Canonical Allele Identifier: CA1365484235
Gene: CACNA1D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801416G= , CM000665.2:g.53801416G= GRCh38
NC_000003.11:g.53835443G= , CM000665.1:g.53835443G= GRCh37
NC_000003.10:g.53810483G= NCBI36
NG_032999.1:g.311368G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5459G= ENSP00000418014.2:p.Ser1820=
ENST00000636633.2:n.2398G=
ENST00000636999.2:n.834G=
ENST00000288139.11:c.5459G= MANE Plus Clinical ENSP00000288139.3:p.Ser1820=
ENST00000350061.11:c.5399G= MANE Select ENSP00000288133.5:p.Ser1800=
ENST00000422281.7:c.5354G= ENSP00000409174.2:p.Ser1785=
ENST00000636448.1:c.1520G=
ENST00000636570.1:c.5354G= ENSP00000490183.1:p.Ser1785=
ENST00000636629.1:n.755G=
ENST00000636633.1:n.2398G=
ENST00000636999.1:n.826G=
ENST00000637424.1:c.5426G= ENSP00000489769.1:p.Ser1809=
ENST00000637844.1:n.153G=
ENST00000288139.8:c.5459G= ENSP00000288139.3:p.Ser1820=
ENST00000350061.9:c.5399G= ENSP00000288133.5:p.Ser1800=
ENST00000422281.6:c.5354G= ENSP00000409174.2:p.Ser1785=
ENST00000481478.1:c.4478G= ENSP00000418014.1:p.Ser1493=
NM_000720.3:c.5459G= NP_000711.1:p.Ser1820=
NM_001128839.2:c.5354G= NP_001122311.1:p.Ser1785=
NM_001128840.2:c.5399G= NP_001122312.1:p.Ser1800=
XM_005265448.2:c.5354G= XP_005265505.1:p.Ser1785=
XM_011534094.1:c.5654G= XP_011532396.1:p.Ser1885=
XM_011534095.1:c.5543G= XP_011532397.1:p.Ser1848=
XM_011534096.1:c.5465G= XP_011532398.1:p.Ser1822=
XM_011534097.1:c.5117G= XP_011532399.1:p.Ser1706=
XM_011534098.1:c.5117G= XP_011532400.1:p.Ser1706=
XM_011534099.1:c.4742G= XP_011532401.1:p.Ser1581=
XM_011534100.1:c.5549G= XP_011532402.1:p.Ser1850=
XM_005265448.3:c.5354G= XP_005265505.1:p.Ser1785=
XM_011534094.2:c.5654G= XP_011532396.1:p.Ser1885=
XM_011534096.2:c.5465G= XP_011532398.1:p.Ser1822=
XM_011534097.2:c.5117G= XP_011532399.1:p.Ser1706=
XM_011534099.2:c.4742G= XP_011532401.1:p.Ser1581=
XM_011534100.2:c.5549G= XP_011532402.1:p.Ser1850=
XM_017007137.1:c.5654G= XP_016862626.1:p.Ser1885=
XM_017007138.1:c.5651G= XP_016862627.1:p.Ser1884=
XM_017007139.1:c.5654G= XP_016862628.1:p.Ser1885=
XM_017007140.1:c.5594G= XP_016862629.1:p.Ser1865=
XM_017007141.1:c.5594G= XP_016862630.1:p.Ser1865=
XM_017007142.1:c.5570G= XP_016862631.1:p.Ser1857=
XM_017007143.1:c.5570G= XP_016862632.1:p.Ser1857=
XM_017007144.1:c.5570G= XP_016862633.1:p.Ser1857=
XM_017007145.1:c.5525G= XP_016862634.1:p.Ser1842=
NM_001128840.3:c.5399G= MANE Select NP_001122312.1:p.Ser1800=
NM_000720.4:c.5459G= MANE Plus Clinical NP_000711.1:p.Ser1820=
NM_001128839.3:c.5354G= NP_001122311.1:p.Ser1785=