Canonical Allele Identifier: CA404334459

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13342572T>G (hg19) ; chr19:g.13231758T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231758T>G , CM000681.2:g.13231758T>G	GRCh38
NC_000019.9:g.13342572T>G , CM000681.1:g.13342572T>G	GRCh37
NC_000019.8:g.13203572T>G	NCBI36
NG_011569.1:g.279703A>C , LRG_7:g.279703A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5352A>C MANE Select	ENSP00000353362.5:p.Glu1784Asp
ENST00000573710.7:c.5358A>C	ENSP00000460092.3:p.Glu1786Asp
ENST00000573891.6:c.771A>C
ENST00000574822.6:n.576A>C
ENST00000585802.6:c.513A>C	ENSP00000465598.2:p.Glu171Asp
ENST00000635727.1:c.5355A>C	ENSP00000490001.1:p.Glu1785Asp
ENST00000635742.1:n.1341A>C
ENST00000635895.1:c.5355A>C	ENSP00000490323.1:p.Glu1785Asp
ENST00000636012.1:c.5355A>C	ENSP00000490223.1:p.Glu1785Asp
ENST00000636389.1:c.5355A>C	ENSP00000489992.1:p.Glu1785Asp
ENST00000636473.1:c.447A>C	ENSP00000490173.1:p.Glu149Asp
ENST00000636549.1:c.5361A>C	ENSP00000490578.1:p.Glu1787Asp
ENST00000637276.1:c.5355A>C	ENSP00000489777.1:p.Glu1785Asp
ENST00000637432.1:c.5370A>C	ENSP00000490617.1:p.Glu1790Asp
ENST00000637736.1:c.5214A>C	ENSP00000489861.1:p.Glu1738Asp
ENST00000637769.1:c.5355A>C	ENSP00000489778.1:p.Glu1785Asp
ENST00000637777.1:c.546A>C
ENST00000637809.1:n.745A>C
ENST00000637819.1:c.756A>C	ENSP00000490686.1:p.Glu252Asp
ENST00000637832.1:n.346A>C
ENST00000637927.1:c.5358A>C	ENSP00000489715.1:p.Glu1786Asp
ENST00000638009.2:c.5355A>C	ENSP00000489913.1:p.Glu1785Asp
ENST00000638029.1:c.5370A>C	ENSP00000489829.1:p.Glu1790Asp
ENST00000664864.1:c.5556A>C	ENSP00000499449.1:p.Glu1852Asp
ENST00000360228.9:c.5352A>C	ENSP00000353362.5:p.Glu1784Asp
ENST00000573710.6:c.5355A>C	ENSP00000460092.2:p.Glu1785Asp
ENST00000573891.5:c.771A>C
ENST00000574822.5:n.576A>C
ENST00000585802.5:c.1410A>C	ENSP00000465598.1:p.Glu470Asp
ENST00000587525.5:c.813A>C	ENSP00000467729.1:p.Glu271Asp
ENST00000614285.4:c.5370A>C	ENSP00000479983.1:p.Glu1790Asp
NM_000068.3:c.5370A>C	NP_000059.3:p.Glu1790Asp
NM_001127221.1:c.5355A>C , LRG_7t1:c.5355A>C	NP_001120693.1:p.Glu1785Asp
NM_001127222.1:c.5352A>C	NP_001120694.1:p.Glu1784Asp
NM_001174080.1:c.5361A>C	NP_001167551.1:p.Glu1787Asp
NM_023035.2:c.5370A>C	NP_075461.2:p.Glu1790Asp
NM_000068.4:c.5370A>C	NP_000059.3:p.Glu1790Asp
NM_001127222.2:c.5352A>C MANE Select	NP_001120694.1:p.Glu1784Asp
NM_001174080.2:c.5361A>C	NP_001167551.1:p.Glu1787Asp
NM_023035.3:c.5370A>C	NP_075461.2:p.Glu1790Asp
NM_001127221.2:c.5355A>C	NP_001120693.1:p.Glu1785Asp