Canonical Allele Identifier: CA16043172
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 372910
ClinVar RCV Id: RCV000413385
dbSNP Id: rs1057518069
MyVariant Identifiers: chr19:g.13370383C>T (hg19) chr19:g.13259569C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13259569C>T , CM000681.2:g.13259569C>T GRCh38
NC_000019.9:g.13370383C>T , CM000681.1:g.13370383C>T GRCh37
NC_000019.8:g.13231383C>T NCBI36
NG_011569.1:g.251892G>A , LRG_7:g.251892G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.4383G>A MANE Select ENSP00000353362.5:p.Trp1461Ter
ENST00000573710.7:c.4389G>A ENSP00000460092.3:p.Trp1463Ter
ENST00000590205.2:n.3137G>A
ENST00000635727.1:c.4386G>A ENSP00000490001.1:p.Trp1462Ter
ENST00000635742.1:n.372G>A
ENST00000635895.1:c.4386G>A ENSP00000490323.1:p.Trp1462Ter
ENST00000635917.1:n.875G>A
ENST00000636012.1:c.4386G>A ENSP00000490223.1:p.Trp1462Ter
ENST00000636389.1:c.4386G>A ENSP00000489992.1:p.Trp1462Ter
ENST00000636549.1:c.4386G>A ENSP00000490578.1:p.Trp1462Ter
ENST00000636816.1:n.1071G>A
ENST00000636984.1:n.666G>A
ENST00000637004.1:n.849G>A
ENST00000637276.1:c.4386G>A ENSP00000489777.1:p.Trp1462Ter
ENST00000637297.1:c.39G>A ENSP00000489692.1:p.Trp13Ter
ENST00000637432.1:c.4395G>A ENSP00000490617.1:p.Trp1465Ter
ENST00000637692.1:n.705G>A
ENST00000637736.1:c.4245G>A ENSP00000489861.1:p.Trp1415Ter
ENST00000637769.1:c.4386G>A ENSP00000489778.1:p.Trp1462Ter
ENST00000637927.1:c.4389G>A ENSP00000489715.1:p.Trp1463Ter
ENST00000638009.2:c.4386G>A ENSP00000489913.1:p.Trp1462Ter
ENST00000638029.1:c.4395G>A ENSP00000489829.1:p.Trp1465Ter
ENST00000664864.1:c.4581G>A ENSP00000499449.1:p.Trp1527Ter
ENST00000360228.9:c.4383G>A ENSP00000353362.5:p.Trp1461Ter
ENST00000573710.6:c.4386G>A ENSP00000460092.2:p.Trp1462Ter
ENST00000585802.5:c.441G>A ENSP00000465598.1:p.Trp147Ter
ENST00000614285.4:c.4395G>A ENSP00000479983.1:p.Trp1465Ter
NM_000068.3:c.4395G>A NP_000059.3:p.Trp1465Ter
NM_001127221.1:c.4386G>A , LRG_7t1:c.4386G>A NP_001120693.1:p.Trp1462Ter
NM_001127222.1:c.4383G>A NP_001120694.1:p.Trp1461Ter
NM_001174080.1:c.4386G>A NP_001167551.1:p.Trp1462Ter
NM_023035.2:c.4395G>A NP_075461.2:p.Trp1465Ter
NM_000068.4:c.4395G>A NP_000059.3:p.Trp1465Ter
NM_001127222.2:c.4383G>A MANE Select NP_001120694.1:p.Trp1461Ter
NM_001174080.2:c.4386G>A NP_001167551.1:p.Trp1462Ter
NM_023035.3:c.4395G>A NP_075461.2:p.Trp1465Ter
NM_001127221.2:c.4386G>A NP_001120693.1:p.Trp1462Ter
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