Canonical Allele Identifier: CA305516948

Gene: CACNA1A

Linked Data

• dbSNP Id: rs267605295
• gnomAD v4: 19-13235221-G-A
• MyVariant Identifiers: chr19:g.13346035G>A (hg19) ; chr19:g.13235221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235221G>A , CM000681.2:g.13235221G>A	GRCh38
NC_000019.9:g.13346035G>A , CM000681.1:g.13346035G>A	GRCh37
NC_000019.8:g.13207035G>A	NCBI36
NG_011569.1:g.276240C>T , LRG_7:g.276240C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5121C>T MANE Select	ENSP00000353362.5:p.Ile1707=
ENST00000573710.7:c.5127C>T	ENSP00000460092.3:p.Ile1709=
ENST00000573891.6:c.540C>T
ENST00000574822.6:n.345C>T
ENST00000585802.6:c.282C>T	ENSP00000465598.2:p.Ile94=
ENST00000593267.2:n.326C>T
ENST00000635727.1:c.5124C>T	ENSP00000490001.1:p.Ile1708=
ENST00000635742.1:n.1110C>T
ENST00000635895.1:c.5124C>T	ENSP00000490323.1:p.Ile1708=
ENST00000636012.1:c.5124C>T	ENSP00000490223.1:p.Ile1708=
ENST00000636058.1:c.436C>T
ENST00000636389.1:c.5124C>T	ENSP00000489992.1:p.Ile1708=
ENST00000636473.1:c.229-185C>T	ENSP00000490173.1:n.229-185C>T
ENST00000636549.1:c.5130C>T	ENSP00000490578.1:p.Ile1710=
ENST00000637276.1:c.5124C>T	ENSP00000489777.1:p.Ile1708=
ENST00000637297.1:c.417C>T	ENSP00000489692.1:p.Ile139=
ENST00000637432.1:c.5139C>T	ENSP00000490617.1:p.Ile1713=
ENST00000637736.1:c.4983C>T	ENSP00000489861.1:p.Ile1661=
ENST00000637769.1:c.5124C>T	ENSP00000489778.1:p.Ile1708=
ENST00000637777.1:c.328-185C>T
ENST00000637809.1:n.514C>T
ENST00000637819.1:c.525C>T	ENSP00000490686.1:p.Ile175=
ENST00000637832.1:n.115C>T
ENST00000637927.1:c.5127C>T	ENSP00000489715.1:p.Ile1709=
ENST00000638009.2:c.5124C>T	ENSP00000489913.1:p.Ile1708=
ENST00000638029.1:c.5139C>T	ENSP00000489829.1:p.Ile1713=
ENST00000664864.1:c.5325C>T	ENSP00000499449.1:p.Ile1775=
ENST00000360228.9:c.5121C>T	ENSP00000353362.5:p.Ile1707=
ENST00000573710.6:c.5124C>T	ENSP00000460092.2:p.Ile1708=
ENST00000573891.5:c.540C>T
ENST00000574822.5:n.345C>T
ENST00000585802.5:c.1179C>T	ENSP00000465598.1:p.Ile393=
ENST00000587525.5:c.582C>T	ENSP00000467729.1:p.Ile194=
ENST00000593267.1:n.326C>T
ENST00000614285.4:c.5139C>T	ENSP00000479983.1:p.Ile1713=
NM_000068.3:c.5139C>T	NP_000059.3:p.Ile1713=
NM_001127221.1:c.5124C>T , LRG_7t1:c.5124C>T	NP_001120693.1:p.Ile1708=
NM_001127222.1:c.5121C>T	NP_001120694.1:p.Ile1707=
NM_001174080.1:c.5130C>T	NP_001167551.1:p.Ile1710=
NM_023035.2:c.5139C>T	NP_075461.2:p.Ile1713=
NM_000068.4:c.5139C>T	NP_000059.3:p.Ile1713=
NM_001127222.2:c.5121C>T MANE Select	NP_001120694.1:p.Ile1707=
NM_001174080.2:c.5130C>T	NP_001167551.1:p.Ile1710=
NM_023035.3:c.5139C>T	NP_075461.2:p.Ile1713=
NM_001127221.2:c.5124C>T	NP_001120693.1:p.Ile1708=