Canonical Allele Identifier: CA505658770

Gene: CACNA1A

Linked Data

• dbSNP Id: rs1206765131
• gnomAD v3: 19-13235656-G-A
• gnomAD v4: 19-13235656-G-A
• MyVariant Identifiers: chr19:g.13346470G>A (hg19) ; chr19:g.13235656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235656G>A , CM000681.2:g.13235656G>A	GRCh38
NC_000019.9:g.13346470G>A , CM000681.1:g.13346470G>A	GRCh37
NC_000019.8:g.13207470G>A	NCBI36
NG_011569.1:g.275805C>T , LRG_7:g.275805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5025C>T MANE Select	ENSP00000353362.5:p.Tyr1675=
ENST00000573710.7:c.5031C>T	ENSP00000460092.3:p.Tyr1677=
ENST00000573891.6:c.444C>T
ENST00000574822.6:n.249C>T
ENST00000585802.6:c.186C>T	ENSP00000465598.2:p.Tyr62=
ENST00000593267.2:n.230C>T
ENST00000635727.1:c.5028C>T	ENSP00000490001.1:p.Tyr1676=
ENST00000635742.1:n.1014C>T
ENST00000635895.1:c.5028C>T	ENSP00000490323.1:p.Tyr1676=
ENST00000636012.1:c.5028C>T	ENSP00000490223.1:p.Tyr1676=
ENST00000636058.1:c.340C>T
ENST00000636389.1:c.5028C>T	ENSP00000489992.1:p.Tyr1676=
ENST00000636473.1:c.186C>T	ENSP00000490173.1:p.Tyr62=
ENST00000636549.1:c.5034C>T	ENSP00000490578.1:p.Tyr1678=
ENST00000637276.1:c.5028C>T	ENSP00000489777.1:p.Tyr1676=
ENST00000637297.1:c.321C>T	ENSP00000489692.1:p.Tyr107=
ENST00000637432.1:c.5043C>T	ENSP00000490617.1:p.Tyr1681=
ENST00000637736.1:c.4887C>T	ENSP00000489861.1:p.Tyr1629=
ENST00000637769.1:c.5028C>T	ENSP00000489778.1:p.Tyr1676=
ENST00000637777.1:c.285C>T
ENST00000637809.1:n.418C>T
ENST00000637819.1:c.429C>T	ENSP00000490686.1:p.Tyr143=
ENST00000637832.1:n.19C>T
ENST00000637927.1:c.5031C>T	ENSP00000489715.1:p.Tyr1677=
ENST00000638009.2:c.5028C>T	ENSP00000489913.1:p.Tyr1676=
ENST00000638029.1:c.5043C>T	ENSP00000489829.1:p.Tyr1681=
ENST00000664864.1:c.5229C>T	ENSP00000499449.1:p.Tyr1743=
ENST00000360228.9:c.5025C>T	ENSP00000353362.5:p.Tyr1675=
ENST00000573710.6:c.5028C>T	ENSP00000460092.2:p.Tyr1676=
ENST00000573891.5:c.444C>T
ENST00000574822.5:n.249C>T
ENST00000585802.5:c.1083C>T	ENSP00000465598.1:p.Tyr361=
ENST00000587525.5:c.486C>T	ENSP00000467729.1:p.Tyr162=
ENST00000593267.1:n.230C>T
ENST00000614285.4:c.5043C>T	ENSP00000479983.1:p.Tyr1681=
NM_000068.3:c.5043C>T	NP_000059.3:p.Tyr1681=
NM_001127221.1:c.5028C>T , LRG_7t1:c.5028C>T	NP_001120693.1:p.Tyr1676=
NM_001127222.1:c.5025C>T	NP_001120694.1:p.Tyr1675=
NM_001174080.1:c.5034C>T	NP_001167551.1:p.Tyr1678=
NM_023035.2:c.5043C>T	NP_075461.2:p.Tyr1681=
NM_000068.4:c.5043C>T	NP_000059.3:p.Tyr1681=
NM_001127222.2:c.5025C>T MANE Select	NP_001120694.1:p.Tyr1675=
NM_001174080.2:c.5034C>T	NP_001167551.1:p.Tyr1678=
NM_023035.3:c.5043C>T	NP_075461.2:p.Tyr1681=
NM_001127221.2:c.5028C>T	NP_001120693.1:p.Tyr1676=