Canonical Allele Identifier: CA1365484208
Gene: CACNA1D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801331C= , CM000665.2:g.53801331C= GRCh38
NC_000003.11:g.53835358C= , CM000665.1:g.53835358C= GRCh37
NC_000003.10:g.53810398C= NCBI36
NG_032999.1:g.311283C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5374C= ENSP00000418014.2:p.Pro1792=
ENST00000636633.2:n.2313C=
ENST00000636999.2:n.749C=
ENST00000288139.11:c.5374C= MANE Plus Clinical ENSP00000288139.3:p.Pro1792=
ENST00000350061.11:c.5314C= MANE Select ENSP00000288133.5:p.Pro1772=
ENST00000422281.7:c.5269C= ENSP00000409174.2:p.Pro1757=
ENST00000636448.1:c.1435C=
ENST00000636570.1:c.5269C= ENSP00000490183.1:p.Pro1757=
ENST00000636629.1:n.670C=
ENST00000636633.1:n.2313C=
ENST00000636999.1:n.741C=
ENST00000637424.1:c.5341C= ENSP00000489769.1:p.Pro1781=
ENST00000637844.1:n.68C=
ENST00000288139.8:c.5374C= ENSP00000288139.3:p.Pro1792=
ENST00000350061.9:c.5314C= ENSP00000288133.5:p.Pro1772=
ENST00000422281.6:c.5269C= ENSP00000409174.2:p.Pro1757=
ENST00000481478.1:c.4393C= ENSP00000418014.1:p.Pro1465=
NM_000720.3:c.5374C= NP_000711.1:p.Pro1792=
NM_001128839.2:c.5269C= NP_001122311.1:p.Pro1757=
NM_001128840.2:c.5314C= NP_001122312.1:p.Pro1772=
XM_005265448.2:c.5269C= XP_005265505.1:p.Pro1757=
XM_011534094.1:c.5569C= XP_011532396.1:p.Pro1857=
XM_011534095.1:c.5458C= XP_011532397.1:p.Pro1820=
XM_011534096.1:c.5380C= XP_011532398.1:p.Pro1794=
XM_011534097.1:c.5032C= XP_011532399.1:p.Pro1678=
XM_011534098.1:c.5032C= XP_011532400.1:p.Pro1678=
XM_011534099.1:c.4657C= XP_011532401.1:p.Pro1553=
XM_011534100.1:c.5464C= XP_011532402.1:p.Pro1822=
XM_005265448.3:c.5269C= XP_005265505.1:p.Pro1757=
XM_011534094.2:c.5569C= XP_011532396.1:p.Pro1857=
XM_011534096.2:c.5380C= XP_011532398.1:p.Pro1794=
XM_011534097.2:c.5032C= XP_011532399.1:p.Pro1678=
XM_011534099.2:c.4657C= XP_011532401.1:p.Pro1553=
XM_011534100.2:c.5464C= XP_011532402.1:p.Pro1822=
XM_017007137.1:c.5569C= XP_016862626.1:p.Pro1857=
XM_017007138.1:c.5566C= XP_016862627.1:p.Pro1856=
XM_017007139.1:c.5569C= XP_016862628.1:p.Pro1857=
XM_017007140.1:c.5509C= XP_016862629.1:p.Pro1837=
XM_017007141.1:c.5509C= XP_016862630.1:p.Pro1837=
XM_017007142.1:c.5485C= XP_016862631.1:p.Pro1829=
XM_017007143.1:c.5485C= XP_016862632.1:p.Pro1829=
XM_017007144.1:c.5485C= XP_016862633.1:p.Pro1829=
XM_017007145.1:c.5440C= XP_016862634.1:p.Pro1814=
NM_001128840.3:c.5314C= MANE Select NP_001122312.1:p.Pro1772=
NM_000720.4:c.5374C= MANE Plus Clinical NP_000711.1:p.Pro1792=
NM_001128839.3:c.5269C= NP_001122311.1:p.Pro1757=