Canonical Allele Identifier: CA9239519

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 373509
• ClinVar RCV Id: RCV000413632 ; RCV000727526 ; RCV000791501 ; RCV002275037 ; RCV002524653
• dbSNP Id: rs745775887
• ExAC: 19:13323550 C / T
• gnomAD v2: 19-13323550-C-T
• gnomAD v3: 19-13212736-C-T
• gnomAD v4: 19-13212736-C-T
• MyVariant Identifiers: chr19:g.13323550C>T (hg19) ; chr19:g.13212736C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13212736C>T , CM000681.2:g.13212736C>T	GRCh38
NC_000019.9:g.13323550C>T , CM000681.1:g.13323550C>T	GRCh37
NC_000019.8:g.13184550C>T	NCBI36
NG_011569.1:g.298725G>A , LRG_7:g.298725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5945G>A MANE Select	ENSP00000353362.5:p.Arg1982Gln
ENST00000573710.7:c.5951G>A	ENSP00000460092.3:p.Arg1984Gln
ENST00000585802.6:c.1106G>A	ENSP00000465598.2:p.Arg369Gln
ENST00000635727.1:c.5948G>A	ENSP00000490001.1:p.Arg1983Gln
ENST00000635895.1:c.5948G>A	ENSP00000490323.1:p.Arg1983Gln
ENST00000636012.1:c.5948G>A	ENSP00000490223.1:p.Arg1983Gln
ENST00000636389.1:c.5948G>A	ENSP00000489992.1:p.Arg1983Gln
ENST00000636473.1:c.815G>A	ENSP00000490173.1:p.Arg272Gln
ENST00000636549.1:c.5954G>A	ENSP00000490578.1:p.Arg1985Gln
ENST00000636610.1:n.862G>A
ENST00000636768.1:c.475G>A	ENSP00000490190.1:n.475G>A
ENST00000637276.1:c.5948G>A	ENSP00000489777.1:p.Arg1983Gln
ENST00000637432.1:c.5963G>A	ENSP00000490617.1:p.Arg1988Gln
ENST00000637736.1:c.5807G>A	ENSP00000489861.1:p.Arg1936Gln
ENST00000637769.1:c.5948G>A	ENSP00000489778.1:p.Arg1983Gln
ENST00000637819.1:c.1349G>A	ENSP00000490686.1:p.Arg450Gln
ENST00000637927.1:c.5951G>A	ENSP00000489715.1:p.Arg1984Gln
ENST00000638009.2:c.5948G>A	ENSP00000489913.1:p.Arg1983Gln
ENST00000638029.1:c.5963G>A	ENSP00000489829.1:p.Arg1988Gln
ENST00000664864.1:c.6149G>A	ENSP00000499449.1:p.Arg2050Gln
ENST00000360228.9:c.5945G>A	ENSP00000353362.5:p.Arg1982Gln
ENST00000573710.6:c.5948G>A	ENSP00000460092.2:p.Arg1983Gln
ENST00000585802.5:c.2003G>A	ENSP00000465598.1:p.Arg668Gln
ENST00000587525.5:c.1406G>A	ENSP00000467729.1:p.Arg469Gln
ENST00000614285.4:c.5963G>A	ENSP00000479983.1:p.Arg1988Gln
NM_000068.3:c.5963G>A	NP_000059.3:p.Arg1988Gln
NM_001127221.1:c.5948G>A , LRG_7t1:c.5948G>A	NP_001120693.1:p.Arg1983Gln
NM_001127222.1:c.5945G>A	NP_001120694.1:p.Arg1982Gln
NM_001174080.1:c.5954G>A	NP_001167551.1:p.Arg1985Gln
NM_023035.2:c.5963G>A	NP_075461.2:p.Arg1988Gln
NM_000068.4:c.5963G>A	NP_000059.3:p.Arg1988Gln
NM_001127222.2:c.5945G>A MANE Select	NP_001120694.1:p.Arg1982Gln
NM_001174080.2:c.5954G>A	NP_001167551.1:p.Arg1985Gln
NM_023035.3:c.5963G>A	NP_075461.2:p.Arg1988Gln
NM_001127221.2:c.5948G>A	NP_001120693.1:p.Arg1983Gln