Canonical Allele Identifier: CA404335767

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 2034772
• ClinVar RCV Id: RCV002877160
• MyVariant Identifiers: chr19:g.13345844C>G (hg19) ; chr19:g.13235030C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235030C>G , CM000681.2:g.13235030C>G	GRCh38
NC_000019.9:g.13345844C>G , CM000681.1:g.13345844C>G	GRCh37
NC_000019.8:g.13206844C>G	NCBI36
NG_011569.1:g.276431G>C , LRG_7:g.276431G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5140G>C MANE Select	ENSP00000353362.5:p.Gly1714Arg
ENST00000573710.7:c.5146G>C	ENSP00000460092.3:p.Gly1716Arg
ENST00000573891.6:c.559G>C
ENST00000574822.6:n.364G>C
ENST00000585802.6:c.301G>C	ENSP00000465598.2:p.Gly101Arg
ENST00000593267.2:n.345G>C
ENST00000635727.1:c.5143G>C	ENSP00000490001.1:p.Gly1715Arg
ENST00000635742.1:n.1129G>C
ENST00000635895.1:c.5143G>C	ENSP00000490323.1:p.Gly1715Arg
ENST00000636012.1:c.5143G>C	ENSP00000490223.1:p.Gly1715Arg
ENST00000636058.1:c.455G>C
ENST00000636389.1:c.5143G>C	ENSP00000489992.1:p.Gly1715Arg
ENST00000636473.1:c.235G>C	ENSP00000490173.1:p.Gly79Arg
ENST00000636549.1:c.5149G>C	ENSP00000490578.1:p.Gly1717Arg
ENST00000637276.1:c.5143G>C	ENSP00000489777.1:p.Gly1715Arg
ENST00000637297.1:c.436G>C	ENSP00000489692.1:p.Gly146Arg
ENST00000637432.1:c.5158G>C	ENSP00000490617.1:p.Gly1720Arg
ENST00000637736.1:c.5002G>C	ENSP00000489861.1:p.Gly1668Arg
ENST00000637769.1:c.5143G>C	ENSP00000489778.1:p.Gly1715Arg
ENST00000637777.1:c.334G>C
ENST00000637809.1:n.533G>C
ENST00000637819.1:c.544G>C	ENSP00000490686.1:p.Gly182Arg
ENST00000637832.1:n.134G>C
ENST00000637927.1:c.5146G>C	ENSP00000489715.1:p.Gly1716Arg
ENST00000638009.2:c.5143G>C	ENSP00000489913.1:p.Gly1715Arg
ENST00000638029.1:c.5158G>C	ENSP00000489829.1:p.Gly1720Arg
ENST00000664864.1:c.5344G>C	ENSP00000499449.1:p.Gly1782Arg
ENST00000360228.9:c.5140G>C	ENSP00000353362.5:p.Gly1714Arg
ENST00000573710.6:c.5143G>C	ENSP00000460092.2:p.Gly1715Arg
ENST00000573891.5:c.559G>C
ENST00000574822.5:n.364G>C
ENST00000585802.5:c.1198G>C	ENSP00000465598.1:p.Gly400Arg
ENST00000587525.5:c.601G>C	ENSP00000467729.1:p.Gly201Arg
ENST00000593267.1:n.345G>C
ENST00000614285.4:c.5158G>C	ENSP00000479983.1:p.Gly1720Arg
NM_000068.3:c.5158G>C	NP_000059.3:p.Gly1720Arg
NM_001127221.1:c.5143G>C , LRG_7t1:c.5143G>C	NP_001120693.1:p.Gly1715Arg
NM_001127222.1:c.5140G>C	NP_001120694.1:p.Gly1714Arg
NM_001174080.1:c.5149G>C	NP_001167551.1:p.Gly1717Arg
NM_023035.2:c.5158G>C	NP_075461.2:p.Gly1720Arg
NM_000068.4:c.5158G>C	NP_000059.3:p.Gly1720Arg
NM_001127222.2:c.5140G>C MANE Select	NP_001120694.1:p.Gly1714Arg
NM_001174080.2:c.5149G>C	NP_001167551.1:p.Gly1717Arg
NM_023035.3:c.5158G>C	NP_075461.2:p.Gly1720Arg
NM_001127221.2:c.5143G>C	NP_001120693.1:p.Gly1715Arg