Canonical Allele Identifier: CA1365484179
Gene: CACNA1D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801254T= , CM000665.2:g.53801254T= GRCh38
NC_000003.11:g.53835281T= , CM000665.1:g.53835281T= GRCh37
NC_000003.10:g.53810321T= NCBI36
NG_032999.1:g.311206T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5297T= ENSP00000418014.2:p.Ile1766=
ENST00000636633.2:n.2236T=
ENST00000636999.2:n.672T=
ENST00000288139.11:c.5297T= MANE Plus Clinical ENSP00000288139.3:p.Ile1766=
ENST00000350061.11:c.5237T= MANE Select ENSP00000288133.5:p.Ile1746=
ENST00000422281.7:c.5192T= ENSP00000409174.2:p.Ile1731=
ENST00000636448.1:c.1358T=
ENST00000636570.1:c.5192T= ENSP00000490183.1:p.Ile1731=
ENST00000636629.1:n.593T=
ENST00000636633.1:n.2236T=
ENST00000636999.1:n.664T=
ENST00000637424.1:c.5264T= ENSP00000489769.1:p.Ile1755=
ENST00000288139.8:c.5297T= ENSP00000288139.3:p.Ile1766=
ENST00000350061.9:c.5237T= ENSP00000288133.5:p.Ile1746=
ENST00000422281.6:c.5192T= ENSP00000409174.2:p.Ile1731=
ENST00000481478.1:c.4316T= ENSP00000418014.1:p.Ile1439=
NM_000720.3:c.5297T= NP_000711.1:p.Ile1766=
NM_001128839.2:c.5192T= NP_001122311.1:p.Ile1731=
NM_001128840.2:c.5237T= NP_001122312.1:p.Ile1746=
XM_005265448.2:c.5192T= XP_005265505.1:p.Ile1731=
XM_011534094.1:c.5492T= XP_011532396.1:p.Ile1831=
XM_011534095.1:c.5381T= XP_011532397.1:p.Ile1794=
XM_011534096.1:c.5303T= XP_011532398.1:p.Ile1768=
XM_011534097.1:c.4955T= XP_011532399.1:p.Ile1652=
XM_011534098.1:c.4955T= XP_011532400.1:p.Ile1652=
XM_011534099.1:c.4580T= XP_011532401.1:p.Ile1527=
XM_011534100.1:c.5387T= XP_011532402.1:p.Ile1796=
XM_005265448.3:c.5192T= XP_005265505.1:p.Ile1731=
XM_011534094.2:c.5492T= XP_011532396.1:p.Ile1831=
XM_011534096.2:c.5303T= XP_011532398.1:p.Ile1768=
XM_011534097.2:c.4955T= XP_011532399.1:p.Ile1652=
XM_011534099.2:c.4580T= XP_011532401.1:p.Ile1527=
XM_011534100.2:c.5387T= XP_011532402.1:p.Ile1796=
XM_017007137.1:c.5492T= XP_016862626.1:p.Ile1831=
XM_017007138.1:c.5489T= XP_016862627.1:p.Ile1830=
XM_017007139.1:c.5492T= XP_016862628.1:p.Ile1831=
XM_017007140.1:c.5432T= XP_016862629.1:p.Ile1811=
XM_017007141.1:c.5432T= XP_016862630.1:p.Ile1811=
XM_017007142.1:c.5408T= XP_016862631.1:p.Ile1803=
XM_017007143.1:c.5408T= XP_016862632.1:p.Ile1803=
XM_017007144.1:c.5408T= XP_016862633.1:p.Ile1803=
XM_017007145.1:c.5363T= XP_016862634.1:p.Ile1788=
NM_001128840.3:c.5237T= MANE Select NP_001122312.1:p.Ile1746=
NM_000720.4:c.5297T= MANE Plus Clinical NP_000711.1:p.Ile1766=
NM_001128839.3:c.5192T= NP_001122311.1:p.Ile1731=