Canonical Allele Identifier: CA404335745

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13345835C>A (hg19) ; chr19:g.13235021C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235021C>A , CM000681.2:g.13235021C>A	GRCh38
NC_000019.9:g.13345835C>A , CM000681.1:g.13345835C>A	GRCh37
NC_000019.8:g.13206835C>A	NCBI36
NG_011569.1:g.276440G>T , LRG_7:g.276440G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5149G>T MANE Select	ENSP00000353362.5:p.Gly1717Cys
ENST00000573710.7:c.5155G>T	ENSP00000460092.3:p.Gly1719Cys
ENST00000573891.6:c.568G>T
ENST00000574822.6:n.373G>T
ENST00000585802.6:c.310G>T	ENSP00000465598.2:p.Gly104Cys
ENST00000593267.2:n.354G>T
ENST00000635727.1:c.5152G>T	ENSP00000490001.1:p.Gly1718Cys
ENST00000635742.1:n.1138G>T
ENST00000635895.1:c.5152G>T	ENSP00000490323.1:p.Gly1718Cys
ENST00000636012.1:c.5152G>T	ENSP00000490223.1:p.Gly1718Cys
ENST00000636058.1:c.464G>T
ENST00000636389.1:c.5152G>T	ENSP00000489992.1:p.Gly1718Cys
ENST00000636473.1:c.244G>T	ENSP00000490173.1:p.Gly82Cys
ENST00000636549.1:c.5158G>T	ENSP00000490578.1:p.Gly1720Cys
ENST00000637276.1:c.5152G>T	ENSP00000489777.1:p.Gly1718Cys
ENST00000637297.1:c.445G>T	ENSP00000489692.1:p.Gly149Cys
ENST00000637432.1:c.5167G>T	ENSP00000490617.1:p.Gly1723Cys
ENST00000637736.1:c.5011G>T	ENSP00000489861.1:p.Gly1671Cys
ENST00000637769.1:c.5152G>T	ENSP00000489778.1:p.Gly1718Cys
ENST00000637777.1:c.343G>T
ENST00000637809.1:n.542G>T
ENST00000637819.1:c.553G>T	ENSP00000490686.1:p.Gly185Cys
ENST00000637832.1:n.143G>T
ENST00000637927.1:c.5155G>T	ENSP00000489715.1:p.Gly1719Cys
ENST00000638009.2:c.5152G>T	ENSP00000489913.1:p.Gly1718Cys
ENST00000638029.1:c.5167G>T	ENSP00000489829.1:p.Gly1723Cys
ENST00000664864.1:c.5353G>T	ENSP00000499449.1:p.Gly1785Cys
ENST00000360228.9:c.5149G>T	ENSP00000353362.5:p.Gly1717Cys
ENST00000573710.6:c.5152G>T	ENSP00000460092.2:p.Gly1718Cys
ENST00000573891.5:c.568G>T
ENST00000574822.5:n.373G>T
ENST00000585802.5:c.1207G>T	ENSP00000465598.1:p.Gly403Cys
ENST00000587525.5:c.610G>T	ENSP00000467729.1:p.Gly204Cys
ENST00000593267.1:n.354G>T
ENST00000614285.4:c.5167G>T	ENSP00000479983.1:p.Gly1723Cys
NM_000068.3:c.5167G>T	NP_000059.3:p.Gly1723Cys
NM_001127221.1:c.5152G>T , LRG_7t1:c.5152G>T	NP_001120693.1:p.Gly1718Cys
NM_001127222.1:c.5149G>T	NP_001120694.1:p.Gly1717Cys
NM_001174080.1:c.5158G>T	NP_001167551.1:p.Gly1720Cys
NM_023035.2:c.5167G>T	NP_075461.2:p.Gly1723Cys
NM_000068.4:c.5167G>T	NP_000059.3:p.Gly1723Cys
NM_001127222.2:c.5149G>T MANE Select	NP_001120694.1:p.Gly1717Cys
NM_001174080.2:c.5158G>T	NP_001167551.1:p.Gly1720Cys
NM_023035.3:c.5167G>T	NP_075461.2:p.Gly1723Cys
NM_001127221.2:c.5152G>T	NP_001120693.1:p.Gly1718Cys