Canonical Allele Identifier: CA16043844
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 374681
ClinVar RCV Id: RCV000416213
dbSNP Id: rs1057519197
MyVariant Identifiers: chr19:g.13342522A>G (hg19) chr19:g.13231708A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13231708A>G , CM000681.2:g.13231708A>G GRCh38
NC_000019.9:g.13342522A>G , CM000681.1:g.13342522A>G GRCh37
NC_000019.8:g.13203522A>G NCBI36
NG_011569.1:g.279753T>C , LRG_7:g.279753T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.5400+2T>C MANE Select ENSP00000353362.5:n.5400+2T>C
ENST00000573710.7:c.5406+2T>C ENSP00000460092.3:n.5406+2T>C
ENST00000573891.6:c.819+2T>C
ENST00000574822.6:n.624+2T>C
ENST00000585802.6:c.561+2T>C ENSP00000465598.2:n.561+2T>C
ENST00000635727.1:c.5403+2T>C ENSP00000490001.1:n.5403+2T>C
ENST00000635742.1:n.1389+2T>C
ENST00000635895.1:c.5403+2T>C ENSP00000490323.1:n.5403+2T>C
ENST00000636012.1:c.5403+2T>C ENSP00000490223.1:n.5403+2T>C
ENST00000636389.1:c.5403+2T>C ENSP00000489992.1:n.5403+2T>C
ENST00000636473.1:c.495+2T>C ENSP00000490173.1:n.495+2T>C
ENST00000636549.1:c.5409+2T>C ENSP00000490578.1:n.5409+2T>C
ENST00000636768.1:c.27+2T>C ENSP00000490190.1:n.27+2T>C
ENST00000637276.1:c.5403+2T>C ENSP00000489777.1:n.5403+2T>C
ENST00000637432.1:c.5418+2T>C ENSP00000490617.1:n.5418+2T>C
ENST00000637736.1:c.5262+2T>C ENSP00000489861.1:n.5262+2T>C
ENST00000637769.1:c.5403+2T>C ENSP00000489778.1:n.5403+2T>C
ENST00000637777.1:c.594+2T>C
ENST00000637809.1:n.793+2T>C
ENST00000637819.1:c.804+2T>C ENSP00000490686.1:n.804+2T>C
ENST00000637832.1:n.394+2T>C
ENST00000637927.1:c.5406+2T>C ENSP00000489715.1:n.5406+2T>C
ENST00000638009.2:c.5403+2T>C ENSP00000489913.1:n.5403+2T>C
ENST00000638029.1:c.5418+2T>C ENSP00000489829.1:n.5418+2T>C
ENST00000664864.1:c.5604+2T>C ENSP00000499449.1:n.5604+2T>C
ENST00000360228.9:c.5400+2T>C ENSP00000353362.5:n.5400+2T>C
ENST00000573710.6:c.5403+2T>C ENSP00000460092.2:n.5403+2T>C
ENST00000574822.5:n.624+2T>C
ENST00000585802.5:c.1458+2T>C ENSP00000465598.1:n.1458+2T>C
ENST00000587525.5:c.861+2T>C ENSP00000467729.1:n.861+2T>C
ENST00000614285.4:c.5418+2T>C ENSP00000479983.1:n.5418+2T>C
NM_000068.3:c.5418+2T>C NP_000059.3:n.5418+2T>C
NM_001127221.1:c.5403+2T>C , LRG_7t1:c.5403+2T>C NP_001120693.1:n.5403+2T>C
NM_001127222.1:c.5400+2T>C NP_001120694.1:n.5400+2T>C
NM_001174080.1:c.5409+2T>C NP_001167551.1:n.5409+2T>C
NM_023035.2:c.5418+2T>C NP_075461.2:n.5418+2T>C
NM_000068.4:c.5418+2T>C NP_000059.3:n.5418+2T>C
NM_001127222.2:c.5400+2T>C MANE Select NP_001120694.1:n.5400+2T>C
NM_001174080.2:c.5409+2T>C NP_001167551.1:n.5409+2T>C
NM_023035.3:c.5418+2T>C NP_075461.2:n.5418+2T>C
NM_001127221.2:c.5403+2T>C NP_001120693.1:n.5403+2T>C
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