Canonical Allele Identifier: CA505660110

Gene: CACNA1A

Linked Data

• dbSNP Id: rs1211718294
• gnomAD v2: 19-13373557-T-C
• gnomAD v4: 19-13262743-T-C
• MyVariant Identifiers: chr19:g.13373557T>C (hg19) ; chr19:g.13262743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262743T>C , CM000681.2:g.13262743T>C	GRCh38
NC_000019.9:g.13373557T>C , CM000681.1:g.13373557T>C	GRCh37
NC_000019.8:g.13234557T>C	NCBI36
NG_011569.1:g.248718A>G , LRG_7:g.248718A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4080A>G MANE Select	ENSP00000353362.5:p.Pro1360=
ENST00000573710.7:c.4086A>G	ENSP00000460092.3:p.Pro1362=
ENST00000635727.1:c.4083A>G	ENSP00000490001.1:p.Pro1361=
ENST00000635742.1:n.69A>G
ENST00000635895.1:c.4083A>G	ENSP00000490323.1:p.Pro1361=
ENST00000635917.1:n.572A>G
ENST00000636012.1:c.4083A>G	ENSP00000490223.1:p.Pro1361=
ENST00000636389.1:c.4083A>G	ENSP00000489992.1:p.Pro1361=
ENST00000636549.1:c.4083A>G	ENSP00000490578.1:p.Pro1361=
ENST00000636816.1:n.768A>G
ENST00000637004.1:n.546A>G
ENST00000637276.1:c.4083A>G	ENSP00000489777.1:p.Pro1361=
ENST00000637432.1:c.4092A>G	ENSP00000490617.1:p.Pro1364=
ENST00000637692.1:n.402A>G
ENST00000637736.1:c.3942A>G	ENSP00000489861.1:p.Pro1314=
ENST00000637769.1:c.4083A>G	ENSP00000489778.1:p.Pro1361=
ENST00000637927.1:c.4086A>G	ENSP00000489715.1:p.Pro1362=
ENST00000638009.2:c.4083A>G	ENSP00000489913.1:p.Pro1361=
ENST00000638029.1:c.4092A>G	ENSP00000489829.1:p.Pro1364=
ENST00000664864.1:c.4278A>G	ENSP00000499449.1:p.Pro1426=
ENST00000360228.9:c.4080A>G	ENSP00000353362.5:p.Pro1360=
ENST00000573710.6:c.4083A>G	ENSP00000460092.2:p.Pro1361=
ENST00000585802.5:c.138A>G	ENSP00000465598.1:p.Pro46=
ENST00000590205.1:n.159A>G
ENST00000614285.4:c.4092A>G	ENSP00000479983.1:p.Pro1364=
NM_000068.3:c.4092A>G	NP_000059.3:p.Pro1364=
NM_001127221.1:c.4083A>G , LRG_7t1:c.4083A>G	NP_001120693.1:p.Pro1361=
NM_001127222.1:c.4080A>G	NP_001120694.1:p.Pro1360=
NM_001174080.1:c.4083A>G	NP_001167551.1:p.Pro1361=
NM_023035.2:c.4092A>G	NP_075461.2:p.Pro1364=
NM_000068.4:c.4092A>G	NP_000059.3:p.Pro1364=
NM_001127222.2:c.4080A>G MANE Select	NP_001120694.1:p.Pro1360=
NM_001174080.2:c.4083A>G	NP_001167551.1:p.Pro1361=
NM_023035.3:c.4092A>G	NP_075461.2:p.Pro1364=
NM_001127221.2:c.4083A>G	NP_001120693.1:p.Pro1361=