Canonical Allele Identifier: CA404335836

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235227A>C , CM000681.2:g.13235227A>C	GRCh38
NC_000019.9:g.13346041A>C , CM000681.1:g.13346041A>C	GRCh37
NC_000019.8:g.13207041A>C	NCBI36
NG_011569.1:g.276234T>G , LRG_7:g.276234T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5115T>G MANE Select	NP_001120694.1:p.Tyr1705Ter
ENST00000360228.11:c.5115T>G MANE Select	ENSP00000353362.5:p.Tyr1705Ter
NM_000068.3:c.5133T>G	NP_000059.3:p.Tyr1711Ter
NM_000068.4:c.5133T>G	NP_000059.3:p.Tyr1711Ter
NM_001127221.1:c.5118T>G , LRG_7t1:c.5118T>G	NP_001120693.1:p.Tyr1706Ter
NM_001127221.2:c.5118T>G	NP_001120693.1:p.Tyr1706Ter
NM_001127222.1:c.5115T>G	NP_001120694.1:p.Tyr1705Ter
NM_001174080.1:c.5124T>G	NP_001167551.1:p.Tyr1708Ter
NM_001174080.2:c.5124T>G	NP_001167551.1:p.Tyr1708Ter
NM_023035.2:c.5133T>G	NP_075461.2:p.Tyr1711Ter
NM_023035.3:c.5133T>G	NP_075461.2:p.Tyr1711Ter
ENST00000360228.9:c.5115T>G	ENSP00000353362.5:p.Tyr1705Ter
ENST00000573710.6:c.5118T>G	ENSP00000460092.2:p.Tyr1706Ter
ENST00000573710.7:c.5121T>G	ENSP00000460092.3:p.Tyr1707Ter
ENST00000573891.5:c.534T>G
ENST00000573891.6:c.534T>G
ENST00000574822.5:n.339T>G
ENST00000574822.6:n.339T>G
ENST00000585802.5:c.1173T>G	ENSP00000465598.1:p.Tyr391Ter
ENST00000585802.6:c.276T>G	ENSP00000465598.2:p.Tyr92Ter
ENST00000587525.5:c.576T>G	ENSP00000467729.1:p.Tyr192Ter
ENST00000593267.1:n.320T>G
ENST00000593267.2:n.320T>G
ENST00000614285.4:c.5133T>G	ENSP00000479983.1:p.Tyr1711Ter
ENST00000635727.1:c.5118T>G	ENSP00000490001.1:p.Tyr1706Ter
ENST00000635742.1:n.1104T>G
ENST00000635895.1:c.5118T>G	ENSP00000490323.1:p.Tyr1706Ter
ENST00000636012.1:c.5118T>G	ENSP00000490223.1:p.Tyr1706Ter
ENST00000636058.1:c.430T>G
ENST00000636389.1:c.5118T>G	ENSP00000489992.1:p.Tyr1706Ter
ENST00000636473.1:c.229-191T>G	ENSP00000490173.1:n.229-191T>G
ENST00000636549.1:c.5124T>G	ENSP00000490578.1:p.Tyr1708Ter
ENST00000637276.1:c.5118T>G	ENSP00000489777.1:p.Tyr1706Ter
ENST00000637297.1:c.411T>G	ENSP00000489692.1:p.Tyr137Ter
ENST00000637432.1:c.5133T>G	ENSP00000490617.1:p.Tyr1711Ter
ENST00000637736.1:c.4977T>G	ENSP00000489861.1:p.Tyr1659Ter
ENST00000637769.1:c.5118T>G	ENSP00000489778.1:p.Tyr1706Ter
ENST00000637777.1:c.328-191T>G
ENST00000637809.1:n.508T>G
ENST00000637819.1:c.519T>G	ENSP00000490686.1:p.Tyr173Ter
ENST00000637832.1:n.109T>G
ENST00000637927.1:c.5121T>G	ENSP00000489715.1:p.Tyr1707Ter
ENST00000638009.2:c.5118T>G	ENSP00000489913.1:p.Tyr1706Ter
ENST00000638029.1:c.5133T>G	ENSP00000489829.1:p.Tyr1711Ter
ENST00000664864.1:c.5319T>G	ENSP00000499449.1:p.Tyr1773Ter