Canonical Allele Identifier: CA404336751

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13346475C>A (hg19) ; chr19:g.13235661C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235661C>A , CM000681.2:g.13235661C>A	GRCh38
NC_000019.9:g.13346475C>A , CM000681.1:g.13346475C>A	GRCh37
NC_000019.8:g.13207475C>A	NCBI36
NG_011569.1:g.275800G>T , LRG_7:g.275800G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5020G>T MANE Select	ENSP00000353362.5:p.Gly1674Cys
ENST00000573710.7:c.5026G>T	ENSP00000460092.3:p.Gly1676Cys
ENST00000573891.6:c.439G>T
ENST00000574822.6:n.244G>T
ENST00000585802.6:c.181G>T	ENSP00000465598.2:p.Gly61Cys
ENST00000593267.2:n.225G>T
ENST00000635727.1:c.5023G>T	ENSP00000490001.1:p.Gly1675Cys
ENST00000635742.1:n.1009G>T
ENST00000635895.1:c.5023G>T	ENSP00000490323.1:p.Gly1675Cys
ENST00000636012.1:c.5023G>T	ENSP00000490223.1:p.Gly1675Cys
ENST00000636058.1:c.335G>T
ENST00000636389.1:c.5023G>T	ENSP00000489992.1:p.Gly1675Cys
ENST00000636473.1:c.181G>T	ENSP00000490173.1:p.Gly61Cys
ENST00000636549.1:c.5029G>T	ENSP00000490578.1:p.Gly1677Cys
ENST00000637276.1:c.5023G>T	ENSP00000489777.1:p.Gly1675Cys
ENST00000637297.1:c.316G>T	ENSP00000489692.1:p.Gly106Cys
ENST00000637432.1:c.5038G>T	ENSP00000490617.1:p.Gly1680Cys
ENST00000637736.1:c.4882G>T	ENSP00000489861.1:p.Gly1628Cys
ENST00000637769.1:c.5023G>T	ENSP00000489778.1:p.Gly1675Cys
ENST00000637777.1:c.280G>T
ENST00000637809.1:n.413G>T
ENST00000637819.1:c.424G>T	ENSP00000490686.1:p.Gly142Cys
ENST00000637832.1:n.14G>T
ENST00000637927.1:c.5026G>T	ENSP00000489715.1:p.Gly1676Cys
ENST00000638009.2:c.5023G>T	ENSP00000489913.1:p.Gly1675Cys
ENST00000638029.1:c.5038G>T	ENSP00000489829.1:p.Gly1680Cys
ENST00000664864.1:c.5224G>T	ENSP00000499449.1:p.Gly1742Cys
ENST00000360228.9:c.5020G>T	ENSP00000353362.5:p.Gly1674Cys
ENST00000573710.6:c.5023G>T	ENSP00000460092.2:p.Gly1675Cys
ENST00000573891.5:c.439G>T
ENST00000574822.5:n.244G>T
ENST00000585802.5:c.1078G>T	ENSP00000465598.1:p.Gly360Cys
ENST00000587525.5:c.481G>T	ENSP00000467729.1:p.Gly161Cys
ENST00000593267.1:n.225G>T
ENST00000614285.4:c.5038G>T	ENSP00000479983.1:p.Gly1680Cys
NM_000068.3:c.5038G>T	NP_000059.3:p.Gly1680Cys
NM_001127221.1:c.5023G>T , LRG_7t1:c.5023G>T	NP_001120693.1:p.Gly1675Cys
NM_001127222.1:c.5020G>T	NP_001120694.1:p.Gly1674Cys
NM_001174080.1:c.5029G>T	NP_001167551.1:p.Gly1677Cys
NM_023035.2:c.5038G>T	NP_075461.2:p.Gly1680Cys
NM_000068.4:c.5038G>T	NP_000059.3:p.Gly1680Cys
NM_001127222.2:c.5020G>T MANE Select	NP_001120694.1:p.Gly1674Cys
NM_001174080.2:c.5029G>T	NP_001167551.1:p.Gly1677Cys
NM_023035.3:c.5038G>T	NP_075461.2:p.Gly1680Cys
NM_001127221.2:c.5023G>T	NP_001120693.1:p.Gly1675Cys