Canonical Allele Identifier: CA632123046

Gene: CACNA1A

Linked Data

• dbSNP Id: rs1394313396
• gnomAD v2: 19-13366104-C-G
• MyVariant Identifiers: chr19:g.13366104C>G (hg19) ; chr19:g.13255290C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13255290C>G , CM000681.2:g.13255290C>G	GRCh38
NC_000019.9:g.13366104C>G , CM000681.1:g.13366104C>G	GRCh37
NC_000019.8:g.13227104C>G	NCBI36
NG_011569.1:g.256171G>C , LRG_7:g.256171G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4591-31G>C MANE Select	ENSP00000353362.5:n.4591-31G>C
ENST00000573710.7:c.4597-31G>C	ENSP00000460092.3:n.4597-31G>C
ENST00000635727.1:c.4594-31G>C	ENSP00000490001.1:n.4594-31G>C
ENST00000635742.1:n.580-31G>C
ENST00000635895.1:c.4594-31G>C	ENSP00000490323.1:n.4594-31G>C
ENST00000635917.1:n.1083-31G>C
ENST00000636012.1:c.4594-31G>C	ENSP00000490223.1:n.4594-31G>C
ENST00000636389.1:c.4594-31G>C	ENSP00000489992.1:n.4594-31G>C
ENST00000636549.1:c.4594-31G>C	ENSP00000490578.1:n.4594-31G>C
ENST00000636816.1:n.1279-31G>C
ENST00000637004.1:n.1057-31G>C
ENST00000637276.1:c.4594-31G>C	ENSP00000489777.1:n.4594-31G>C
ENST00000637297.1:c.246+2060G>C	ENSP00000489692.1:n.246+2060G>C
ENST00000637432.1:c.4603-31G>C	ENSP00000490617.1:n.4603-31G>C
ENST00000637692.1:n.913-31G>C
ENST00000637736.1:c.4453-31G>C	ENSP00000489861.1:n.4453-31G>C
ENST00000637769.1:c.4594-31G>C	ENSP00000489778.1:n.4594-31G>C
ENST00000637927.1:c.4597-31G>C	ENSP00000489715.1:n.4597-31G>C
ENST00000638009.2:c.4594-31G>C	ENSP00000489913.1:n.4594-31G>C
ENST00000638029.1:c.4603-31G>C	ENSP00000489829.1:n.4603-31G>C
ENST00000664864.1:c.4789-31G>C	ENSP00000499449.1:n.4789-31G>C
ENST00000360228.9:c.4591-31G>C	ENSP00000353362.5:n.4591-31G>C
ENST00000573710.6:c.4594-31G>C	ENSP00000460092.2:n.4594-31G>C
ENST00000585802.5:c.649-31G>C	ENSP00000465598.1:n.649-31G>C
ENST00000587525.5:c.52-31G>C	ENSP00000467729.1:n.52-31G>C
ENST00000614285.4:c.4603-31G>C	ENSP00000479983.1:n.4603-31G>C
NM_000068.3:c.4603-31G>C	NP_000059.3:n.4603-31G>C
NM_001127221.1:c.4594-31G>C , LRG_7t1:c.4594-31G>C	NP_001120693.1:n.4594-31G>C
NM_001127222.1:c.4591-31G>C	NP_001120694.1:n.4591-31G>C
NM_001174080.1:c.4594-31G>C	NP_001167551.1:n.4594-31G>C
NM_023035.2:c.4603-31G>C	NP_075461.2:n.4603-31G>C
NM_000068.4:c.4603-31G>C	NP_000059.3:n.4603-31G>C
NM_001127222.2:c.4591-31G>C MANE Select	NP_001120694.1:n.4591-31G>C
NM_001174080.2:c.4594-31G>C	NP_001167551.1:n.4594-31G>C
NM_023035.3:c.4603-31G>C	NP_075461.2:n.4603-31G>C
NM_001127221.2:c.4594-31G>C	NP_001120693.1:n.4594-31G>C