Canonical Allele Identifier: CA404339415

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13259661G>A , CM000681.2:g.13259661G>A	GRCh38
NC_000019.9:g.13370475G>A , CM000681.1:g.13370475G>A	GRCh37
NC_000019.8:g.13231475G>A	NCBI36
NG_011569.1:g.251800C>T , LRG_7:g.251800C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.4291C>T MANE Select	NP_001120694.1:p.Arg1431Ter
ENST00000360228.11:c.4291C>T MANE Select	ENSP00000353362.5:p.Arg1431Ter
NM_000068.3:c.4303C>T	NP_000059.3:p.Arg1435Ter
NM_000068.4:c.4303C>T	NP_000059.3:p.Arg1435Ter
NM_001127221.1:c.4294C>T , LRG_7t1:c.4294C>T	NP_001120693.1:p.Arg1432Ter
NM_001127221.2:c.4294C>T	NP_001120693.1:p.Arg1432Ter
NM_001127222.1:c.4291C>T	NP_001120694.1:p.Arg1431Ter
NM_001174080.1:c.4294C>T	NP_001167551.1:p.Arg1432Ter
NM_001174080.2:c.4294C>T	NP_001167551.1:p.Arg1432Ter
NM_023035.2:c.4303C>T	NP_075461.2:p.Arg1435Ter
NM_023035.3:c.4303C>T	NP_075461.2:p.Arg1435Ter
ENST00000360228.9:c.4291C>T	ENSP00000353362.5:p.Arg1431Ter
ENST00000573710.6:c.4294C>T	ENSP00000460092.2:p.Arg1432Ter
ENST00000573710.7:c.4297C>T	ENSP00000460092.3:p.Arg1433Ter
ENST00000585802.5:c.349C>T	ENSP00000465598.1:p.Arg117Ter
ENST00000590205.2:n.3045C>T
ENST00000614285.4:c.4303C>T	ENSP00000479983.1:p.Arg1435Ter
ENST00000635727.1:c.4294C>T	ENSP00000490001.1:p.Arg1432Ter
ENST00000635742.1:n.280C>T
ENST00000635895.1:c.4294C>T	ENSP00000490323.1:p.Arg1432Ter
ENST00000635917.1:n.783C>T
ENST00000636012.1:c.4294C>T	ENSP00000490223.1:p.Arg1432Ter
ENST00000636389.1:c.4294C>T	ENSP00000489992.1:p.Arg1432Ter
ENST00000636549.1:c.4294C>T	ENSP00000490578.1:p.Arg1432Ter
ENST00000636816.1:n.979C>T
ENST00000636984.1:n.574C>T
ENST00000637004.1:n.757C>T
ENST00000637276.1:c.4294C>T	ENSP00000489777.1:p.Arg1432Ter
ENST00000637432.1:c.4303C>T	ENSP00000490617.1:p.Arg1435Ter
ENST00000637692.1:n.613C>T
ENST00000637736.1:c.4153C>T	ENSP00000489861.1:p.Arg1385Ter
ENST00000637769.1:c.4294C>T	ENSP00000489778.1:p.Arg1432Ter
ENST00000637927.1:c.4297C>T	ENSP00000489715.1:p.Arg1433Ter
ENST00000638009.2:c.4294C>T	ENSP00000489913.1:p.Arg1432Ter
ENST00000638029.1:c.4303C>T	ENSP00000489829.1:p.Arg1435Ter
ENST00000664864.1:c.4489C>T	ENSP00000499449.1:p.Arg1497Ter