Canonical Allele Identifier: CA404337067

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 2011587
• ClinVar RCV Id: RCV002851309
• MyVariant Identifiers: chr19:g.13346525C>A (hg19) ; chr19:g.13235711C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235711C>A , CM000681.2:g.13235711C>A	GRCh38
NC_000019.9:g.13346525C>A , CM000681.1:g.13346525C>A	GRCh37
NC_000019.8:g.13207525C>A	NCBI36
NG_011569.1:g.275750G>T , LRG_7:g.275750G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4970G>T MANE Select	ENSP00000353362.5:p.Ser1657Ile
ENST00000573710.7:c.4976G>T	ENSP00000460092.3:p.Ser1659Ile
ENST00000573891.6:c.389G>T
ENST00000574822.6:n.194G>T
ENST00000585802.6:c.131G>T	ENSP00000465598.2:p.Ser44Ile
ENST00000593267.2:n.175G>T
ENST00000635727.1:c.4973G>T	ENSP00000490001.1:p.Ser1658Ile
ENST00000635742.1:n.959G>T
ENST00000635895.1:c.4973G>T	ENSP00000490323.1:p.Ser1658Ile
ENST00000636012.1:c.4973G>T	ENSP00000490223.1:p.Ser1658Ile
ENST00000636058.1:c.285G>T
ENST00000636389.1:c.4973G>T	ENSP00000489992.1:p.Ser1658Ile
ENST00000636473.1:c.131G>T	ENSP00000490173.1:p.Ser44Ile
ENST00000636549.1:c.4979G>T	ENSP00000490578.1:p.Ser1660Ile
ENST00000637276.1:c.4973G>T	ENSP00000489777.1:p.Ser1658Ile
ENST00000637297.1:c.266G>T	ENSP00000489692.1:p.Ser89Ile
ENST00000637432.1:c.4988G>T	ENSP00000490617.1:p.Ser1663Ile
ENST00000637736.1:c.4832G>T	ENSP00000489861.1:p.Ser1611Ile
ENST00000637769.1:c.4973G>T	ENSP00000489778.1:p.Ser1658Ile
ENST00000637777.1:c.230G>T
ENST00000637809.1:n.363G>T
ENST00000637819.1:c.374G>T	ENSP00000490686.1:p.Ser125Ile
ENST00000637927.1:c.4976G>T	ENSP00000489715.1:p.Ser1659Ile
ENST00000638009.2:c.4973G>T	ENSP00000489913.1:p.Ser1658Ile
ENST00000638029.1:c.4988G>T	ENSP00000489829.1:p.Ser1663Ile
ENST00000664864.1:c.5174G>T	ENSP00000499449.1:p.Ser1725Ile
ENST00000360228.9:c.4970G>T	ENSP00000353362.5:p.Ser1657Ile
ENST00000573710.6:c.4973G>T	ENSP00000460092.2:p.Ser1658Ile
ENST00000573891.5:c.389G>T
ENST00000574822.5:n.194G>T
ENST00000585802.5:c.1028G>T	ENSP00000465598.1:p.Ser343Ile
ENST00000587525.5:c.431G>T	ENSP00000467729.1:p.Ser144Ile
ENST00000593267.1:n.175G>T
ENST00000614285.4:c.4988G>T	ENSP00000479983.1:p.Ser1663Ile
NM_000068.3:c.4988G>T	NP_000059.3:p.Ser1663Ile
NM_001127221.1:c.4973G>T , LRG_7t1:c.4973G>T	NP_001120693.1:p.Ser1658Ile
NM_001127222.1:c.4970G>T	NP_001120694.1:p.Ser1657Ile
NM_001174080.1:c.4979G>T	NP_001167551.1:p.Ser1660Ile
NM_023035.2:c.4988G>T	NP_075461.2:p.Ser1663Ile
NM_000068.4:c.4988G>T	NP_000059.3:p.Ser1663Ile
NM_001127222.2:c.4970G>T MANE Select	NP_001120694.1:p.Ser1657Ile
NM_001174080.2:c.4979G>T	NP_001167551.1:p.Ser1660Ile
NM_023035.3:c.4988G>T	NP_075461.2:p.Ser1663Ile
NM_001127221.2:c.4973G>T	NP_001120693.1:p.Ser1658Ile