Canonical Allele Identifier: CA505659351

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13208975G>T , CM000681.2:g.13208975G>T	GRCh38
NC_000019.9:g.13319789G>T , CM000681.1:g.13319789G>T	GRCh37
NC_000019.8:g.13180789G>T	NCBI36
NG_011569.1:g.302486C>A , LRG_7:g.302486C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.6561C>A MANE Select	NP_001120694.1:p.Ser2187=
ENST00000360228.11:c.6561C>A MANE Select	ENSP00000353362.5:p.Ser2187=
NM_000068.3:c.6579C>A	NP_000059.3:p.Ser2193=
NM_000068.4:c.6579C>A	NP_000059.3:p.Ser2193=
NM_001127221.1:c.6564C>A , LRG_7t1:c.6564C>A	NP_001120693.1:p.Ser2188=
NM_001127221.2:c.6564C>A	NP_001120693.1:p.Ser2188=
NM_001127222.1:c.6561C>A	NP_001120694.1:p.Ser2187=
NM_001174080.1:c.6570C>A	NP_001167551.1:p.Ser2190=
NM_001174080.2:c.6570C>A	NP_001167551.1:p.Ser2190=
NM_023035.2:c.6579C>A	NP_075461.2:p.Ser2193=
NM_023035.3:c.6579C>A	NP_075461.2:p.Ser2193=
ENST00000360228.9:c.6561C>A	ENSP00000353362.5:p.Ser2187=
ENST00000573710.6:c.6564C>A	ENSP00000460092.2:p.Ser2188=
ENST00000573710.7:c.6567C>A	ENSP00000460092.3:p.Ser2189=
ENST00000585802.5:c.2583C>A	ENSP00000465598.1:p.Ser861=
ENST00000585802.6:c.1686C>A	ENSP00000465598.2:p.Ser562=
ENST00000587525.5:c.1986C>A	ENSP00000467729.1:p.Ser662=
ENST00000614285.4:c.6579C>A	ENSP00000479983.1:p.Ser2193=
ENST00000635727.1:c.6564C>A	ENSP00000490001.1:p.Ser2188=
ENST00000635895.1:c.6564C>A	ENSP00000490323.1:p.Ser2188=
ENST00000636012.1:c.6528C>A	ENSP00000490223.1:p.Ser2176=
ENST00000636389.1:c.6564C>A	ENSP00000489992.1:p.Ser2188=
ENST00000636473.1:c.1431C>A	ENSP00000490173.1:p.Ser477=
ENST00000636549.1:c.6570C>A	ENSP00000490578.1:p.Ser2190=
ENST00000636610.1:n.2928C>A
ENST00000637276.1:c.6528C>A	ENSP00000489777.1:p.Ser2176=
ENST00000637432.1:c.6579C>A	ENSP00000490617.1:p.Ser2193=
ENST00000637736.1:c.6423C>A	ENSP00000489861.1:p.Ser2141=
ENST00000637769.1:c.6564C>A	ENSP00000489778.1:p.Ser2188=
ENST00000637927.1:c.6567C>A	ENSP00000489715.1:p.Ser2189=
ENST00000638009.2:c.6564C>A	ENSP00000489913.1:p.Ser2188=
ENST00000638029.1:c.6579C>A	ENSP00000489829.1:p.Ser2193=
ENST00000664864.1:c.6765C>A	ENSP00000499449.1:p.Ser2255=