Canonical Allele Identifier: CA505658995

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13207949T>G , CM000681.2:g.13207949T>G	GRCh38
NC_000019.9:g.13318763T>G , CM000681.1:g.13318763T>G	GRCh37
NC_000019.8:g.13179763T>G	NCBI36
NG_011569.1:g.303512A>C , LRG_7:g.303512A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.6885A>C MANE Select	NP_001120694.1:p.Pro2295=
ENST00000360228.11:c.6885A>C MANE Select	ENSP00000353362.5:p.Pro2295=
NM_000068.3:c.*97A>C	NP_000059.3:n.*97A>C
NM_000068.4:c.*97A>C	NP_000059.3:n.*97A>C
NM_001127221.1:c.*97A>C , LRG_7t1:c.*97A>C	NP_001120693.1:n.*97A>C
NM_001127221.2:c.*97A>C	NP_001120693.1:n.*97A>C
NM_001127222.1:c.6885A>C	NP_001120694.1:p.Pro2295=
NM_001174080.1:c.*97A>C	NP_001167551.1:n.*97A>C
NM_001174080.2:c.*97A>C	NP_001167551.1:n.*97A>C
NM_023035.2:c.6903A>C	NP_075461.2:p.Pro2301=
NM_023035.3:c.6903A>C	NP_075461.2:p.Pro2301=
ENST00000360228.9:c.6885A>C	ENSP00000353362.5:p.Pro2295=
ENST00000573710.6:c.*97A>C	ENSP00000460092.2:n.*97A>C
ENST00000573710.7:c.6891A>C	ENSP00000460092.3:p.Pro2297=
ENST00000585802.5:c.2907A>C	ENSP00000465598.1:p.Pro969=
ENST00000585802.6:c.2010A>C	ENSP00000465598.2:p.Pro670=
ENST00000587525.5:c.2310A>C	ENSP00000467729.1:p.Pro770=
ENST00000614285.4:c.6903A>C	ENSP00000479983.1:p.Pro2301=
ENST00000635727.1:c.6888A>C	ENSP00000490001.1:p.Pro2296=
ENST00000635895.1:c.*97A>C	ENSP00000490323.1:n.*97A>C
ENST00000636012.1:c.6852A>C	ENSP00000490223.1:p.Pro2284=
ENST00000636389.1:c.6880A>C	ENSP00000489992.1:p.Thr2294Pro
ENST00000637276.1:c.6847A>C	ENSP00000489777.1:n.6847A>C
ENST00000637432.1:c.*97A>C	ENSP00000490617.1:n.*97A>C
ENST00000637736.1:c.6747A>C	ENSP00000489861.1:p.Pro2249=
ENST00000637769.1:c.6888A>C	ENSP00000489778.1:p.Pro2296=
ENST00000638009.2:c.*97A>C	ENSP00000489913.1:n.*97A>C
ENST00000638029.1:c.6903A>C	ENSP00000489829.1:p.Pro2301=