Canonical Allele Identifier: CA404336963

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13346509G>C (hg19) ; chr19:g.13235695G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235695G>C , CM000681.2:g.13235695G>C	GRCh38
NC_000019.9:g.13346509G>C , CM000681.1:g.13346509G>C	GRCh37
NC_000019.8:g.13207509G>C	NCBI36
NG_011569.1:g.275766C>G , LRG_7:g.275766C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4986C>G MANE Select	ENSP00000353362.5:p.Phe1662Leu
ENST00000573710.7:c.4992C>G	ENSP00000460092.3:p.Phe1664Leu
ENST00000573891.6:c.405C>G
ENST00000574822.6:n.210C>G
ENST00000585802.6:c.147C>G	ENSP00000465598.2:p.Phe49Leu
ENST00000593267.2:n.191C>G
ENST00000635727.1:c.4989C>G	ENSP00000490001.1:p.Phe1663Leu
ENST00000635742.1:n.975C>G
ENST00000635895.1:c.4989C>G	ENSP00000490323.1:p.Phe1663Leu
ENST00000636012.1:c.4989C>G	ENSP00000490223.1:p.Phe1663Leu
ENST00000636058.1:c.301C>G
ENST00000636389.1:c.4989C>G	ENSP00000489992.1:p.Phe1663Leu
ENST00000636473.1:c.147C>G	ENSP00000490173.1:p.Phe49Leu
ENST00000636549.1:c.4995C>G	ENSP00000490578.1:p.Phe1665Leu
ENST00000637276.1:c.4989C>G	ENSP00000489777.1:p.Phe1663Leu
ENST00000637297.1:c.282C>G	ENSP00000489692.1:p.Phe94Leu
ENST00000637432.1:c.5004C>G	ENSP00000490617.1:p.Phe1668Leu
ENST00000637736.1:c.4848C>G	ENSP00000489861.1:p.Phe1616Leu
ENST00000637769.1:c.4989C>G	ENSP00000489778.1:p.Phe1663Leu
ENST00000637777.1:c.246C>G
ENST00000637809.1:n.379C>G
ENST00000637819.1:c.390C>G	ENSP00000490686.1:p.Phe130Leu
ENST00000637927.1:c.4992C>G	ENSP00000489715.1:p.Phe1664Leu
ENST00000638009.2:c.4989C>G	ENSP00000489913.1:p.Phe1663Leu
ENST00000638029.1:c.5004C>G	ENSP00000489829.1:p.Phe1668Leu
ENST00000664864.1:c.5190C>G	ENSP00000499449.1:p.Phe1730Leu
ENST00000360228.9:c.4986C>G	ENSP00000353362.5:p.Phe1662Leu
ENST00000573710.6:c.4989C>G	ENSP00000460092.2:p.Phe1663Leu
ENST00000573891.5:c.405C>G
ENST00000574822.5:n.210C>G
ENST00000585802.5:c.1044C>G	ENSP00000465598.1:p.Phe348Leu
ENST00000587525.5:c.447C>G	ENSP00000467729.1:p.Phe149Leu
ENST00000593267.1:n.191C>G
ENST00000614285.4:c.5004C>G	ENSP00000479983.1:p.Phe1668Leu
NM_000068.3:c.5004C>G	NP_000059.3:p.Phe1668Leu
NM_001127221.1:c.4989C>G , LRG_7t1:c.4989C>G	NP_001120693.1:p.Phe1663Leu
NM_001127222.1:c.4986C>G	NP_001120694.1:p.Phe1662Leu
NM_001174080.1:c.4995C>G	NP_001167551.1:p.Phe1665Leu
NM_023035.2:c.5004C>G	NP_075461.2:p.Phe1668Leu
NM_000068.4:c.5004C>G	NP_000059.3:p.Phe1668Leu
NM_001127222.2:c.4986C>G MANE Select	NP_001120694.1:p.Phe1662Leu
NM_001174080.2:c.4995C>G	NP_001167551.1:p.Phe1665Leu
NM_023035.3:c.5004C>G	NP_075461.2:p.Phe1668Leu
NM_001127221.2:c.4989C>G	NP_001120693.1:p.Phe1663Leu