Canonical Allele Identifier: CA404328026

Gene: CACNA1A

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13207683C>T , CM000681.2:g.13207683C>T	GRCh38
NC_000019.9:g.13318497C>T , CM000681.1:g.13318497C>T	GRCh37
NC_000019.8:g.13179497C>T	NCBI36
NG_011569.1:g.303778G>A , LRG_7:g.303778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.7151G>A MANE Select	ENSP00000353362.5:p.Arg2384Gln
ENST00000573710.7:c.7157G>A	ENSP00000460092.3:p.Arg2386Gln
ENST00000585802.6:c.2276G>A	ENSP00000465598.2:p.Arg759Gln
ENST00000635727.1:c.7154G>A	ENSP00000490001.1:p.Arg2385Gln
ENST00000635895.1:c.*363G>A	ENSP00000490323.1:n.*363G>A
ENST00000636012.1:c.7118G>A	ENSP00000490223.1:p.Arg2373Gln
ENST00000636389.1:c.*237G>A	ENSP00000489992.1:n.*237G>A
ENST00000637276.1:c.7113G>A	ENSP00000489777.1:n.7113G>A
ENST00000637432.1:c.*363G>A	ENSP00000490617.1:n.*363G>A
ENST00000637736.1:c.7013G>A	ENSP00000489861.1:p.Arg2338Gln
ENST00000637769.1:c.7154G>A	ENSP00000489778.1:p.Arg2385Gln
ENST00000638009.2:c.*363G>A	ENSP00000489913.1:n.*363G>A
ENST00000638029.1:c.7169G>A	ENSP00000489829.1:p.Arg2390Gln
ENST00000360228.9:c.7151G>A	ENSP00000353362.5:p.Arg2384Gln
ENST00000573710.6:c.*363G>A	ENSP00000460092.2:n.*363G>A
ENST00000585802.5:c.3173G>A	ENSP00000465598.1:p.Arg1058Gln
ENST00000587525.5:c.2576G>A	ENSP00000467729.1:p.Arg859Gln
ENST00000614285.4:c.7169G>A	ENSP00000479983.1:p.Arg2390Gln
NM_000068.3:c.*363G>A	NP_000059.3:n.*363G>A
NM_001127221.1:c.*363G>A , LRG_7t1:c.*363G>A	NP_001120693.1:n.*363G>A
NM_001127222.1:c.7151G>A	NP_001120694.1:p.Arg2384Gln
NM_001174080.1:c.*363G>A	NP_001167551.1:n.*363G>A
NM_023035.2:c.7169G>A	NP_075461.2:p.Arg2390Gln
NM_000068.4:c.*363G>A	NP_000059.3:n.*363G>A
NM_001127222.2:c.7151G>A MANE Select	NP_001120694.1:p.Arg2384Gln
NM_001174080.2:c.*363G>A	NP_001167551.1:n.*363G>A
NM_023035.3:c.7169G>A	NP_075461.2:p.Arg2390Gln
NM_001127221.2:c.*363G>A	NP_001120693.1:n.*363G>A