T
ENST00000593267.2:n.420C>T
ENST00000614285.4:c.5233C>T	ENSP00000479983.1:p.Arg1745Trp
ENST00000635727.1:c.5218C>T	ENSP00000490001.1:p.Arg1740Trp
ENST00000635742.1:n.1204C>T
ENST00000635895.1:c.5218C>T	ENSP00000490323.1:p.Arg1740Trp
ENST00000636012.1:c.5218C>T	ENSP00000490223.1:p.Arg1740Trp
ENST00000636058.1:c.530C>T
ENST00000636389.1:c.5218C>T	ENSP00000489992.1:p.Arg1740Trp
ENST00000636473.1:c.310C>T	ENSP00000490173.1:p.Arg104Trp
ENST00000636549.1:c.5224C>T	ENSP00000490578.1:p.Arg1742Trp
ENST00000637276.1:c.5218C>T	ENSP00000489777.1:p.Arg1740Trp
ENST00000637297.1:c.511C>T	ENSP00000489692.1:p.Arg171Trp
ENST00000637432.1:c.5233C>T	ENSP00000490617.1:p.Arg1745Trp
ENST00000637736.1:c.5077C>T	ENSP00000489861.1:p.Arg1693Trp
ENST00000637769.1:c.5218C>T	ENSP00000489778.1:p.Arg1740Trp
ENST00000637777.1:c.409C>T
ENST00000637809.1:n.608C>T
ENST00000637819.1:c.619C>T	ENSP00000490686.1:p.Arg207Trp
ENST00000637832.1:n.209C>T
ENST00000637927.1:c.5221C>T	ENSP00000489715.1:p.Arg1741Trp
ENST00000638009.2:c.5218C>T	ENSP00000489913.1:p.Arg1740Trp
ENST00000638029.1:c.5233C>T	ENSP00000489829.1:p.Arg1745Trp
ENST00000664864.1:c.5419C>T	ENSP00000499449.1:p.Arg1807Trp