Canonical Allele Identifier: CA1365484170

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801225G= , CM000665.2:g.53801225G=	GRCh38
NC_000003.11:g.53835252G= , CM000665.1:g.53835252G=	GRCh37
NC_000003.10:g.53810292G=	NCBI36
NG_032999.1:g.311177G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5268G=	ENSP00000418014.2:p.Val1756=
ENST00000636633.2:n.2207G=
ENST00000636999.2:n.643G=
ENST00000288139.11:c.5268G= MANE Plus Clinical	ENSP00000288139.3:p.Val1756=
ENST00000350061.11:c.5208G= MANE Select	ENSP00000288133.5:p.Val1736=
ENST00000422281.7:c.5163G=	ENSP00000409174.2:p.Val1721=
ENST00000636448.1:c.1329G=
ENST00000636570.1:c.5163G=	ENSP00000490183.1:p.Val1721=
ENST00000636629.1:n.564G=
ENST00000636633.1:n.2207G=
ENST00000636999.1:n.635G=
ENST00000637424.1:c.5235G=	ENSP00000489769.1:p.Val1745=
ENST00000288139.8:c.5268G=	ENSP00000288139.3:p.Val1756=
ENST00000350061.9:c.5208G=	ENSP00000288133.5:p.Val1736=
ENST00000422281.6:c.5163G=	ENSP00000409174.2:p.Val1721=
ENST00000481478.1:c.4287G=	ENSP00000418014.1:p.Val1429=
NM_000720.3:c.5268G=	NP_000711.1:p.Val1756=
NM_001128839.2:c.5163G=	NP_001122311.1:p.Val1721=
NM_001128840.2:c.5208G=	NP_001122312.1:p.Val1736=
XM_005265448.2:c.5163G=	XP_005265505.1:p.Val1721=
XM_011534094.1:c.5463G=	XP_011532396.1:p.Val1821=
XM_011534095.1:c.5352G=	XP_011532397.1:p.Val1784=
XM_011534096.1:c.5274G=	XP_011532398.1:p.Val1758=
XM_011534097.1:c.4926G=	XP_011532399.1:p.Val1642=
XM_011534098.1:c.4926G=	XP_011532400.1:p.Val1642=
XM_011534099.1:c.4551G=	XP_011532401.1:p.Val1517=
XM_011534100.1:c.5358G=	XP_011532402.1:p.Val1786=
XM_005265448.3:c.5163G=	XP_005265505.1:p.Val1721=
XM_011534094.2:c.5463G=	XP_011532396.1:p.Val1821=
XM_011534096.2:c.5274G=	XP_011532398.1:p.Val1758=
XM_011534097.2:c.4926G=	XP_011532399.1:p.Val1642=
XM_011534099.2:c.4551G=	XP_011532401.1:p.Val1517=
XM_011534100.2:c.5358G=	XP_011532402.1:p.Val1786=
XM_017007137.1:c.5463G=	XP_016862626.1:p.Val1821=
XM_017007138.1:c.5460G=	XP_016862627.1:p.Val1820=
XM_017007139.1:c.5463G=	XP_016862628.1:p.Val1821=
XM_017007140.1:c.5403G=	XP_016862629.1:p.Val1801=
XM_017007141.1:c.5403G=	XP_016862630.1:p.Val1801=
XM_017007142.1:c.5379G=	XP_016862631.1:p.Val1793=
XM_017007143.1:c.5379G=	XP_016862632.1:p.Val1793=
XM_017007144.1:c.5379G=	XP_016862633.1:p.Val1793=
XM_017007145.1:c.5334G=	XP_016862634.1:p.Val1778=
NM_001128840.3:c.5208G= MANE Select	NP_001122312.1:p.Val1736=
NM_000720.4:c.5268G= MANE Plus Clinical	NP_000711.1:p.Val1756=
NM_001128839.3:c.5163G=	NP_001122311.1:p.Val1721=