Canonical Allele Identifier: CA404339250

Gene: CACNA1A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13259589C>T , CM000681.2:g.13259589C>T	GRCh38
NC_000019.9:g.13370403C>T , CM000681.1:g.13370403C>T	GRCh37
NC_000019.8:g.13231403C>T	NCBI36
NG_011569.1:g.251872G>A , LRG_7:g.251872G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4363G>A MANE Select	ENSP00000353362.5:p.Val1455Met
ENST00000573710.7:c.4369G>A	ENSP00000460092.3:p.Val1457Met
ENST00000590205.2:n.3117G>A
ENST00000635727.1:c.4366G>A	ENSP00000490001.1:p.Val1456Met
ENST00000635742.1:n.352G>A
ENST00000635895.1:c.4366G>A	ENSP00000490323.1:p.Val1456Met
ENST00000635917.1:n.855G>A
ENST00000636012.1:c.4366G>A	ENSP00000490223.1:p.Val1456Met
ENST00000636389.1:c.4366G>A	ENSP00000489992.1:p.Val1456Met
ENST00000636549.1:c.4366G>A	ENSP00000490578.1:p.Val1456Met
ENST00000636816.1:n.1051G>A
ENST00000636984.1:n.646G>A
ENST00000637004.1:n.829G>A
ENST00000637276.1:c.4366G>A	ENSP00000489777.1:p.Val1456Met
ENST00000637297.1:c.19G>A	ENSP00000489692.1:p.Val7Met
ENST00000637432.1:c.4375G>A	ENSP00000490617.1:p.Val1459Met
ENST00000637692.1:n.685G>A
ENST00000637736.1:c.4225G>A	ENSP00000489861.1:p.Val1409Met
ENST00000637769.1:c.4366G>A	ENSP00000489778.1:p.Val1456Met
ENST00000637927.1:c.4369G>A	ENSP00000489715.1:p.Val1457Met
ENST00000638009.2:c.4366G>A	ENSP00000489913.1:p.Val1456Met
ENST00000638029.1:c.4375G>A	ENSP00000489829.1:p.Val1459Met
ENST00000664864.1:c.4561G>A	ENSP00000499449.1:p.Val1521Met
ENST00000360228.9:c.4363G>A	ENSP00000353362.5:p.Val1455Met
ENST00000573710.6:c.4366G>A	ENSP00000460092.2:p.Val1456Met
ENST00000585802.5:c.421G>A	ENSP00000465598.1:p.Val141Met
ENST00000614285.4:c.4375G>A	ENSP00000479983.1:p.Val1459Met
NM_000068.3:c.4375G>A	NP_000059.3:p.Val1459Met
NM_001127221.1:c.4366G>A , LRG_7t1:c.4366G>A	NP_001120693.1:p.Val1456Met
NM_001127222.1:c.4363G>A	NP_001120694.1:p.Val1455Met
NM_001174080.1:c.4366G>A	NP_001167551.1:p.Val1456Met
NM_023035.2:c.4375G>A	NP_075461.2:p.Val1459Met
NM_000068.4:c.4375G>A	NP_000059.3:p.Val1459Met
NM_001127222.2:c.4363G>A MANE Select	NP_001120694.1:p.Val1455Met
NM_001174080.2:c.4366G>A	NP_001167551.1:p.Val1456Met
NM_023035.3:c.4375G>A	NP_075461.2:p.Val1459Met
NM_001127221.2:c.4366G>A	NP_001120693.1:p.Val1456Met