Canonical Allele Identifier: CA404335800

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13235211-G-A
• COSMIC: COSM3989724 ; COSM3989725 ; COSM3989726 ; COSM3989727
• MyVariant Identifiers: chr19:g.13346025G>A (hg19) ; chr19:g.13235211G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235211G>A , CM000681.2:g.13235211G>A	GRCh38
NC_000019.9:g.13346025G>A , CM000681.1:g.13346025G>A	GRCh37
NC_000019.8:g.13207025G>A	NCBI36
NG_011569.1:g.276250C>T , LRG_7:g.276250C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5131C>T MANE Select	ENSP00000353362.5:p.Gln1711Ter
ENST00000573710.7:c.5137C>T	ENSP00000460092.3:p.Gln1713Ter
ENST00000573891.6:c.550C>T
ENST00000574822.6:n.355C>T
ENST00000585802.6:c.292C>T	ENSP00000465598.2:p.Gln98Ter
ENST00000593267.2:n.336C>T
ENST00000635727.1:c.5134C>T	ENSP00000490001.1:p.Gln1712Ter
ENST00000635742.1:n.1120C>T
ENST00000635895.1:c.5134C>T	ENSP00000490323.1:p.Gln1712Ter
ENST00000636012.1:c.5134C>T	ENSP00000490223.1:p.Gln1712Ter
ENST00000636058.1:c.446C>T
ENST00000636389.1:c.5134C>T	ENSP00000489992.1:p.Gln1712Ter
ENST00000636473.1:c.229-175C>T	ENSP00000490173.1:n.229-175C>T
ENST00000636549.1:c.5140C>T	ENSP00000490578.1:p.Gln1714Ter
ENST00000637276.1:c.5134C>T	ENSP00000489777.1:p.Gln1712Ter
ENST00000637297.1:c.427C>T	ENSP00000489692.1:p.Gln143Ter
ENST00000637432.1:c.5149C>T	ENSP00000490617.1:p.Gln1717Ter
ENST00000637736.1:c.4993C>T	ENSP00000489861.1:p.Gln1665Ter
ENST00000637769.1:c.5134C>T	ENSP00000489778.1:p.Gln1712Ter
ENST00000637777.1:c.328-175C>T
ENST00000637809.1:n.524C>T
ENST00000637819.1:c.535C>T	ENSP00000490686.1:p.Gln179Ter
ENST00000637832.1:n.125C>T
ENST00000637927.1:c.5137C>T	ENSP00000489715.1:p.Gln1713Ter
ENST00000638009.2:c.5134C>T	ENSP00000489913.1:p.Gln1712Ter
ENST00000638029.1:c.5149C>T	ENSP00000489829.1:p.Gln1717Ter
ENST00000664864.1:c.5335C>T	ENSP00000499449.1:p.Gln1779Ter
ENST00000360228.9:c.5131C>T	ENSP00000353362.5:p.Gln1711Ter
ENST00000573710.6:c.5134C>T	ENSP00000460092.2:p.Gln1712Ter
ENST00000573891.5:c.550C>T
ENST00000574822.5:n.355C>T
ENST00000585802.5:c.1189C>T	ENSP00000465598.1:p.Gln397Ter
ENST00000587525.5:c.592C>T	ENSP00000467729.1:p.Gln198Ter
ENST00000593267.1:n.336C>T
ENST00000614285.4:c.5149C>T	ENSP00000479983.1:p.Gln1717Ter
NM_000068.3:c.5149C>T	NP_000059.3:p.Gln1717Ter
NM_001127221.1:c.5134C>T , LRG_7t1:c.5134C>T	NP_001120693.1:p.Gln1712Ter
NM_001127222.1:c.5131C>T	NP_001120694.1:p.Gln1711Ter
NM_001174080.1:c.5140C>T	NP_001167551.1:p.Gln1714Ter
NM_023035.2:c.5149C>T	NP_075461.2:p.Gln1717Ter
NM_000068.4:c.5149C>T	NP_000059.3:p.Gln1717Ter
NM_001127222.2:c.5131C>T MANE Select	NP_001120694.1:p.Gln1711Ter
NM_001174080.2:c.5140C>T	NP_001167551.1:p.Gln1714Ter
NM_023035.3:c.5149C>T	NP_075461.2:p.Gln1717Ter
NM_001127221.2:c.5134C>T	NP_001120693.1:p.Gln1712Ter