Canonical Allele Identifier: CA16620782
Gene: CACNA1A HGNC NCBI

Linked Data

dbSNP Id: rs1064794629
MyVariant Identifiers: chr19:g.13368234G>T (hg19) chr19:g.13257420G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13257420G>T , CM000681.2:g.13257420G>T GRCh38
NC_000019.9:g.13368234G>T , CM000681.1:g.13368234G>T GRCh37
NC_000019.8:g.13229234G>T NCBI36
NG_011569.1:g.254041C>A , LRG_7:g.254041C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.4520C>A MANE Select ENSP00000353362.5:p.Ala1507Asp
ENST00000573710.7:c.4526C>A ENSP00000460092.3:p.Ala1509Asp
ENST00000635727.1:c.4523C>A ENSP00000490001.1:p.Ala1508Asp
ENST00000635742.1:n.509C>A
ENST00000635895.1:c.4523C>A ENSP00000490323.1:p.Ala1508Asp
ENST00000635917.1:n.1012C>A
ENST00000636012.1:c.4523C>A ENSP00000490223.1:p.Ala1508Asp
ENST00000636389.1:c.4523C>A ENSP00000489992.1:p.Ala1508Asp
ENST00000636549.1:c.4523C>A ENSP00000490578.1:p.Ala1508Asp
ENST00000636816.1:n.1208C>A
ENST00000636984.1:n.803C>A
ENST00000637004.1:n.986C>A
ENST00000637168.1:n.1747C>A
ENST00000637276.1:c.4523C>A ENSP00000489777.1:p.Ala1508Asp
ENST00000637297.1:c.176C>A ENSP00000489692.1:p.Ala59Asp
ENST00000637432.1:c.4532C>A ENSP00000490617.1:p.Ala1511Asp
ENST00000637692.1:n.842C>A
ENST00000637736.1:c.4382C>A ENSP00000489861.1:p.Ala1461Asp
ENST00000637769.1:c.4523C>A ENSP00000489778.1:p.Ala1508Asp
ENST00000637927.1:c.4526C>A ENSP00000489715.1:p.Ala1509Asp
ENST00000638009.2:c.4523C>A ENSP00000489913.1:p.Ala1508Asp
ENST00000638029.1:c.4532C>A ENSP00000489829.1:p.Ala1511Asp
ENST00000664864.1:c.4718C>A ENSP00000499449.1:p.Ala1573Asp
ENST00000360228.9:c.4520C>A ENSP00000353362.5:p.Ala1507Asp
ENST00000573710.6:c.4523C>A ENSP00000460092.2:p.Ala1508Asp
ENST00000585802.5:c.578C>A ENSP00000465598.1:p.Ala193Asp
ENST00000614285.4:c.4532C>A ENSP00000479983.1:p.Ala1511Asp
NM_000068.3:c.4532C>A NP_000059.3:p.Ala1511Asp
NM_001127221.1:c.4523C>A , LRG_7t1:c.4523C>A NP_001120693.1:p.Ala1508Asp
NM_001127222.1:c.4520C>A NP_001120694.1:p.Ala1507Asp
NM_001174080.1:c.4523C>A NP_001167551.1:p.Ala1508Asp
NM_023035.2:c.4532C>A NP_075461.2:p.Ala1511Asp
NM_000068.4:c.4532C>A NP_000059.3:p.Ala1511Asp
NM_001127222.2:c.4520C>A MANE Select NP_001120694.1:p.Ala1507Asp
NM_001174080.2:c.4523C>A NP_001167551.1:p.Ala1508Asp
NM_023035.3:c.4532C>A NP_075461.2:p.Ala1511Asp
NM_001127221.2:c.4523C>A NP_001120693.1:p.Ala1508Asp
Search 100 bp 5'
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