Canonical Allele Identifier: CA254450
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 8499
ClinVar RCV Id: RCV000009022
dbSNP Id: rs121908219
MyVariant Identifiers: chr19:g.13372366T>C (hg19) chr19:g.13261552T>C (hg38)
PubMed: PMID:8898206 PMID:11061267
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13261552T>C , CM000681.2:g.13261552T>C GRCh38
NC_000019.9:g.13372366T>C , CM000681.1:g.13372366T>C GRCh37
NC_000019.8:g.13233366T>C NCBI36
NG_011569.1:g.249909A>G , LRG_7:g.249909A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.4148A>G MANE Select ENSP00000353362.5:p.Tyr1383Cys
ENST00000573710.7:c.4154A>G ENSP00000460092.3:p.Tyr1385Cys
ENST00000590205.2:n.1154A>G
ENST00000635727.1:c.4151A>G ENSP00000490001.1:p.Tyr1384Cys
ENST00000635742.1:n.137A>G
ENST00000635895.1:c.4151A>G ENSP00000490323.1:p.Tyr1384Cys
ENST00000635917.1:n.640A>G
ENST00000636012.1:c.4151A>G ENSP00000490223.1:p.Tyr1384Cys
ENST00000636389.1:c.4151A>G ENSP00000489992.1:p.Tyr1384Cys
ENST00000636549.1:c.4151A>G ENSP00000490578.1:p.Tyr1384Cys
ENST00000636816.1:n.836A>G
ENST00000637004.1:n.614A>G
ENST00000637276.1:c.4151A>G ENSP00000489777.1:p.Tyr1384Cys
ENST00000637432.1:c.4160A>G ENSP00000490617.1:p.Tyr1387Cys
ENST00000637692.1:n.470A>G
ENST00000637736.1:c.4010A>G ENSP00000489861.1:p.Tyr1337Cys
ENST00000637769.1:c.4151A>G ENSP00000489778.1:p.Tyr1384Cys
ENST00000637927.1:c.4154A>G ENSP00000489715.1:p.Tyr1385Cys
ENST00000638009.2:c.4151A>G ENSP00000489913.1:p.Tyr1384Cys
ENST00000638029.1:c.4160A>G ENSP00000489829.1:p.Tyr1387Cys
ENST00000664864.1:c.4346A>G ENSP00000499449.1:p.Tyr1449Cys
ENST00000360228.9:c.4148A>G ENSP00000353362.5:p.Tyr1383Cys
ENST00000573710.6:c.4151A>G ENSP00000460092.2:p.Tyr1384Cys
ENST00000585802.5:c.206A>G ENSP00000465598.1:p.Tyr69Cys
ENST00000590205.1:n.227A>G
ENST00000614285.4:c.4160A>G ENSP00000479983.1:p.Tyr1387Cys
NM_000068.3:c.4160A>G NP_000059.3:p.Tyr1387Cys
NM_001127221.1:c.4151A>G , LRG_7t1:c.4151A>G NP_001120693.1:p.Tyr1384Cys
NM_001127222.1:c.4148A>G NP_001120694.1:p.Tyr1383Cys
NM_001174080.1:c.4151A>G NP_001167551.1:p.Tyr1384Cys
NM_023035.2:c.4160A>G NP_075461.2:p.Tyr1387Cys
NM_000068.4:c.4160A>G NP_000059.3:p.Tyr1387Cys
NM_001127222.2:c.4148A>G MANE Select NP_001120694.1:p.Tyr1383Cys
NM_001174080.2:c.4151A>G NP_001167551.1:p.Tyr1384Cys
NM_023035.3:c.4160A>G NP_075461.2:p.Tyr1387Cys
NM_001127221.2:c.4151A>G NP_001120693.1:p.Tyr1384Cys
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