Canonical Allele Identifier: CA1365484215

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801348T= , CM000665.2:g.53801348T=	GRCh38
NC_000003.11:g.53835375T= , CM000665.1:g.53835375T=	GRCh37
NC_000003.10:g.53810415T=	NCBI36
NG_032999.1:g.311300T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5391T=	ENSP00000418014.2:p.Leu1797=
ENST00000636633.2:n.2330T=
ENST00000636999.2:n.766T=
ENST00000288139.11:c.5391T= MANE Plus Clinical	ENSP00000288139.3:p.Leu1797=
ENST00000350061.11:c.5331T= MANE Select	ENSP00000288133.5:p.Leu1777=
ENST00000422281.7:c.5286T=	ENSP00000409174.2:p.Leu1762=
ENST00000636448.1:c.1452T=
ENST00000636570.1:c.5286T=	ENSP00000490183.1:p.Leu1762=
ENST00000636629.1:n.687T=
ENST00000636633.1:n.2330T=
ENST00000636999.1:n.758T=
ENST00000637424.1:c.5358T=	ENSP00000489769.1:p.Leu1786=
ENST00000637844.1:n.85T=
ENST00000288139.8:c.5391T=	ENSP00000288139.3:p.Leu1797=
ENST00000350061.9:c.5331T=	ENSP00000288133.5:p.Leu1777=
ENST00000422281.6:c.5286T=	ENSP00000409174.2:p.Leu1762=
ENST00000481478.1:c.4410T=	ENSP00000418014.1:p.Leu1470=
NM_000720.3:c.5391T=	NP_000711.1:p.Leu1797=
NM_001128839.2:c.5286T=	NP_001122311.1:p.Leu1762=
NM_001128840.2:c.5331T=	NP_001122312.1:p.Leu1777=
XM_005265448.2:c.5286T=	XP_005265505.1:p.Leu1762=
XM_011534094.1:c.5586T=	XP_011532396.1:p.Leu1862=
XM_011534095.1:c.5475T=	XP_011532397.1:p.Leu1825=
XM_011534096.1:c.5397T=	XP_011532398.1:p.Leu1799=
XM_011534097.1:c.5049T=	XP_011532399.1:p.Leu1683=
XM_011534098.1:c.5049T=	XP_011532400.1:p.Leu1683=
XM_011534099.1:c.4674T=	XP_011532401.1:p.Leu1558=
XM_011534100.1:c.5481T=	XP_011532402.1:p.Leu1827=
XM_005265448.3:c.5286T=	XP_005265505.1:p.Leu1762=
XM_011534094.2:c.5586T=	XP_011532396.1:p.Leu1862=
XM_011534096.2:c.5397T=	XP_011532398.1:p.Leu1799=
XM_011534097.2:c.5049T=	XP_011532399.1:p.Leu1683=
XM_011534099.2:c.4674T=	XP_011532401.1:p.Leu1558=
XM_011534100.2:c.5481T=	XP_011532402.1:p.Leu1827=
XM_017007137.1:c.5586T=	XP_016862626.1:p.Leu1862=
XM_017007138.1:c.5583T=	XP_016862627.1:p.Leu1861=
XM_017007139.1:c.5586T=	XP_016862628.1:p.Leu1862=
XM_017007140.1:c.5526T=	XP_016862629.1:p.Leu1842=
XM_017007141.1:c.5526T=	XP_016862630.1:p.Leu1842=
XM_017007142.1:c.5502T=	XP_016862631.1:p.Leu1834=
XM_017007143.1:c.5502T=	XP_016862632.1:p.Leu1834=
XM_017007144.1:c.5502T=	XP_016862633.1:p.Leu1834=
XM_017007145.1:c.5457T=	XP_016862634.1:p.Leu1819=
NM_001128840.3:c.5331T= MANE Select	NP_001122312.1:p.Leu1777=
NM_000720.4:c.5391T= MANE Plus Clinical	NP_000711.1:p.Leu1797=
NM_001128839.3:c.5286T=	NP_001122311.1:p.Leu1762=