Canonical Allele Identifier: CA254476

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 8506
• ClinVar RCV Id: RCV000009031 ; RCV001851752
• dbSNP Id: rs121909323
• MyVariant Identifiers: chr19:g.13387936G>A (hg19) ; chr19:g.13277122G>A (hg38)
• PubMed: PMID:9600739 ; PMID:11723274 ; PMID:25735478

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13277122G>A , CM000681.2:g.13277122G>A	GRCh38
NC_000019.9:g.13387936G>A , CM000681.1:g.13387936G>A	GRCh37
NC_000019.8:g.13248936G>A	NCBI36
NG_011569.1:g.234339C>T , LRG_7:g.234339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.3829C>T MANE Select	ENSP00000353362.5:p.Arg1277Ter
ENST00000573710.7:c.3835C>T	ENSP00000460092.3:p.Arg1279Ter
ENST00000635727.1:c.3832C>T	ENSP00000490001.1:p.Arg1278Ter
ENST00000635786.1:n.328C>T
ENST00000635895.1:c.3832C>T	ENSP00000490323.1:p.Arg1278Ter
ENST00000635917.1:n.321C>T
ENST00000636012.1:c.3832C>T	ENSP00000490223.1:p.Arg1278Ter
ENST00000636389.1:c.3832C>T	ENSP00000489992.1:p.Arg1278Ter
ENST00000636549.1:c.3832C>T	ENSP00000490578.1:p.Arg1278Ter
ENST00000637004.1:n.295C>T
ENST00000637276.1:c.3832C>T	ENSP00000489777.1:p.Arg1278Ter
ENST00000637432.1:c.3841C>T	ENSP00000490617.1:p.Arg1281Ter
ENST00000637485.1:n.812C>T
ENST00000637736.1:c.3691C>T	ENSP00000489861.1:p.Arg1231Ter
ENST00000637769.1:c.3832C>T	ENSP00000489778.1:p.Arg1278Ter
ENST00000637774.1:n.1309C>T
ENST00000637927.1:c.3835C>T	ENSP00000489715.1:p.Arg1279Ter
ENST00000638009.2:c.3832C>T	ENSP00000489913.1:p.Arg1278Ter
ENST00000638029.1:c.3841C>T	ENSP00000489829.1:p.Arg1281Ter
ENST00000664864.1:c.4027C>T	ENSP00000499449.1:p.Arg1343Ter
ENST00000360228.9:c.3829C>T	ENSP00000353362.5:p.Arg1277Ter
ENST00000573710.6:c.3832C>T	ENSP00000460092.2:p.Arg1278Ter
ENST00000614285.4:c.3841C>T	ENSP00000479983.1:p.Arg1281Ter
NM_000068.3:c.3841C>T	NP_000059.3:p.Arg1281Ter
NM_001127221.1:c.3832C>T , LRG_7t1:c.3832C>T	NP_001120693.1:p.Arg1278Ter
NM_001127222.1:c.3829C>T	NP_001120694.1:p.Arg1277Ter
NM_001174080.1:c.3832C>T	NP_001167551.1:p.Arg1278Ter
NM_023035.2:c.3841C>T	NP_075461.2:p.Arg1281Ter
NM_000068.4:c.3841C>T	NP_000059.3:p.Arg1281Ter
NM_001127222.2:c.3829C>T MANE Select	NP_001120694.1:p.Arg1277Ter
NM_001174080.2:c.3832C>T	NP_001167551.1:p.Arg1278Ter
NM_023035.3:c.3841C>T	NP_075461.2:p.Arg1281Ter
NM_001127221.2:c.3832C>T	NP_001120693.1:p.Arg1278Ter