Canonical Allele Identifier: CA1365484151

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801135C= , CM000665.2:g.53801135C=	GRCh38
NC_000003.11:g.53835162C= , CM000665.1:g.53835162C=	GRCh37
NC_000003.10:g.53810202C=	NCBI36
NG_032999.1:g.311087C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5178C=	ENSP00000418014.2:p.Thr1726=
ENST00000636633.2:n.2194-77C=
ENST00000636999.2:n.553C=
ENST00000288139.11:c.5178C= MANE Plus Clinical	ENSP00000288139.3:p.Thr1726=
ENST00000350061.11:c.5118C= MANE Select	ENSP00000288133.5:p.Thr1706=
ENST00000422281.7:c.5073C=	ENSP00000409174.2:p.Thr1691=
ENST00000636448.1:c.1316-77C=
ENST00000636570.1:c.5073C=	ENSP00000490183.1:p.Thr1691=
ENST00000636629.1:n.474C=
ENST00000636633.1:n.2194-77C=
ENST00000636999.1:n.545C=
ENST00000637424.1:c.5145C=	ENSP00000489769.1:p.Thr1715=
ENST00000288139.8:c.5178C=	ENSP00000288139.3:p.Thr1726=
ENST00000350061.9:c.5118C=	ENSP00000288133.5:p.Thr1706=
ENST00000422281.6:c.5073C=	ENSP00000409174.2:p.Thr1691=
ENST00000481478.1:c.4197C=	ENSP00000418014.1:p.Thr1399=
NM_000720.3:c.5178C=	NP_000711.1:p.Thr1726=
NM_001128839.2:c.5073C=	NP_001122311.1:p.Thr1691=
NM_001128840.2:c.5118C=	NP_001122312.1:p.Thr1706=
XM_005265448.2:c.5073C=	XP_005265505.1:p.Thr1691=
XM_011534094.1:c.5373C=	XP_011532396.1:p.Thr1791=
XM_011534095.1:c.5262C=	XP_011532397.1:p.Thr1754=
XM_011534096.1:c.5184C=	XP_011532398.1:p.Thr1728=
XM_011534097.1:c.4836C=	XP_011532399.1:p.Thr1612=
XM_011534098.1:c.4836C=	XP_011532400.1:p.Thr1612=
XM_011534099.1:c.4461C=	XP_011532401.1:p.Thr1487=
XM_011534100.1:c.5268C=	XP_011532402.1:p.Thr1756=
XM_005265448.3:c.5073C=	XP_005265505.1:p.Thr1691=
XM_011534094.2:c.5373C=	XP_011532396.1:p.Thr1791=
XM_011534096.2:c.5184C=	XP_011532398.1:p.Thr1728=
XM_011534097.2:c.4836C=	XP_011532399.1:p.Thr1612=
XM_011534099.2:c.4461C=	XP_011532401.1:p.Thr1487=
XM_011534100.2:c.5268C=	XP_011532402.1:p.Thr1756=
XM_017007137.1:c.5373C=	XP_016862626.1:p.Thr1791=
XM_017007138.1:c.5370C=	XP_016862627.1:p.Thr1790=
XM_017007139.1:c.5373C=	XP_016862628.1:p.Thr1791=
XM_017007140.1:c.5313C=	XP_016862629.1:p.Thr1771=
XM_017007141.1:c.5313C=	XP_016862630.1:p.Thr1771=
XM_017007142.1:c.5289C=	XP_016862631.1:p.Thr1763=
XM_017007143.1:c.5289C=	XP_016862632.1:p.Thr1763=
XM_017007144.1:c.5289C=	XP_016862633.1:p.Thr1763=
XM_017007145.1:c.5244C=	XP_016862634.1:p.Thr1748=
NM_001128840.3:c.5118C= MANE Select	NP_001122312.1:p.Thr1706=
NM_000720.4:c.5178C= MANE Plus Clinical	NP_000711.1:p.Thr1726=
NM_001128839.3:c.5073C=	NP_001122311.1:p.Thr1691=