Canonical Allele Identifier: CA505657130

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13342578G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231764G>A , CM000681.2:g.13231764G>A	GRCh38
NC_000019.9:g.13342578G>A , CM000681.1:g.13342578G>A	GRCh37
NC_000019.8:g.13203578G>A	NCBI36
NG_011569.1:g.279697C>T , LRG_7:g.279697C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5346C>T MANE Select	ENSP00000353362.5:p.Gly1782=
ENST00000573710.7:c.5352C>T	ENSP00000460092.3:p.Gly1784=
ENST00000573891.6:c.765C>T
ENST00000574822.6:n.570C>T
ENST00000585802.6:c.507C>T	ENSP00000465598.2:p.Gly169=
ENST00000635727.1:c.5349C>T	ENSP00000490001.1:p.Gly1783=
ENST00000635742.1:n.1335C>T
ENST00000635895.1:c.5349C>T	ENSP00000490323.1:p.Gly1783=
ENST00000636012.1:c.5349C>T	ENSP00000490223.1:p.Gly1783=
ENST00000636389.1:c.5349C>T	ENSP00000489992.1:p.Gly1783=
ENST00000636473.1:c.441C>T	ENSP00000490173.1:p.Gly147=
ENST00000636549.1:c.5355C>T	ENSP00000490578.1:p.Gly1785=
ENST00000637276.1:c.5349C>T	ENSP00000489777.1:p.Gly1783=
ENST00000637432.1:c.5364C>T	ENSP00000490617.1:p.Gly1788=
ENST00000637736.1:c.5208C>T	ENSP00000489861.1:p.Gly1736=
ENST00000637769.1:c.5349C>T	ENSP00000489778.1:p.Gly1783=
ENST00000637777.1:c.540C>T
ENST00000637809.1:n.739C>T
ENST00000637819.1:c.750C>T	ENSP00000490686.1:p.Gly250=
ENST00000637832.1:n.340C>T
ENST00000637927.1:c.5352C>T	ENSP00000489715.1:p.Gly1784=
ENST00000638009.2:c.5349C>T	ENSP00000489913.1:p.Gly1783=
ENST00000638029.1:c.5364C>T	ENSP00000489829.1:p.Gly1788=
ENST00000664864.1:c.5550C>T	ENSP00000499449.1:p.Gly1850=
ENST00000360228.9:c.5346C>T	ENSP00000353362.5:p.Gly1782=
ENST00000573710.6:c.5349C>T	ENSP00000460092.2:p.Gly1783=
ENST00000573891.5:c.765C>T
ENST00000574822.5:n.570C>T
ENST00000585802.5:c.1404C>T	ENSP00000465598.1:p.Gly468=
ENST00000587525.5:c.807C>T	ENSP00000467729.1:p.Gly269=
ENST00000614285.4:c.5364C>T	ENSP00000479983.1:p.Gly1788=
NM_000068.3:c.5364C>T	NP_000059.3:p.Gly1788=
NM_001127221.1:c.5349C>T , LRG_7t1:c.5349C>T	NP_001120693.1:p.Gly1783=
NM_001127222.1:c.5346C>T	NP_001120694.1:p.Gly1782=
NM_001174080.1:c.5355C>T	NP_001167551.1:p.Gly1785=
NM_023035.2:c.5364C>T	NP_075461.2:p.Gly1788=
NM_000068.4:c.5364C>T	NP_000059.3:p.Gly1788=
NM_001127222.2:c.5346C>T MANE Select	NP_001120694.1:p.Gly1782=
NM_001174080.2:c.5355C>T	NP_001167551.1:p.Gly1785=
NM_023035.3:c.5364C>T	NP_075461.2:p.Gly1788=
NM_001127221.2:c.5349C>T	NP_001120693.1:p.Gly1783=