Canonical Allele Identifier: CA1365484158

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801175C= , CM000665.2:g.53801175C=	GRCh38
NC_000003.11:g.53835202C= , CM000665.1:g.53835202C=	GRCh37
NC_000003.10:g.53810242C=	NCBI36
NG_032999.1:g.311127C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5218C=	ENSP00000418014.2:p.Pro1740=
ENST00000636633.2:n.2194-37C=
ENST00000636999.2:n.593C=
ENST00000288139.11:c.5218C= MANE Plus Clinical	ENSP00000288139.3:p.Pro1740=
ENST00000350061.11:c.5158C= MANE Select	ENSP00000288133.5:p.Pro1720=
ENST00000422281.7:c.5113C=	ENSP00000409174.2:p.Pro1705=
ENST00000636448.1:c.1316-37C=
ENST00000636570.1:c.5113C=	ENSP00000490183.1:p.Pro1705=
ENST00000636629.1:n.514C=
ENST00000636633.1:n.2194-37C=
ENST00000636999.1:n.585C=
ENST00000637424.1:c.5185C=	ENSP00000489769.1:p.Pro1729=
ENST00000288139.8:c.5218C=	ENSP00000288139.3:p.Pro1740=
ENST00000350061.9:c.5158C=	ENSP00000288133.5:p.Pro1720=
ENST00000422281.6:c.5113C=	ENSP00000409174.2:p.Pro1705=
ENST00000481478.1:c.4237C=	ENSP00000418014.1:p.Pro1413=
NM_000720.3:c.5218C=	NP_000711.1:p.Pro1740=
NM_001128839.2:c.5113C=	NP_001122311.1:p.Pro1705=
NM_001128840.2:c.5158C=	NP_001122312.1:p.Pro1720=
XM_005265448.2:c.5113C=	XP_005265505.1:p.Pro1705=
XM_011534094.1:c.5413C=	XP_011532396.1:p.Pro1805=
XM_011534095.1:c.5302C=	XP_011532397.1:p.Pro1768=
XM_011534096.1:c.5224C=	XP_011532398.1:p.Pro1742=
XM_011534097.1:c.4876C=	XP_011532399.1:p.Pro1626=
XM_011534098.1:c.4876C=	XP_011532400.1:p.Pro1626=
XM_011534099.1:c.4501C=	XP_011532401.1:p.Pro1501=
XM_011534100.1:c.5308C=	XP_011532402.1:p.Pro1770=
XM_005265448.3:c.5113C=	XP_005265505.1:p.Pro1705=
XM_011534094.2:c.5413C=	XP_011532396.1:p.Pro1805=
XM_011534096.2:c.5224C=	XP_011532398.1:p.Pro1742=
XM_011534097.2:c.4876C=	XP_011532399.1:p.Pro1626=
XM_011534099.2:c.4501C=	XP_011532401.1:p.Pro1501=
XM_011534100.2:c.5308C=	XP_011532402.1:p.Pro1770=
XM_017007137.1:c.5413C=	XP_016862626.1:p.Pro1805=
XM_017007138.1:c.5410C=	XP_016862627.1:p.Pro1804=
XM_017007139.1:c.5413C=	XP_016862628.1:p.Pro1805=
XM_017007140.1:c.5353C=	XP_016862629.1:p.Pro1785=
XM_017007141.1:c.5353C=	XP_016862630.1:p.Pro1785=
XM_017007142.1:c.5329C=	XP_016862631.1:p.Pro1777=
XM_017007143.1:c.5329C=	XP_016862632.1:p.Pro1777=
XM_017007144.1:c.5329C=	XP_016862633.1:p.Pro1777=
XM_017007145.1:c.5284C=	XP_016862634.1:p.Pro1762=
NM_001128840.3:c.5158C= MANE Select	NP_001122312.1:p.Pro1720=
NM_000720.4:c.5218C= MANE Plus Clinical	NP_000711.1:p.Pro1740=
NM_001128839.3:c.5113C=	NP_001122311.1:p.Pro1705=