Canonical Allele Identifier: CA404338530

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13366002G>T (hg19) ; chr19:g.13255188G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13255188G>T , CM000681.2:g.13255188G>T	GRCh38
NC_000019.9:g.13366002G>T , CM000681.1:g.13366002G>T	GRCh37
NC_000019.8:g.13227002G>T	NCBI36
NG_011569.1:g.256273C>A , LRG_7:g.256273C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4662C>A MANE Select	ENSP00000353362.5:p.Phe1554Leu
ENST00000573710.7:c.4668C>A	ENSP00000460092.3:p.Phe1556Leu
ENST00000635727.1:c.4665C>A	ENSP00000490001.1:p.Phe1555Leu
ENST00000635742.1:n.651C>A
ENST00000635895.1:c.4665C>A	ENSP00000490323.1:p.Phe1555Leu
ENST00000635917.1:n.1154C>A
ENST00000636012.1:c.4665C>A	ENSP00000490223.1:p.Phe1555Leu
ENST00000636389.1:c.4665C>A	ENSP00000489992.1:p.Phe1555Leu
ENST00000636549.1:c.4665C>A	ENSP00000490578.1:p.Phe1555Leu
ENST00000636816.1:n.1350C>A
ENST00000637004.1:n.1128C>A
ENST00000637276.1:c.4665C>A	ENSP00000489777.1:p.Phe1555Leu
ENST00000637297.1:c.246+2162C>A	ENSP00000489692.1:n.246+2162C>A
ENST00000637432.1:c.4674C>A	ENSP00000490617.1:p.Phe1558Leu
ENST00000637692.1:n.984C>A
ENST00000637736.1:c.4524C>A	ENSP00000489861.1:p.Phe1508Leu
ENST00000637769.1:c.4665C>A	ENSP00000489778.1:p.Phe1555Leu
ENST00000637819.1:c.60C>A	ENSP00000490686.1:p.Phe20Leu
ENST00000637927.1:c.4668C>A	ENSP00000489715.1:p.Phe1556Leu
ENST00000638009.2:c.4665C>A	ENSP00000489913.1:p.Phe1555Leu
ENST00000638029.1:c.4674C>A	ENSP00000489829.1:p.Phe1558Leu
ENST00000664864.1:c.4860C>A	ENSP00000499449.1:p.Phe1620Leu
ENST00000360228.9:c.4662C>A	ENSP00000353362.5:p.Phe1554Leu
ENST00000573710.6:c.4665C>A	ENSP00000460092.2:p.Phe1555Leu
ENST00000585802.5:c.720C>A	ENSP00000465598.1:p.Phe240Leu
ENST00000587525.5:c.123C>A	ENSP00000467729.1:p.Phe41Leu
ENST00000614285.4:c.4674C>A	ENSP00000479983.1:p.Phe1558Leu
NM_000068.3:c.4674C>A	NP_000059.3:p.Phe1558Leu
NM_001127221.1:c.4665C>A , LRG_7t1:c.4665C>A	NP_001120693.1:p.Phe1555Leu
NM_001127222.1:c.4662C>A	NP_001120694.1:p.Phe1554Leu
NM_001174080.1:c.4665C>A	NP_001167551.1:p.Phe1555Leu
NM_023035.2:c.4674C>A	NP_075461.2:p.Phe1558Leu
NM_000068.4:c.4674C>A	NP_000059.3:p.Phe1558Leu
NM_001127222.2:c.4662C>A MANE Select	NP_001120694.1:p.Phe1554Leu
NM_001174080.2:c.4665C>A	NP_001167551.1:p.Phe1555Leu
NM_023035.3:c.4674C>A	NP_075461.2:p.Phe1558Leu
NM_001127221.2:c.4665C>A	NP_001120693.1:p.Phe1555Leu