Canonical Allele Identifier: CA16620778
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 420055
ClinVar RCV Id: RCV000485872 RCV000853325 RCV001851179 RCV002227166
dbSNP Id: rs1064794261
gnomAD v4: 19-13231717-G-A
COSMIC: COSM1726933 COSM1726934 COSM1726935 COSM1726936
MyVariant Identifiers: chr19:g.13342531G>A (hg19) chr19:g.13231717G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13231717G>A , CM000681.2:g.13231717G>A GRCh38
NC_000019.9:g.13342531G>A , CM000681.1:g.13342531G>A GRCh37
NC_000019.8:g.13203531G>A NCBI36
NG_011569.1:g.279744C>T , LRG_7:g.279744C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.5393C>T MANE Select ENSP00000353362.5:p.Ser1798Leu
ENST00000573710.7:c.5399C>T ENSP00000460092.3:p.Ser1800Leu
ENST00000573891.6:c.812C>T
ENST00000574822.6:n.617C>T
ENST00000585802.6:c.554C>T ENSP00000465598.2:p.Ser185Leu
ENST00000635727.1:c.5396C>T ENSP00000490001.1:p.Ser1799Leu
ENST00000635742.1:n.1382C>T
ENST00000635895.1:c.5396C>T ENSP00000490323.1:p.Ser1799Leu
ENST00000636012.1:c.5396C>T ENSP00000490223.1:p.Ser1799Leu
ENST00000636389.1:c.5396C>T ENSP00000489992.1:p.Ser1799Leu
ENST00000636473.1:c.488C>T ENSP00000490173.1:p.Ser163Leu
ENST00000636549.1:c.5402C>T ENSP00000490578.1:p.Ser1801Leu
ENST00000636768.1:c.20C>T ENSP00000490190.1:p.Ser7Leu
ENST00000637276.1:c.5396C>T ENSP00000489777.1:p.Ser1799Leu
ENST00000637432.1:c.5411C>T ENSP00000490617.1:p.Ser1804Leu
ENST00000637736.1:c.5255C>T ENSP00000489861.1:p.Ser1752Leu
ENST00000637769.1:c.5396C>T ENSP00000489778.1:p.Ser1799Leu
ENST00000637777.1:c.587C>T
ENST00000637809.1:n.786C>T
ENST00000637819.1:c.797C>T ENSP00000490686.1:p.Ser266Leu
ENST00000637832.1:n.387C>T
ENST00000637927.1:c.5399C>T ENSP00000489715.1:p.Ser1800Leu
ENST00000638009.2:c.5396C>T ENSP00000489913.1:p.Ser1799Leu
ENST00000638029.1:c.5411C>T ENSP00000489829.1:p.Ser1804Leu
ENST00000664864.1:c.5597C>T ENSP00000499449.1:p.Ser1866Leu
ENST00000360228.9:c.5393C>T ENSP00000353362.5:p.Ser1798Leu
ENST00000573710.6:c.5396C>T ENSP00000460092.2:p.Ser1799Leu
ENST00000573891.5:c.812C>T
ENST00000574822.5:n.617C>T
ENST00000585802.5:c.1451C>T ENSP00000465598.1:p.Ser484Leu
ENST00000587525.5:c.854C>T ENSP00000467729.1:p.Ser285Leu
ENST00000614285.4:c.5411C>T ENSP00000479983.1:p.Ser1804Leu
NM_000068.3:c.5411C>T NP_000059.3:p.Ser1804Leu
NM_001127221.1:c.5396C>T , LRG_7t1:c.5396C>T NP_001120693.1:p.Ser1799Leu
NM_001127222.1:c.5393C>T NP_001120694.1:p.Ser1798Leu
NM_001174080.1:c.5402C>T NP_001167551.1:p.Ser1801Leu
NM_023035.2:c.5411C>T NP_075461.2:p.Ser1804Leu
NM_000068.4:c.5411C>T NP_000059.3:p.Ser1804Leu
NM_001127222.2:c.5393C>T MANE Select NP_001120694.1:p.Ser1798Leu
NM_001174080.2:c.5402C>T NP_001167551.1:p.Ser1801Leu
NM_023035.3:c.5411C>T NP_075461.2:p.Ser1804Leu
NM_001127221.2:c.5396C>T NP_001120693.1:p.Ser1799Leu
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