Canonical Allele Identifier: CA404336594

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13346443A>T (hg19) ; chr19:g.13235629A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235629A>T , CM000681.2:g.13235629A>T	GRCh38
NC_000019.9:g.13346443A>T , CM000681.1:g.13346443A>T	GRCh37
NC_000019.8:g.13207443A>T	NCBI36
NG_011569.1:g.275832T>A , LRG_7:g.275832T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5052T>A MANE Select	ENSP00000353362.5:p.Phe1684Leu
ENST00000573710.7:c.5058T>A	ENSP00000460092.3:p.Phe1686Leu
ENST00000573891.6:c.471T>A
ENST00000574822.6:n.276T>A
ENST00000585802.6:c.213T>A	ENSP00000465598.2:p.Phe71Leu
ENST00000593267.2:n.257T>A
ENST00000635727.1:c.5055T>A	ENSP00000490001.1:p.Phe1685Leu
ENST00000635742.1:n.1041T>A
ENST00000635895.1:c.5055T>A	ENSP00000490323.1:p.Phe1685Leu
ENST00000636012.1:c.5055T>A	ENSP00000490223.1:p.Phe1685Leu
ENST00000636058.1:c.367T>A
ENST00000636389.1:c.5055T>A	ENSP00000489992.1:p.Phe1685Leu
ENST00000636473.1:c.213T>A	ENSP00000490173.1:p.Phe71Leu
ENST00000636549.1:c.5061T>A	ENSP00000490578.1:p.Phe1687Leu
ENST00000637276.1:c.5055T>A	ENSP00000489777.1:p.Phe1685Leu
ENST00000637297.1:c.348T>A	ENSP00000489692.1:p.Phe116Leu
ENST00000637432.1:c.5070T>A	ENSP00000490617.1:p.Phe1690Leu
ENST00000637736.1:c.4914T>A	ENSP00000489861.1:p.Phe1638Leu
ENST00000637769.1:c.5055T>A	ENSP00000489778.1:p.Phe1685Leu
ENST00000637777.1:c.312T>A
ENST00000637809.1:n.445T>A
ENST00000637819.1:c.456T>A	ENSP00000490686.1:p.Phe152Leu
ENST00000637832.1:n.46T>A
ENST00000637927.1:c.5058T>A	ENSP00000489715.1:p.Phe1686Leu
ENST00000638009.2:c.5055T>A	ENSP00000489913.1:p.Phe1685Leu
ENST00000638029.1:c.5070T>A	ENSP00000489829.1:p.Phe1690Leu
ENST00000664864.1:c.5256T>A	ENSP00000499449.1:p.Phe1752Leu
ENST00000360228.9:c.5052T>A	ENSP00000353362.5:p.Phe1684Leu
ENST00000573710.6:c.5055T>A	ENSP00000460092.2:p.Phe1685Leu
ENST00000573891.5:c.471T>A
ENST00000574822.5:n.276T>A
ENST00000585802.5:c.1110T>A	ENSP00000465598.1:p.Phe370Leu
ENST00000587525.5:c.513T>A	ENSP00000467729.1:p.Phe171Leu
ENST00000593267.1:n.257T>A
ENST00000614285.4:c.5070T>A	ENSP00000479983.1:p.Phe1690Leu
NM_000068.3:c.5070T>A	NP_000059.3:p.Phe1690Leu
NM_001127221.1:c.5055T>A , LRG_7t1:c.5055T>A	NP_001120693.1:p.Phe1685Leu
NM_001127222.1:c.5052T>A	NP_001120694.1:p.Phe1684Leu
NM_001174080.1:c.5061T>A	NP_001167551.1:p.Phe1687Leu
NM_023035.2:c.5070T>A	NP_075461.2:p.Phe1690Leu
NM_000068.4:c.5070T>A	NP_000059.3:p.Phe1690Leu
NM_001127222.2:c.5052T>A MANE Select	NP_001120694.1:p.Phe1684Leu
NM_001174080.2:c.5061T>A	NP_001167551.1:p.Phe1687Leu
NM_023035.3:c.5070T>A	NP_075461.2:p.Phe1690Leu
NM_001127221.2:c.5055T>A	NP_001120693.1:p.Phe1685Leu