Canonical Allele Identifier: CA266080

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 68442
• ClinVar RCV Id: RCV000059312 ; RCV001215900
• dbSNP Id: rs121908228
• COSMIC: COSM3529185 ; COSM3529186 ; COSM3529187 ; COSM3529188
• MyVariant Identifiers: chr19:g.13476158G>A (hg19) ; chr19:g.13365344G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13365344G>A , CM000681.2:g.13365344G>A	GRCh38
NC_000019.9:g.13476158G>A , CM000681.1:g.13476158G>A	GRCh37
NC_000019.8:g.13337158G>A	NCBI36
NG_011569.1:g.146117C>T , LRG_7:g.146117C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.757C>T MANE Select	ENSP00000353362.5:p.His253Tyr
ENST00000573710.7:c.757C>T	ENSP00000460092.3:p.His253Tyr
ENST00000593160.2:n.472C>T
ENST00000635727.1:c.757C>T	ENSP00000490001.1:p.His253Tyr
ENST00000635895.1:c.757C>T	ENSP00000490323.1:p.His253Tyr
ENST00000636012.1:c.757C>T	ENSP00000490223.1:p.His253Tyr
ENST00000636389.1:c.757C>T	ENSP00000489992.1:p.His253Tyr
ENST00000636549.1:c.757C>T	ENSP00000490578.1:p.His253Tyr
ENST00000636966.1:n.645C>T
ENST00000636974.1:n.116C>T
ENST00000637276.1:c.757C>T	ENSP00000489777.1:p.His253Tyr
ENST00000637432.1:c.757C>T	ENSP00000490617.1:p.His253Tyr
ENST00000637736.1:c.616C>T	ENSP00000489861.1:p.His206Tyr
ENST00000637769.1:c.757C>T	ENSP00000489778.1:p.His253Tyr
ENST00000637927.1:c.757C>T	ENSP00000489715.1:p.His253Tyr
ENST00000637952.1:n.955C>T
ENST00000637966.1:n.610C>T
ENST00000638009.2:c.757C>T	ENSP00000489913.1:p.His253Tyr
ENST00000638029.1:c.757C>T	ENSP00000489829.1:p.His253Tyr
ENST00000664864.1:c.952C>T	ENSP00000499449.1:p.His318Tyr
ENST00000360228.9:c.757C>T	ENSP00000353362.5:p.His253Tyr
ENST00000573710.6:c.757C>T	ENSP00000460092.2:p.His253Tyr
ENST00000614285.4:c.757C>T	ENSP00000479983.1:p.His253Tyr
NM_000068.3:c.757C>T	NP_000059.3:p.His253Tyr
NM_001127221.1:c.757C>T , LRG_7t1:c.757C>T	NP_001120693.1:p.His253Tyr
NM_001127222.1:c.757C>T	NP_001120694.1:p.His253Tyr
NM_001174080.1:c.757C>T	NP_001167551.1:p.His253Tyr
NM_023035.2:c.757C>T	NP_075461.2:p.His253Tyr
NM_000068.4:c.757C>T	NP_000059.3:p.His253Tyr
NM_001127222.2:c.757C>T MANE Select	NP_001120694.1:p.His253Tyr
NM_001174080.2:c.757C>T	NP_001167551.1:p.His253Tyr
NM_023035.3:c.757C>T	NP_075461.2:p.His253Tyr
NM_001127221.2:c.757C>T	NP_001120693.1:p.His253Tyr