Canonical Allele Identifier: CA353250599

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835255T>A (hg19) ; chr3:g.53801228T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801228T>A , CM000665.2:g.53801228T>A	GRCh38
NC_000003.11:g.53835255T>A , CM000665.1:g.53835255T>A	GRCh37
NC_000003.10:g.53810295T>A	NCBI36
NG_032999.1:g.311180T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5271T>A	ENSP00000418014.2:p.Cys1757Ter
ENST00000636633.2:n.2210T>A
ENST00000636999.2:n.646T>A
ENST00000288139.11:c.5271T>A MANE Plus Clinical	ENSP00000288139.3:p.Cys1757Ter
ENST00000350061.11:c.5211T>A MANE Select	ENSP00000288133.5:p.Cys1737Ter
ENST00000422281.7:c.5166T>A	ENSP00000409174.2:p.Cys1722Ter
ENST00000636448.1:c.1332T>A
ENST00000636570.1:c.5166T>A	ENSP00000490183.1:p.Cys1722Ter
ENST00000636629.1:n.567T>A
ENST00000636633.1:n.2210T>A
ENST00000636999.1:n.638T>A
ENST00000637424.1:c.5238T>A	ENSP00000489769.1:p.Cys1746Ter
ENST00000288139.8:c.5271T>A	ENSP00000288139.3:p.Cys1757Ter
ENST00000350061.9:c.5211T>A	ENSP00000288133.5:p.Cys1737Ter
ENST00000422281.6:c.5166T>A	ENSP00000409174.2:p.Cys1722Ter
ENST00000481478.1:c.4290T>A	ENSP00000418014.1:p.Cys1430Ter
NM_000720.3:c.5271T>A	NP_000711.1:p.Cys1757Ter
NM_001128839.2:c.5166T>A	NP_001122311.1:p.Cys1722Ter
NM_001128840.2:c.5211T>A	NP_001122312.1:p.Cys1737Ter
XM_005265448.2:c.5166T>A	XP_005265505.1:p.Cys1722Ter
XM_011534094.1:c.5466T>A	XP_011532396.1:p.Cys1822Ter
XM_011534095.1:c.5355T>A	XP_011532397.1:p.Cys1785Ter
XM_011534096.1:c.5277T>A	XP_011532398.1:p.Cys1759Ter
XM_011534097.1:c.4929T>A	XP_011532399.1:p.Cys1643Ter
XM_011534098.1:c.4929T>A	XP_011532400.1:p.Cys1643Ter
XM_011534099.1:c.4554T>A	XP_011532401.1:p.Cys1518Ter
XM_011534100.1:c.5361T>A	XP_011532402.1:p.Cys1787Ter
XM_005265448.3:c.5166T>A	XP_005265505.1:p.Cys1722Ter
XM_011534094.2:c.5466T>A	XP_011532396.1:p.Cys1822Ter
XM_011534096.2:c.5277T>A	XP_011532398.1:p.Cys1759Ter
XM_011534097.2:c.4929T>A	XP_011532399.1:p.Cys1643Ter
XM_011534099.2:c.4554T>A	XP_011532401.1:p.Cys1518Ter
XM_011534100.2:c.5361T>A	XP_011532402.1:p.Cys1787Ter
XM_017007137.1:c.5466T>A	XP_016862626.1:p.Cys1822Ter
XM_017007138.1:c.5463T>A	XP_016862627.1:p.Cys1821Ter
XM_017007139.1:c.5466T>A	XP_016862628.1:p.Cys1822Ter
XM_017007140.1:c.5406T>A	XP_016862629.1:p.Cys1802Ter
XM_017007141.1:c.5406T>A	XP_016862630.1:p.Cys1802Ter
XM_017007142.1:c.5382T>A	XP_016862631.1:p.Cys1794Ter
XM_017007143.1:c.5382T>A	XP_016862632.1:p.Cys1794Ter
XM_017007144.1:c.5382T>A	XP_016862633.1:p.Cys1794Ter
XM_017007145.1:c.5337T>A	XP_016862634.1:p.Cys1779Ter
NM_001128840.3:c.5211T>A MANE Select	NP_001122312.1:p.Cys1737Ter
NM_000720.4:c.5271T>A MANE Plus Clinical	NP_000711.1:p.Cys1757Ter
NM_001128839.3:c.5166T>A	NP_001122311.1:p.Cys1722Ter