Canonical Allele Identifier: CA404340020

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 1679524
• ClinVar RCV Id: RCV002227403 ; RCV003234171 ; RCV003314034
• dbSNP Id: rs2144773045
• MyVariant Identifiers: chr19:g.13373606A>G (hg19) ; chr19:g.13262792A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262792A>G , CM000681.2:g.13262792A>G	GRCh38
NC_000019.9:g.13373606A>G , CM000681.1:g.13373606A>G	GRCh37
NC_000019.8:g.13234606A>G	NCBI36
NG_011569.1:g.248669T>C , LRG_7:g.248669T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4031T>C MANE Select	ENSP00000353362.5:p.Leu1344Pro
ENST00000573710.7:c.4037T>C	ENSP00000460092.3:p.Leu1346Pro
ENST00000635727.1:c.4034T>C	ENSP00000490001.1:p.Leu1345Pro
ENST00000635742.1:n.20T>C
ENST00000635895.1:c.4034T>C	ENSP00000490323.1:p.Leu1345Pro
ENST00000635917.1:n.523T>C
ENST00000636012.1:c.4034T>C	ENSP00000490223.1:p.Leu1345Pro
ENST00000636389.1:c.4034T>C	ENSP00000489992.1:p.Leu1345Pro
ENST00000636549.1:c.4034T>C	ENSP00000490578.1:p.Leu1345Pro
ENST00000636816.1:n.719T>C
ENST00000637004.1:n.497T>C
ENST00000637276.1:c.4034T>C	ENSP00000489777.1:p.Leu1345Pro
ENST00000637432.1:c.4043T>C	ENSP00000490617.1:p.Leu1348Pro
ENST00000637692.1:n.353T>C
ENST00000637736.1:c.3893T>C	ENSP00000489861.1:p.Leu1298Pro
ENST00000637769.1:c.4034T>C	ENSP00000489778.1:p.Leu1345Pro
ENST00000637927.1:c.4037T>C	ENSP00000489715.1:p.Leu1346Pro
ENST00000638009.2:c.4034T>C	ENSP00000489913.1:p.Leu1345Pro
ENST00000638029.1:c.4043T>C	ENSP00000489829.1:p.Leu1348Pro
ENST00000664864.1:c.4229T>C	ENSP00000499449.1:p.Leu1410Pro
ENST00000360228.9:c.4031T>C	ENSP00000353362.5:p.Leu1344Pro
ENST00000573710.6:c.4034T>C	ENSP00000460092.2:p.Leu1345Pro
ENST00000585802.5:c.89T>C	ENSP00000465598.1:p.Leu30Pro
ENST00000590205.1:n.110T>C
ENST00000614285.4:c.4043T>C	ENSP00000479983.1:p.Leu1348Pro
NM_000068.3:c.4043T>C	NP_000059.3:p.Leu1348Pro
NM_001127221.1:c.4034T>C , LRG_7t1:c.4034T>C	NP_001120693.1:p.Leu1345Pro
NM_001127222.1:c.4031T>C	NP_001120694.1:p.Leu1344Pro
NM_001174080.1:c.4034T>C	NP_001167551.1:p.Leu1345Pro
NM_023035.2:c.4043T>C	NP_075461.2:p.Leu1348Pro
NM_000068.4:c.4043T>C	NP_000059.3:p.Leu1348Pro
NM_001127222.2:c.4031T>C MANE Select	NP_001120694.1:p.Leu1344Pro
NM_001174080.2:c.4034T>C	NP_001167551.1:p.Leu1345Pro
NM_023035.3:c.4043T>C	NP_075461.2:p.Leu1348Pro
NM_001127221.2:c.4034T>C	NP_001120693.1:p.Leu1345Pro