Canonical Allele Identifier: CA404335769

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13345845A>C (hg19) ; chr19:g.13235031A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235031A>C , CM000681.2:g.13235031A>C	GRCh38
NC_000019.9:g.13345845A>C , CM000681.1:g.13345845A>C	GRCh37
NC_000019.8:g.13206845A>C	NCBI36
NG_011569.1:g.276430T>G , LRG_7:g.276430T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5139T>G MANE Select	ENSP00000353362.5:p.Phe1713Leu
ENST00000573710.7:c.5145T>G	ENSP00000460092.3:p.Phe1715Leu
ENST00000573891.6:c.558T>G
ENST00000574822.6:n.363T>G
ENST00000585802.6:c.300T>G	ENSP00000465598.2:p.Phe100Leu
ENST00000593267.2:n.344T>G
ENST00000635727.1:c.5142T>G	ENSP00000490001.1:p.Phe1714Leu
ENST00000635742.1:n.1128T>G
ENST00000635895.1:c.5142T>G	ENSP00000490323.1:p.Phe1714Leu
ENST00000636012.1:c.5142T>G	ENSP00000490223.1:p.Phe1714Leu
ENST00000636058.1:c.454T>G
ENST00000636389.1:c.5142T>G	ENSP00000489992.1:p.Phe1714Leu
ENST00000636473.1:c.234T>G	ENSP00000490173.1:p.Phe78Leu
ENST00000636549.1:c.5148T>G	ENSP00000490578.1:p.Phe1716Leu
ENST00000637276.1:c.5142T>G	ENSP00000489777.1:p.Phe1714Leu
ENST00000637297.1:c.435T>G	ENSP00000489692.1:p.Phe145Leu
ENST00000637432.1:c.5157T>G	ENSP00000490617.1:p.Phe1719Leu
ENST00000637736.1:c.5001T>G	ENSP00000489861.1:p.Phe1667Leu
ENST00000637769.1:c.5142T>G	ENSP00000489778.1:p.Phe1714Leu
ENST00000637777.1:c.333T>G
ENST00000637809.1:n.532T>G
ENST00000637819.1:c.543T>G	ENSP00000490686.1:p.Phe181Leu
ENST00000637832.1:n.133T>G
ENST00000637927.1:c.5145T>G	ENSP00000489715.1:p.Phe1715Leu
ENST00000638009.2:c.5142T>G	ENSP00000489913.1:p.Phe1714Leu
ENST00000638029.1:c.5157T>G	ENSP00000489829.1:p.Phe1719Leu
ENST00000664864.1:c.5343T>G	ENSP00000499449.1:p.Phe1781Leu
ENST00000360228.9:c.5139T>G	ENSP00000353362.5:p.Phe1713Leu
ENST00000573710.6:c.5142T>G	ENSP00000460092.2:p.Phe1714Leu
ENST00000573891.5:c.558T>G
ENST00000574822.5:n.363T>G
ENST00000585802.5:c.1197T>G	ENSP00000465598.1:p.Phe399Leu
ENST00000587525.5:c.600T>G	ENSP00000467729.1:p.Phe200Leu
ENST00000593267.1:n.344T>G
ENST00000614285.4:c.5157T>G	ENSP00000479983.1:p.Phe1719Leu
NM_000068.3:c.5157T>G	NP_000059.3:p.Phe1719Leu
NM_001127221.1:c.5142T>G , LRG_7t1:c.5142T>G	NP_001120693.1:p.Phe1714Leu
NM_001127222.1:c.5139T>G	NP_001120694.1:p.Phe1713Leu
NM_001174080.1:c.5148T>G	NP_001167551.1:p.Phe1716Leu
NM_023035.2:c.5157T>G	NP_075461.2:p.Phe1719Leu
NM_000068.4:c.5157T>G	NP_000059.3:p.Phe1719Leu
NM_001127222.2:c.5139T>G MANE Select	NP_001120694.1:p.Phe1713Leu
NM_001174080.2:c.5148T>G	NP_001167551.1:p.Phe1716Leu
NM_023035.3:c.5157T>G	NP_075461.2:p.Phe1719Leu
NM_001127221.2:c.5142T>G	NP_001120693.1:p.Phe1714Leu