Canonical Allele Identifier: CA9239689

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13228749A>G , CM000681.2:g.13228749A>G	GRCh38
NC_000019.9:g.13339563A>G , CM000681.1:g.13339563A>G	GRCh37
NC_000019.8:g.13200563A>G	NCBI36
NG_011569.1:g.282712T>C , LRG_7:g.282712T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5529-1222T>C MANE Select	NP_001120694.1:n.5529-1222T>C
ENST00000360228.11:c.5529-1222T>C MANE Select	ENSP00000353362.5:n.5529-1222T>C
NM_000068.3:c.5547-1222T>C	NP_000059.3:n.5547-1222T>C
NM_000068.4:c.5547-1222T>C	NP_000059.3:n.5547-1222T>C
NM_001127221.1:c.5578T>C , LRG_7t1:c.5578T>C	NP_001120693.1:p.Ser1860Pro
NM_001127221.2:c.5578T>C	NP_001120693.1:p.Ser1860Pro
NM_001127222.1:c.5529-1222T>C	NP_001120694.1:n.5529-1222T>C
NM_001174080.1:c.5538-1222T>C	NP_001167551.1:n.5538-1222T>C
NM_001174080.2:c.5538-1222T>C	NP_001167551.1:n.5538-1222T>C
NM_023035.2:c.5547-1222T>C	NP_075461.2:n.5547-1222T>C
NM_023035.3:c.5547-1222T>C	NP_075461.2:n.5547-1222T>C
ENST00000360228.9:c.5529-1222T>C	ENSP00000353362.5:n.5529-1222T>C
ENST00000573710.6:c.5578T>C	ENSP00000460092.2:p.Ser1860Pro
ENST00000573710.7:c.5581T>C	ENSP00000460092.3:p.Ser1861Pro
ENST00000585802.5:c.1587-1222T>C	ENSP00000465598.1:n.1587-1222T>C
ENST00000585802.6:c.690-1222T>C	ENSP00000465598.2:n.690-1222T>C
ENST00000587525.5:c.1036T>C	ENSP00000467729.1:p.Ser346Pro
ENST00000614285.4:c.5547-1222T>C	ENSP00000479983.1:n.5547-1222T>C
ENST00000635727.1:c.5532-1222T>C	ENSP00000490001.1:n.5532-1222T>C
ENST00000635895.1:c.5532-1222T>C	ENSP00000490323.1:n.5532-1222T>C
ENST00000636012.1:c.5532-1222T>C	ENSP00000490223.1:n.5532-1222T>C
ENST00000636389.1:c.5578T>C	ENSP00000489992.1:p.Ser1860Pro
ENST00000636473.1:c.495+2961T>C	ENSP00000490173.1:n.495+2961T>C
ENST00000636549.1:c.5538-1222T>C	ENSP00000490578.1:n.5538-1222T>C
ENST00000636768.1:c.155+1333T>C	ENSP00000490190.1:n.155+1333T>C
ENST00000637276.1:c.5532-1222T>C	ENSP00000489777.1:n.5532-1222T>C
ENST00000637432.1:c.5547-1222T>C	ENSP00000490617.1:n.5547-1222T>C
ENST00000637736.1:c.5437T>C	ENSP00000489861.1:p.Ser1813Pro
ENST00000637769.1:c.5578T>C	ENSP00000489778.1:p.Ser1860Pro
ENST00000637819.1:c.979T>C	ENSP00000490686.1:p.Ser327Pro
ENST00000637832.1:n.569T>C
ENST00000637927.1:c.5581T>C	ENSP00000489715.1:p.Ser1861Pro
ENST00000638009.2:c.5578T>C	ENSP00000489913.1:p.Ser1860Pro
ENST00000638029.1:c.5547-1222T>C	ENSP00000489829.1:n.5547-1222T>C
ENST00000664864.1:c.5733-1222T>C	ENSP00000499449.1:n.5733-1222T>C