Canonical Allele Identifier: CA353250333

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835217G>A (hg19) ; chr3:g.53801190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801190G>A , CM000665.2:g.53801190G>A	GRCh38
NC_000003.11:g.53835217G>A , CM000665.1:g.53835217G>A	GRCh37
NC_000003.10:g.53810257G>A	NCBI36
NG_032999.1:g.311142G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5233G>A	ENSP00000418014.2:p.Glu1745Lys
ENST00000636633.2:n.2194-22G>A
ENST00000636999.2:n.608G>A
ENST00000288139.11:c.5233G>A MANE Plus Clinical	ENSP00000288139.3:p.Glu1745Lys
ENST00000350061.11:c.5173G>A MANE Select	ENSP00000288133.5:p.Glu1725Lys
ENST00000422281.7:c.5128G>A	ENSP00000409174.2:p.Glu1710Lys
ENST00000636448.1:c.1316-22G>A
ENST00000636570.1:c.5128G>A	ENSP00000490183.1:p.Glu1710Lys
ENST00000636629.1:n.529G>A
ENST00000636633.1:n.2194-22G>A
ENST00000636999.1:n.600G>A
ENST00000637424.1:c.5200G>A	ENSP00000489769.1:p.Glu1734Lys
ENST00000288139.8:c.5233G>A	ENSP00000288139.3:p.Glu1745Lys
ENST00000350061.9:c.5173G>A	ENSP00000288133.5:p.Glu1725Lys
ENST00000422281.6:c.5128G>A	ENSP00000409174.2:p.Glu1710Lys
ENST00000481478.1:c.4252G>A	ENSP00000418014.1:p.Glu1418Lys
NM_000720.3:c.5233G>A	NP_000711.1:p.Glu1745Lys
NM_001128839.2:c.5128G>A	NP_001122311.1:p.Glu1710Lys
NM_001128840.2:c.5173G>A	NP_001122312.1:p.Glu1725Lys
XM_005265448.2:c.5128G>A	XP_005265505.1:p.Glu1710Lys
XM_011534094.1:c.5428G>A	XP_011532396.1:p.Glu1810Lys
XM_011534095.1:c.5317G>A	XP_011532397.1:p.Glu1773Lys
XM_011534096.1:c.5239G>A	XP_011532398.1:p.Glu1747Lys
XM_011534097.1:c.4891G>A	XP_011532399.1:p.Glu1631Lys
XM_011534098.1:c.4891G>A	XP_011532400.1:p.Glu1631Lys
XM_011534099.1:c.4516G>A	XP_011532401.1:p.Glu1506Lys
XM_011534100.1:c.5323G>A	XP_011532402.1:p.Glu1775Lys
XM_005265448.3:c.5128G>A	XP_005265505.1:p.Glu1710Lys
XM_011534094.2:c.5428G>A	XP_011532396.1:p.Glu1810Lys
XM_011534096.2:c.5239G>A	XP_011532398.1:p.Glu1747Lys
XM_011534097.2:c.4891G>A	XP_011532399.1:p.Glu1631Lys
XM_011534099.2:c.4516G>A	XP_011532401.1:p.Glu1506Lys
XM_011534100.2:c.5323G>A	XP_011532402.1:p.Glu1775Lys
XM_017007137.1:c.5428G>A	XP_016862626.1:p.Glu1810Lys
XM_017007138.1:c.5425G>A	XP_016862627.1:p.Glu1809Lys
XM_017007139.1:c.5428G>A	XP_016862628.1:p.Glu1810Lys
XM_017007140.1:c.5368G>A	XP_016862629.1:p.Glu1790Lys
XM_017007141.1:c.5368G>A	XP_016862630.1:p.Glu1790Lys
XM_017007142.1:c.5344G>A	XP_016862631.1:p.Glu1782Lys
XM_017007143.1:c.5344G>A	XP_016862632.1:p.Glu1782Lys
XM_017007144.1:c.5344G>A	XP_016862633.1:p.Glu1782Lys
XM_017007145.1:c.5299G>A	XP_016862634.1:p.Glu1767Lys
NM_001128840.3:c.5173G>A MANE Select	NP_001122312.1:p.Glu1725Lys
NM_000720.4:c.5233G>A MANE Plus Clinical	NP_000711.1:p.Glu1745Lys
NM_001128839.3:c.5128G>A	NP_001122311.1:p.Glu1710Lys