Canonical Allele Identifier: CA404339660

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13261506-G-T
• MyVariant Identifiers: chr19:g.13372320G>T (hg19) ; chr19:g.13261506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13261506G>T , CM000681.2:g.13261506G>T	GRCh38
NC_000019.9:g.13372320G>T , CM000681.1:g.13372320G>T	GRCh37
NC_000019.8:g.13233320G>T	NCBI36
NG_011569.1:g.249955C>A , LRG_7:g.249955C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4194C>A MANE Select	ENSP00000353362.5:p.Phe1398Leu
ENST00000573710.7:c.4200C>A	ENSP00000460092.3:p.Phe1400Leu
ENST00000590205.2:n.1200C>A
ENST00000635727.1:c.4197C>A	ENSP00000490001.1:p.Phe1399Leu
ENST00000635742.1:n.183C>A
ENST00000635895.1:c.4197C>A	ENSP00000490323.1:p.Phe1399Leu
ENST00000635917.1:n.686C>A
ENST00000636012.1:c.4197C>A	ENSP00000490223.1:p.Phe1399Leu
ENST00000636389.1:c.4197C>A	ENSP00000489992.1:p.Phe1399Leu
ENST00000636549.1:c.4197C>A	ENSP00000490578.1:p.Phe1399Leu
ENST00000636816.1:n.882C>A
ENST00000637004.1:n.660C>A
ENST00000637276.1:c.4197C>A	ENSP00000489777.1:p.Phe1399Leu
ENST00000637432.1:c.4206C>A	ENSP00000490617.1:p.Phe1402Leu
ENST00000637692.1:n.516C>A
ENST00000637736.1:c.4056C>A	ENSP00000489861.1:p.Phe1352Leu
ENST00000637769.1:c.4197C>A	ENSP00000489778.1:p.Phe1399Leu
ENST00000637927.1:c.4200C>A	ENSP00000489715.1:p.Phe1400Leu
ENST00000638009.2:c.4197C>A	ENSP00000489913.1:p.Phe1399Leu
ENST00000638029.1:c.4206C>A	ENSP00000489829.1:p.Phe1402Leu
ENST00000664864.1:c.4392C>A	ENSP00000499449.1:p.Phe1464Leu
ENST00000360228.9:c.4194C>A	ENSP00000353362.5:p.Phe1398Leu
ENST00000573710.6:c.4197C>A	ENSP00000460092.2:p.Phe1399Leu
ENST00000585802.5:c.252C>A	ENSP00000465598.1:p.Phe84Leu
ENST00000590205.1:n.273C>A
ENST00000614285.4:c.4206C>A	ENSP00000479983.1:p.Phe1402Leu
NM_000068.3:c.4206C>A	NP_000059.3:p.Phe1402Leu
NM_001127221.1:c.4197C>A , LRG_7t1:c.4197C>A	NP_001120693.1:p.Phe1399Leu
NM_001127222.1:c.4194C>A	NP_001120694.1:p.Phe1398Leu
NM_001174080.1:c.4197C>A	NP_001167551.1:p.Phe1399Leu
NM_023035.2:c.4206C>A	NP_075461.2:p.Phe1402Leu
NM_000068.4:c.4206C>A	NP_000059.3:p.Phe1402Leu
NM_001127222.2:c.4194C>A MANE Select	NP_001120694.1:p.Phe1398Leu
NM_001174080.2:c.4197C>A	NP_001167551.1:p.Phe1399Leu
NM_023035.3:c.4206C>A	NP_075461.2:p.Phe1402Leu
NM_001127221.2:c.4197C>A	NP_001120693.1:p.Phe1399Leu