Canonical Allele Identifier: CA404335815

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13346031C>G (hg19) ; chr19:g.13235217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235217C>G , CM000681.2:g.13235217C>G	GRCh38
NC_000019.9:g.13346031C>G , CM000681.1:g.13346031C>G	GRCh37
NC_000019.8:g.13207031C>G	NCBI36
NG_011569.1:g.276244G>C , LRG_7:g.276244G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5125G>C MANE Select	ENSP00000353362.5:p.Gly1709Arg
ENST00000573710.7:c.5131G>C	ENSP00000460092.3:p.Gly1711Arg
ENST00000573891.6:c.544G>C
ENST00000574822.6:n.349G>C
ENST00000585802.6:c.286G>C	ENSP00000465598.2:p.Gly96Arg
ENST00000593267.2:n.330G>C
ENST00000635727.1:c.5128G>C	ENSP00000490001.1:p.Gly1710Arg
ENST00000635742.1:n.1114G>C
ENST00000635895.1:c.5128G>C	ENSP00000490323.1:p.Gly1710Arg
ENST00000636012.1:c.5128G>C	ENSP00000490223.1:p.Gly1710Arg
ENST00000636058.1:c.440G>C
ENST00000636389.1:c.5128G>C	ENSP00000489992.1:p.Gly1710Arg
ENST00000636473.1:c.229-181G>C	ENSP00000490173.1:n.229-181G>C
ENST00000636549.1:c.5134G>C	ENSP00000490578.1:p.Gly1712Arg
ENST00000637276.1:c.5128G>C	ENSP00000489777.1:p.Gly1710Arg
ENST00000637297.1:c.421G>C	ENSP00000489692.1:p.Gly141Arg
ENST00000637432.1:c.5143G>C	ENSP00000490617.1:p.Gly1715Arg
ENST00000637736.1:c.4987G>C	ENSP00000489861.1:p.Gly1663Arg
ENST00000637769.1:c.5128G>C	ENSP00000489778.1:p.Gly1710Arg
ENST00000637777.1:c.328-181G>C
ENST00000637809.1:n.518G>C
ENST00000637819.1:c.529G>C	ENSP00000490686.1:p.Gly177Arg
ENST00000637832.1:n.119G>C
ENST00000637927.1:c.5131G>C	ENSP00000489715.1:p.Gly1711Arg
ENST00000638009.2:c.5128G>C	ENSP00000489913.1:p.Gly1710Arg
ENST00000638029.1:c.5143G>C	ENSP00000489829.1:p.Gly1715Arg
ENST00000664864.1:c.5329G>C	ENSP00000499449.1:p.Gly1777Arg
ENST00000360228.9:c.5125G>C	ENSP00000353362.5:p.Gly1709Arg
ENST00000573710.6:c.5128G>C	ENSP00000460092.2:p.Gly1710Arg
ENST00000573891.5:c.544G>C
ENST00000574822.5:n.349G>C
ENST00000585802.5:c.1183G>C	ENSP00000465598.1:p.Gly395Arg
ENST00000587525.5:c.586G>C	ENSP00000467729.1:p.Gly196Arg
ENST00000593267.1:n.330G>C
ENST00000614285.4:c.5143G>C	ENSP00000479983.1:p.Gly1715Arg
NM_000068.3:c.5143G>C	NP_000059.3:p.Gly1715Arg
NM_001127221.1:c.5128G>C , LRG_7t1:c.5128G>C	NP_001120693.1:p.Gly1710Arg
NM_001127222.1:c.5125G>C	NP_001120694.1:p.Gly1709Arg
NM_001174080.1:c.5134G>C	NP_001167551.1:p.Gly1712Arg
NM_023035.2:c.5143G>C	NP_075461.2:p.Gly1715Arg
NM_000068.4:c.5143G>C	NP_000059.3:p.Gly1715Arg
NM_001127222.2:c.5125G>C MANE Select	NP_001120694.1:p.Gly1709Arg
NM_001174080.2:c.5134G>C	NP_001167551.1:p.Gly1712Arg
NM_023035.3:c.5143G>C	NP_075461.2:p.Gly1715Arg
NM_001127221.2:c.5128G>C	NP_001120693.1:p.Gly1710Arg