Canonical Allele Identifier: CA9239860

Gene: CACNA1A

Linked Data

• dbSNP Id: rs756855466
• ExAC: 19:13346529 G / A
• gnomAD v2: 19-13346529-G-A
• gnomAD v4: 19-13235715-G-A
• MyVariant Identifiers: chr19:g.13346529G>A (hg19) ; chr19:g.13235715G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235715G>A , CM000681.2:g.13235715G>A	GRCh38
NC_000019.9:g.13346529G>A , CM000681.1:g.13346529G>A	GRCh37
NC_000019.8:g.13207529G>A	NCBI36
NG_011569.1:g.275746C>T , LRG_7:g.275746C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4966C>T MANE Select	ENSP00000353362.5:p.Leu1656=
ENST00000573710.7:c.4972C>T	ENSP00000460092.3:p.Leu1658=
ENST00000573891.6:c.385C>T
ENST00000574822.6:n.190C>T
ENST00000585802.6:c.127C>T	ENSP00000465598.2:p.Leu43=
ENST00000593267.2:n.171C>T
ENST00000635727.1:c.4969C>T	ENSP00000490001.1:p.Leu1657=
ENST00000635742.1:n.955C>T
ENST00000635895.1:c.4969C>T	ENSP00000490323.1:p.Leu1657=
ENST00000636012.1:c.4969C>T	ENSP00000490223.1:p.Leu1657=
ENST00000636058.1:c.281C>T
ENST00000636389.1:c.4969C>T	ENSP00000489992.1:p.Leu1657=
ENST00000636473.1:c.127C>T	ENSP00000490173.1:p.Leu43=
ENST00000636549.1:c.4975C>T	ENSP00000490578.1:p.Leu1659=
ENST00000637276.1:c.4969C>T	ENSP00000489777.1:p.Leu1657=
ENST00000637297.1:c.262C>T	ENSP00000489692.1:p.Leu88=
ENST00000637432.1:c.4984C>T	ENSP00000490617.1:p.Leu1662=
ENST00000637736.1:c.4828C>T	ENSP00000489861.1:p.Leu1610=
ENST00000637769.1:c.4969C>T	ENSP00000489778.1:p.Leu1657=
ENST00000637777.1:c.226C>T
ENST00000637809.1:n.359C>T
ENST00000637819.1:c.370C>T	ENSP00000490686.1:p.Leu124=
ENST00000637927.1:c.4972C>T	ENSP00000489715.1:p.Leu1658=
ENST00000638009.2:c.4969C>T	ENSP00000489913.1:p.Leu1657=
ENST00000638029.1:c.4984C>T	ENSP00000489829.1:p.Leu1662=
ENST00000664864.1:c.5170C>T	ENSP00000499449.1:p.Leu1724=
ENST00000360228.9:c.4966C>T	ENSP00000353362.5:p.Leu1656=
ENST00000573710.6:c.4969C>T	ENSP00000460092.2:p.Leu1657=
ENST00000573891.5:c.385C>T
ENST00000574822.5:n.190C>T
ENST00000585802.5:c.1024C>T	ENSP00000465598.1:p.Leu342=
ENST00000587525.5:c.427C>T	ENSP00000467729.1:p.Leu143=
ENST00000593267.1:n.171C>T
ENST00000614285.4:c.4984C>T	ENSP00000479983.1:p.Leu1662=
NM_000068.3:c.4984C>T	NP_000059.3:p.Leu1662=
NM_001127221.1:c.4969C>T , LRG_7t1:c.4969C>T	NP_001120693.1:p.Leu1657=
NM_001127222.1:c.4966C>T	NP_001120694.1:p.Leu1656=
NM_001174080.1:c.4975C>T	NP_001167551.1:p.Leu1659=
NM_023035.2:c.4984C>T	NP_075461.2:p.Leu1662=
NM_000068.4:c.4984C>T	NP_000059.3:p.Leu1662=
NM_001127222.2:c.4966C>T MANE Select	NP_001120694.1:p.Leu1656=
NM_001174080.2:c.4975C>T	NP_001167551.1:p.Leu1659=
NM_023035.3:c.4984C>T	NP_075461.2:p.Leu1662=
NM_001127221.2:c.4969C>T	NP_001120693.1:p.Leu1657=