Canonical Allele Identifier: CA1365484230
Gene: CACNA1D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801401C= , CM000665.2:g.53801401C= GRCh38
NC_000003.11:g.53835428C= , CM000665.1:g.53835428C= GRCh37
NC_000003.10:g.53810468C= NCBI36
NG_032999.1:g.311353C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5444C= ENSP00000418014.2:p.Pro1815=
ENST00000636633.2:n.2383C=
ENST00000636999.2:n.819C=
ENST00000288139.11:c.5444C= MANE Plus Clinical ENSP00000288139.3:p.Pro1815=
ENST00000350061.11:c.5384C= MANE Select ENSP00000288133.5:p.Pro1795=
ENST00000422281.7:c.5339C= ENSP00000409174.2:p.Pro1780=
ENST00000636448.1:c.1505C=
ENST00000636570.1:c.5339C= ENSP00000490183.1:p.Pro1780=
ENST00000636629.1:n.740C=
ENST00000636633.1:n.2383C=
ENST00000636999.1:n.811C=
ENST00000637424.1:c.5411C= ENSP00000489769.1:p.Pro1804=
ENST00000637844.1:n.138C=
ENST00000288139.8:c.5444C= ENSP00000288139.3:p.Pro1815=
ENST00000350061.9:c.5384C= ENSP00000288133.5:p.Pro1795=
ENST00000422281.6:c.5339C= ENSP00000409174.2:p.Pro1780=
ENST00000481478.1:c.4463C= ENSP00000418014.1:p.Pro1488=
NM_000720.3:c.5444C= NP_000711.1:p.Pro1815=
NM_001128839.2:c.5339C= NP_001122311.1:p.Pro1780=
NM_001128840.2:c.5384C= NP_001122312.1:p.Pro1795=
XM_005265448.2:c.5339C= XP_005265505.1:p.Pro1780=
XM_011534094.1:c.5639C= XP_011532396.1:p.Pro1880=
XM_011534095.1:c.5528C= XP_011532397.1:p.Pro1843=
XM_011534096.1:c.5450C= XP_011532398.1:p.Pro1817=
XM_011534097.1:c.5102C= XP_011532399.1:p.Pro1701=
XM_011534098.1:c.5102C= XP_011532400.1:p.Pro1701=
XM_011534099.1:c.4727C= XP_011532401.1:p.Pro1576=
XM_011534100.1:c.5534C= XP_011532402.1:p.Pro1845=
XM_005265448.3:c.5339C= XP_005265505.1:p.Pro1780=
XM_011534094.2:c.5639C= XP_011532396.1:p.Pro1880=
XM_011534096.2:c.5450C= XP_011532398.1:p.Pro1817=
XM_011534097.2:c.5102C= XP_011532399.1:p.Pro1701=
XM_011534099.2:c.4727C= XP_011532401.1:p.Pro1576=
XM_011534100.2:c.5534C= XP_011532402.1:p.Pro1845=
XM_017007137.1:c.5639C= XP_016862626.1:p.Pro1880=
XM_017007138.1:c.5636C= XP_016862627.1:p.Pro1879=
XM_017007139.1:c.5639C= XP_016862628.1:p.Pro1880=
XM_017007140.1:c.5579C= XP_016862629.1:p.Pro1860=
XM_017007141.1:c.5579C= XP_016862630.1:p.Pro1860=
XM_017007142.1:c.5555C= XP_016862631.1:p.Pro1852=
XM_017007143.1:c.5555C= XP_016862632.1:p.Pro1852=
XM_017007144.1:c.5555C= XP_016862633.1:p.Pro1852=
XM_017007145.1:c.5510C= XP_016862634.1:p.Pro1837=
NM_001128840.3:c.5384C= MANE Select NP_001122312.1:p.Pro1795=
NM_000720.4:c.5444C= MANE Plus Clinical NP_000711.1:p.Pro1815=
NM_001128839.3:c.5339C= NP_001122311.1:p.Pro1780=