Canonical Allele Identifier: CA1365484229

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801395G= , CM000665.2:g.53801395G=	GRCh38
NC_000003.11:g.53835422G= , CM000665.1:g.53835422G=	GRCh37
NC_000003.10:g.53810462G=	NCBI36
NG_032999.1:g.311347G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5438G=	ENSP00000418014.2:p.Arg1813=
ENST00000636633.2:n.2377G=
ENST00000636999.2:n.813G=
ENST00000288139.11:c.5438G= MANE Plus Clinical	ENSP00000288139.3:p.Arg1813=
ENST00000350061.11:c.5378G= MANE Select	ENSP00000288133.5:p.Arg1793=
ENST00000422281.7:c.5333G=	ENSP00000409174.2:p.Arg1778=
ENST00000636448.1:c.1499G=
ENST00000636570.1:c.5333G=	ENSP00000490183.1:p.Arg1778=
ENST00000636629.1:n.734G=
ENST00000636633.1:n.2377G=
ENST00000636999.1:n.805G=
ENST00000637424.1:c.5405G=	ENSP00000489769.1:p.Arg1802=
ENST00000637844.1:n.132G=
ENST00000288139.8:c.5438G=	ENSP00000288139.3:p.Arg1813=
ENST00000350061.9:c.5378G=	ENSP00000288133.5:p.Arg1793=
ENST00000422281.6:c.5333G=	ENSP00000409174.2:p.Arg1778=
ENST00000481478.1:c.4457G=	ENSP00000418014.1:p.Arg1486=
NM_000720.3:c.5438G=	NP_000711.1:p.Arg1813=
NM_001128839.2:c.5333G=	NP_001122311.1:p.Arg1778=
NM_001128840.2:c.5378G=	NP_001122312.1:p.Arg1793=
XM_005265448.2:c.5333G=	XP_005265505.1:p.Arg1778=
XM_011534094.1:c.5633G=	XP_011532396.1:p.Arg1878=
XM_011534095.1:c.5522G=	XP_011532397.1:p.Arg1841=
XM_011534096.1:c.5444G=	XP_011532398.1:p.Arg1815=
XM_011534097.1:c.5096G=	XP_011532399.1:p.Arg1699=
XM_011534098.1:c.5096G=	XP_011532400.1:p.Arg1699=
XM_011534099.1:c.4721G=	XP_011532401.1:p.Arg1574=
XM_011534100.1:c.5528G=	XP_011532402.1:p.Arg1843=
XM_005265448.3:c.5333G=	XP_005265505.1:p.Arg1778=
XM_011534094.2:c.5633G=	XP_011532396.1:p.Arg1878=
XM_011534096.2:c.5444G=	XP_011532398.1:p.Arg1815=
XM_011534097.2:c.5096G=	XP_011532399.1:p.Arg1699=
XM_011534099.2:c.4721G=	XP_011532401.1:p.Arg1574=
XM_011534100.2:c.5528G=	XP_011532402.1:p.Arg1843=
XM_017007137.1:c.5633G=	XP_016862626.1:p.Arg1878=
XM_017007138.1:c.5630G=	XP_016862627.1:p.Arg1877=
XM_017007139.1:c.5633G=	XP_016862628.1:p.Arg1878=
XM_017007140.1:c.5573G=	XP_016862629.1:p.Arg1858=
XM_017007141.1:c.5573G=	XP_016862630.1:p.Arg1858=
XM_017007142.1:c.5549G=	XP_016862631.1:p.Arg1850=
XM_017007143.1:c.5549G=	XP_016862632.1:p.Arg1850=
XM_017007144.1:c.5549G=	XP_016862633.1:p.Arg1850=
XM_017007145.1:c.5504G=	XP_016862634.1:p.Arg1835=
NM_001128840.3:c.5378G= MANE Select	NP_001122312.1:p.Arg1793=
NM_000720.4:c.5438G= MANE Plus Clinical	NP_000711.1:p.Arg1813=
NM_001128839.3:c.5333G=	NP_001122311.1:p.Arg1778=