Canonical Allele Identifier: CA404339961

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 1000333
• ClinVar RCV Id: RCV001296448 ; RCV002227269 ; RCV003145516 ; RCV003883173
• dbSNP Id: rs2056767062
• MyVariant Identifiers: chr19:g.13373573G>A (hg19) ; chr19:g.13262759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262759G>A , CM000681.2:g.13262759G>A	GRCh38
NC_000019.9:g.13373573G>A , CM000681.1:g.13373573G>A	GRCh37
NC_000019.8:g.13234573G>A	NCBI36
NG_011569.1:g.248702C>T , LRG_7:g.248702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4064C>T MANE Select	ENSP00000353362.5:p.Thr1355Ile
ENST00000573710.7:c.4070C>T	ENSP00000460092.3:p.Thr1357Ile
ENST00000635727.1:c.4067C>T	ENSP00000490001.1:p.Thr1356Ile
ENST00000635742.1:n.53C>T
ENST00000635895.1:c.4067C>T	ENSP00000490323.1:p.Thr1356Ile
ENST00000635917.1:n.556C>T
ENST00000636012.1:c.4067C>T	ENSP00000490223.1:p.Thr1356Ile
ENST00000636389.1:c.4067C>T	ENSP00000489992.1:p.Thr1356Ile
ENST00000636549.1:c.4067C>T	ENSP00000490578.1:p.Thr1356Ile
ENST00000636816.1:n.752C>T
ENST00000637004.1:n.530C>T
ENST00000637276.1:c.4067C>T	ENSP00000489777.1:p.Thr1356Ile
ENST00000637432.1:c.4076C>T	ENSP00000490617.1:p.Thr1359Ile
ENST00000637692.1:n.386C>T
ENST00000637736.1:c.3926C>T	ENSP00000489861.1:p.Thr1309Ile
ENST00000637769.1:c.4067C>T	ENSP00000489778.1:p.Thr1356Ile
ENST00000637927.1:c.4070C>T	ENSP00000489715.1:p.Thr1357Ile
ENST00000638009.2:c.4067C>T	ENSP00000489913.1:p.Thr1356Ile
ENST00000638029.1:c.4076C>T	ENSP00000489829.1:p.Thr1359Ile
ENST00000664864.1:c.4262C>T	ENSP00000499449.1:p.Thr1421Ile
ENST00000360228.9:c.4064C>T	ENSP00000353362.5:p.Thr1355Ile
ENST00000573710.6:c.4067C>T	ENSP00000460092.2:p.Thr1356Ile
ENST00000585802.5:c.122C>T	ENSP00000465598.1:p.Thr41Ile
ENST00000590205.1:n.143C>T
ENST00000614285.4:c.4076C>T	ENSP00000479983.1:p.Thr1359Ile
NM_000068.3:c.4076C>T	NP_000059.3:p.Thr1359Ile
NM_001127221.1:c.4067C>T , LRG_7t1:c.4067C>T	NP_001120693.1:p.Thr1356Ile
NM_001127222.1:c.4064C>T	NP_001120694.1:p.Thr1355Ile
NM_001174080.1:c.4067C>T	NP_001167551.1:p.Thr1356Ile
NM_023035.2:c.4076C>T	NP_075461.2:p.Thr1359Ile
NM_000068.4:c.4076C>T	NP_000059.3:p.Thr1359Ile
NM_001127222.2:c.4064C>T MANE Select	NP_001120694.1:p.Thr1355Ile
NM_001174080.2:c.4067C>T	NP_001167551.1:p.Thr1356Ile
NM_023035.3:c.4076C>T	NP_075461.2:p.Thr1359Ile
NM_001127221.2:c.4067C>T	NP_001120693.1:p.Thr1356Ile