Canonical Allele Identifier: CA404339676

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13372327T>G (hg19) ; chr19:g.13261513T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13261513T>G , CM000681.2:g.13261513T>G	GRCh38
NC_000019.9:g.13372327T>G , CM000681.1:g.13372327T>G	GRCh37
NC_000019.8:g.13233327T>G	NCBI36
NG_011569.1:g.249948A>C , LRG_7:g.249948A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4187A>C MANE Select	ENSP00000353362.5:p.Gln1396Pro
ENST00000573710.7:c.4193A>C	ENSP00000460092.3:p.Gln1398Pro
ENST00000590205.2:n.1193A>C
ENST00000635727.1:c.4190A>C	ENSP00000490001.1:p.Gln1397Pro
ENST00000635742.1:n.176A>C
ENST00000635895.1:c.4190A>C	ENSP00000490323.1:p.Gln1397Pro
ENST00000635917.1:n.679A>C
ENST00000636012.1:c.4190A>C	ENSP00000490223.1:p.Gln1397Pro
ENST00000636389.1:c.4190A>C	ENSP00000489992.1:p.Gln1397Pro
ENST00000636549.1:c.4190A>C	ENSP00000490578.1:p.Gln1397Pro
ENST00000636816.1:n.875A>C
ENST00000637004.1:n.653A>C
ENST00000637276.1:c.4190A>C	ENSP00000489777.1:p.Gln1397Pro
ENST00000637432.1:c.4199A>C	ENSP00000490617.1:p.Gln1400Pro
ENST00000637692.1:n.509A>C
ENST00000637736.1:c.4049A>C	ENSP00000489861.1:p.Gln1350Pro
ENST00000637769.1:c.4190A>C	ENSP00000489778.1:p.Gln1397Pro
ENST00000637927.1:c.4193A>C	ENSP00000489715.1:p.Gln1398Pro
ENST00000638009.2:c.4190A>C	ENSP00000489913.1:p.Gln1397Pro
ENST00000638029.1:c.4199A>C	ENSP00000489829.1:p.Gln1400Pro
ENST00000664864.1:c.4385A>C	ENSP00000499449.1:p.Gln1462Pro
ENST00000360228.9:c.4187A>C	ENSP00000353362.5:p.Gln1396Pro
ENST00000573710.6:c.4190A>C	ENSP00000460092.2:p.Gln1397Pro
ENST00000585802.5:c.245A>C	ENSP00000465598.1:p.Gln82Pro
ENST00000590205.1:n.266A>C
ENST00000614285.4:c.4199A>C	ENSP00000479983.1:p.Gln1400Pro
NM_000068.3:c.4199A>C	NP_000059.3:p.Gln1400Pro
NM_001127221.1:c.4190A>C , LRG_7t1:c.4190A>C	NP_001120693.1:p.Gln1397Pro
NM_001127222.1:c.4187A>C	NP_001120694.1:p.Gln1396Pro
NM_001174080.1:c.4190A>C	NP_001167551.1:p.Gln1397Pro
NM_023035.2:c.4199A>C	NP_075461.2:p.Gln1400Pro
NM_000068.4:c.4199A>C	NP_000059.3:p.Gln1400Pro
NM_001127222.2:c.4187A>C MANE Select	NP_001120694.1:p.Gln1396Pro
NM_001174080.2:c.4190A>C	NP_001167551.1:p.Gln1397Pro
NM_023035.3:c.4199A>C	NP_075461.2:p.Gln1400Pro
NM_001127221.2:c.4190A>C	NP_001120693.1:p.Gln1397Pro