Canonical Allele Identifier: CA505659737

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13259578-T-C
• MyVariant Identifiers: chr19:g.13370392T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13259578T>C , CM000681.2:g.13259578T>C	GRCh38
NC_000019.9:g.13370392T>C , CM000681.1:g.13370392T>C	GRCh37
NC_000019.8:g.13231392T>C	NCBI36
NG_011569.1:g.251883A>G , LRG_7:g.251883A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4374A>G MANE Select	ENSP00000353362.5:p.Gly1458=
ENST00000573710.7:c.4380A>G	ENSP00000460092.3:p.Gly1460=
ENST00000590205.2:n.3128A>G
ENST00000635727.1:c.4377A>G	ENSP00000490001.1:p.Gly1459=
ENST00000635742.1:n.363A>G
ENST00000635895.1:c.4377A>G	ENSP00000490323.1:p.Gly1459=
ENST00000635917.1:n.866A>G
ENST00000636012.1:c.4377A>G	ENSP00000490223.1:p.Gly1459=
ENST00000636389.1:c.4377A>G	ENSP00000489992.1:p.Gly1459=
ENST00000636549.1:c.4377A>G	ENSP00000490578.1:p.Gly1459=
ENST00000636816.1:n.1062A>G
ENST00000636984.1:n.657A>G
ENST00000637004.1:n.840A>G
ENST00000637276.1:c.4377A>G	ENSP00000489777.1:p.Gly1459=
ENST00000637297.1:c.30A>G	ENSP00000489692.1:p.Gly10=
ENST00000637432.1:c.4386A>G	ENSP00000490617.1:p.Gly1462=
ENST00000637692.1:n.696A>G
ENST00000637736.1:c.4236A>G	ENSP00000489861.1:p.Gly1412=
ENST00000637769.1:c.4377A>G	ENSP00000489778.1:p.Gly1459=
ENST00000637927.1:c.4380A>G	ENSP00000489715.1:p.Gly1460=
ENST00000638009.2:c.4377A>G	ENSP00000489913.1:p.Gly1459=
ENST00000638029.1:c.4386A>G	ENSP00000489829.1:p.Gly1462=
ENST00000664864.1:c.4572A>G	ENSP00000499449.1:p.Gly1524=
ENST00000360228.9:c.4374A>G	ENSP00000353362.5:p.Gly1458=
ENST00000573710.6:c.4377A>G	ENSP00000460092.2:p.Gly1459=
ENST00000585802.5:c.432A>G	ENSP00000465598.1:p.Gly144=
ENST00000614285.4:c.4386A>G	ENSP00000479983.1:p.Gly1462=
NM_000068.3:c.4386A>G	NP_000059.3:p.Gly1462=
NM_001127221.1:c.4377A>G , LRG_7t1:c.4377A>G	NP_001120693.1:p.Gly1459=
NM_001127222.1:c.4374A>G	NP_001120694.1:p.Gly1458=
NM_001174080.1:c.4377A>G	NP_001167551.1:p.Gly1459=
NM_023035.2:c.4386A>G	NP_075461.2:p.Gly1462=
NM_000068.4:c.4386A>G	NP_000059.3:p.Gly1462=
NM_001127222.2:c.4374A>G MANE Select	NP_001120694.1:p.Gly1458=
NM_001174080.2:c.4377A>G	NP_001167551.1:p.Gly1459=
NM_023035.3:c.4386A>G	NP_075461.2:p.Gly1462=
NM_001127221.2:c.4377A>G	NP_001120693.1:p.Gly1459=