Canonical Allele Identifier: CA404340099

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 1006992
• ClinVar RCV Id: RCV001304114
• dbSNP Id: rs2056768399
• MyVariant Identifiers: chr19:g.13373639C>T (hg19) ; chr19:g.13262825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262825C>T , CM000681.2:g.13262825C>T	GRCh38
NC_000019.9:g.13373639C>T , CM000681.1:g.13373639C>T	GRCh37
NC_000019.8:g.13234639C>T	NCBI36
NG_011569.1:g.248636G>A , LRG_7:g.248636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.3998G>A MANE Select	ENSP00000353362.5:p.Ser1333Asn
ENST00000573710.7:c.4004G>A	ENSP00000460092.3:p.Ser1335Asn
ENST00000635727.1:c.4001G>A	ENSP00000490001.1:p.Ser1334Asn
ENST00000635895.1:c.4001G>A	ENSP00000490323.1:p.Ser1334Asn
ENST00000635917.1:n.490G>A
ENST00000636012.1:c.4001G>A	ENSP00000490223.1:p.Ser1334Asn
ENST00000636389.1:c.4001G>A	ENSP00000489992.1:p.Ser1334Asn
ENST00000636549.1:c.4001G>A	ENSP00000490578.1:p.Ser1334Asn
ENST00000636816.1:n.686G>A
ENST00000637004.1:n.464G>A
ENST00000637276.1:c.4001G>A	ENSP00000489777.1:p.Ser1334Asn
ENST00000637432.1:c.4010G>A	ENSP00000490617.1:p.Ser1337Asn
ENST00000637692.1:n.320G>A
ENST00000637736.1:c.3860G>A	ENSP00000489861.1:p.Ser1287Asn
ENST00000637769.1:c.4001G>A	ENSP00000489778.1:p.Ser1334Asn
ENST00000637927.1:c.4004G>A	ENSP00000489715.1:p.Ser1335Asn
ENST00000638009.2:c.4001G>A	ENSP00000489913.1:p.Ser1334Asn
ENST00000638029.1:c.4010G>A	ENSP00000489829.1:p.Ser1337Asn
ENST00000664864.1:c.4196G>A	ENSP00000499449.1:p.Ser1399Asn
ENST00000360228.9:c.3998G>A	ENSP00000353362.5:p.Ser1333Asn
ENST00000573710.6:c.4001G>A	ENSP00000460092.2:p.Ser1334Asn
ENST00000585802.5:c.56G>A	ENSP00000465598.1:p.Ser19Asn
ENST00000590205.1:n.77G>A
ENST00000614285.4:c.4010G>A	ENSP00000479983.1:p.Ser1337Asn
NM_000068.3:c.4010G>A	NP_000059.3:p.Ser1337Asn
NM_001127221.1:c.4001G>A , LRG_7t1:c.4001G>A	NP_001120693.1:p.Ser1334Asn
NM_001127222.1:c.3998G>A	NP_001120694.1:p.Ser1333Asn
NM_001174080.1:c.4001G>A	NP_001167551.1:p.Ser1334Asn
NM_023035.2:c.4010G>A	NP_075461.2:p.Ser1337Asn
NM_000068.4:c.4010G>A	NP_000059.3:p.Ser1337Asn
NM_001127222.2:c.3998G>A MANE Select	NP_001120694.1:p.Ser1333Asn
NM_001174080.2:c.4001G>A	NP_001167551.1:p.Ser1334Asn
NM_023035.3:c.4010G>A	NP_075461.2:p.Ser1337Asn
NM_001127221.2:c.4001G>A	NP_001120693.1:p.Ser1334Asn