Canonical Allele Identifier: CA404334934

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13342667T>A (hg19) ; chr19:g.13231853T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231853T>A , CM000681.2:g.13231853T>A	GRCh38
NC_000019.9:g.13342667T>A , CM000681.1:g.13342667T>A	GRCh37
NC_000019.8:g.13203667T>A	NCBI36
NG_011569.1:g.279608A>T , LRG_7:g.279608A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5257A>T MANE Select	ENSP00000353362.5:p.Thr1753Ser
ENST00000573710.7:c.5263A>T	ENSP00000460092.3:p.Thr1755Ser
ENST00000573891.6:c.676A>T
ENST00000574822.6:n.481A>T
ENST00000585802.6:c.418A>T	ENSP00000465598.2:p.Thr140Ser
ENST00000635727.1:c.5260A>T	ENSP00000490001.1:p.Thr1754Ser
ENST00000635742.1:n.1246A>T
ENST00000635895.1:c.5260A>T	ENSP00000490323.1:p.Thr1754Ser
ENST00000636012.1:c.5260A>T	ENSP00000490223.1:p.Thr1754Ser
ENST00000636058.1:c.572A>T
ENST00000636389.1:c.5260A>T	ENSP00000489992.1:p.Thr1754Ser
ENST00000636473.1:c.352A>T	ENSP00000490173.1:p.Thr118Ser
ENST00000636549.1:c.5266A>T	ENSP00000490578.1:p.Thr1756Ser
ENST00000637276.1:c.5260A>T	ENSP00000489777.1:p.Thr1754Ser
ENST00000637297.1:c.553A>T	ENSP00000489692.1:p.Thr185Ser
ENST00000637432.1:c.5275A>T	ENSP00000490617.1:p.Thr1759Ser
ENST00000637736.1:c.5119A>T	ENSP00000489861.1:p.Thr1707Ser
ENST00000637769.1:c.5260A>T	ENSP00000489778.1:p.Thr1754Ser
ENST00000637777.1:c.451A>T
ENST00000637809.1:n.650A>T
ENST00000637819.1:c.661A>T	ENSP00000490686.1:p.Thr221Ser
ENST00000637832.1:n.251A>T
ENST00000637927.1:c.5263A>T	ENSP00000489715.1:p.Thr1755Ser
ENST00000638009.2:c.5260A>T	ENSP00000489913.1:p.Thr1754Ser
ENST00000638029.1:c.5275A>T	ENSP00000489829.1:p.Thr1759Ser
ENST00000664864.1:c.5461A>T	ENSP00000499449.1:p.Thr1821Ser
ENST00000360228.9:c.5257A>T	ENSP00000353362.5:p.Thr1753Ser
ENST00000573710.6:c.5260A>T	ENSP00000460092.2:p.Thr1754Ser
ENST00000573891.5:c.676A>T
ENST00000574822.5:n.481A>T
ENST00000585802.5:c.1315A>T	ENSP00000465598.1:p.Thr439Ser
ENST00000587525.5:c.718A>T	ENSP00000467729.1:p.Thr240Ser
ENST00000614285.4:c.5275A>T	ENSP00000479983.1:p.Thr1759Ser
NM_000068.3:c.5275A>T	NP_000059.3:p.Thr1759Ser
NM_001127221.1:c.5260A>T , LRG_7t1:c.5260A>T	NP_001120693.1:p.Thr1754Ser
NM_001127222.1:c.5257A>T	NP_001120694.1:p.Thr1753Ser
NM_001174080.1:c.5266A>T	NP_001167551.1:p.Thr1756Ser
NM_023035.2:c.5275A>T	NP_075461.2:p.Thr1759Ser
NM_000068.4:c.5275A>T	NP_000059.3:p.Thr1759Ser
NM_001127222.2:c.5257A>T MANE Select	NP_001120694.1:p.Thr1753Ser
NM_001174080.2:c.5266A>T	NP_001167551.1:p.Thr1756Ser
NM_023035.3:c.5275A>T	NP_075461.2:p.Thr1759Ser
NM_001127221.2:c.5260A>T	NP_001120693.1:p.Thr1754Ser