Canonical Allele Identifier: CA404338409

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13255136T>C , CM000681.2:g.13255136T>C	GRCh38
NC_000019.9:g.13365950T>C , CM000681.1:g.13365950T>C	GRCh37
NC_000019.8:g.13226950T>C	NCBI36
NG_011569.1:g.256325A>G , LRG_7:g.256325A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.4714A>G MANE Select	NP_001120694.1:p.Met1572Val
ENST00000360228.11:c.4714A>G MANE Select	ENSP00000353362.5:p.Met1572Val
NM_000068.3:c.4726A>G	NP_000059.3:p.Met1576Val
NM_000068.4:c.4726A>G	NP_000059.3:p.Met1576Val
NM_001127221.1:c.4717A>G , LRG_7t1:c.4717A>G	NP_001120693.1:p.Met1573Val
NM_001127221.2:c.4717A>G	NP_001120693.1:p.Met1573Val
NM_001127222.1:c.4714A>G	NP_001120694.1:p.Met1572Val
NM_001174080.1:c.4717A>G	NP_001167551.1:p.Met1573Val
NM_001174080.2:c.4717A>G	NP_001167551.1:p.Met1573Val
NM_023035.2:c.4726A>G	NP_075461.2:p.Met1576Val
NM_023035.3:c.4726A>G	NP_075461.2:p.Met1576Val
ENST00000360228.9:c.4714A>G	ENSP00000353362.5:p.Met1572Val
ENST00000573710.6:c.4717A>G	ENSP00000460092.2:p.Met1573Val
ENST00000573710.7:c.4720A>G	ENSP00000460092.3:p.Met1574Val
ENST00000585802.5:c.772A>G	ENSP00000465598.1:p.Met258Val
ENST00000587525.5:c.175A>G	ENSP00000467729.1:p.Met59Val
ENST00000614285.4:c.4726A>G	ENSP00000479983.1:p.Met1576Val
ENST00000635727.1:c.4717A>G	ENSP00000490001.1:p.Met1573Val
ENST00000635742.1:n.703A>G
ENST00000635895.1:c.4717A>G	ENSP00000490323.1:p.Met1573Val
ENST00000635917.1:n.1206A>G
ENST00000636012.1:c.4717A>G	ENSP00000490223.1:p.Met1573Val
ENST00000636389.1:c.4717A>G	ENSP00000489992.1:p.Met1573Val
ENST00000636549.1:c.4717A>G	ENSP00000490578.1:p.Met1573Val
ENST00000636816.1:n.1402A>G
ENST00000637004.1:n.1180A>G
ENST00000637276.1:c.4717A>G	ENSP00000489777.1:p.Met1573Val
ENST00000637297.1:c.246+2214A>G	ENSP00000489692.1:n.246+2214A>G
ENST00000637432.1:c.4726A>G	ENSP00000490617.1:p.Met1576Val
ENST00000637692.1:n.1036A>G
ENST00000637736.1:c.4576A>G	ENSP00000489861.1:p.Met1526Val
ENST00000637769.1:c.4717A>G	ENSP00000489778.1:p.Met1573Val
ENST00000637819.1:c.112A>G	ENSP00000490686.1:p.Met38Val
ENST00000637927.1:c.4720A>G	ENSP00000489715.1:p.Met1574Val
ENST00000638009.2:c.4717A>G	ENSP00000489913.1:p.Met1573Val
ENST00000638029.1:c.4726A>G	ENSP00000489829.1:p.Met1576Val
ENST00000664864.1:c.4912A>G	ENSP00000499449.1:p.Met1638Val