Canonical Allele Identifier: CA433804129

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835420C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801393C>T , CM000665.2:g.53801393C>T	GRCh38
NC_000003.11:g.53835420C>T , CM000665.1:g.53835420C>T	GRCh37
NC_000003.10:g.53810460C>T	NCBI36
NG_032999.1:g.311345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5436C>T	ENSP00000418014.2:p.Asp1812=
ENST00000636633.2:n.2375C>T
ENST00000636999.2:n.811C>T
ENST00000288139.11:c.5436C>T MANE Plus Clinical	ENSP00000288139.3:p.Asp1812=
ENST00000350061.11:c.5376C>T MANE Select	ENSP00000288133.5:p.Asp1792=
ENST00000422281.7:c.5331C>T	ENSP00000409174.2:p.Asp1777=
ENST00000636448.1:c.1497C>T
ENST00000636570.1:c.5331C>T	ENSP00000490183.1:p.Asp1777=
ENST00000636629.1:n.732C>T
ENST00000636633.1:n.2375C>T
ENST00000636999.1:n.803C>T
ENST00000637424.1:c.5403C>T	ENSP00000489769.1:p.Asp1801=
ENST00000637844.1:n.130C>T
ENST00000288139.8:c.5436C>T	ENSP00000288139.3:p.Asp1812=
ENST00000350061.9:c.5376C>T	ENSP00000288133.5:p.Asp1792=
ENST00000422281.6:c.5331C>T	ENSP00000409174.2:p.Asp1777=
ENST00000481478.1:c.4455C>T	ENSP00000418014.1:p.Asp1485=
NM_000720.3:c.5436C>T	NP_000711.1:p.Asp1812=
NM_001128839.2:c.5331C>T	NP_001122311.1:p.Asp1777=
NM_001128840.2:c.5376C>T	NP_001122312.1:p.Asp1792=
XM_005265448.2:c.5331C>T	XP_005265505.1:p.Asp1777=
XM_011534094.1:c.5631C>T	XP_011532396.1:p.Asp1877=
XM_011534095.1:c.5520C>T	XP_011532397.1:p.Asp1840=
XM_011534096.1:c.5442C>T	XP_011532398.1:p.Asp1814=
XM_011534097.1:c.5094C>T	XP_011532399.1:p.Asp1698=
XM_011534098.1:c.5094C>T	XP_011532400.1:p.Asp1698=
XM_011534099.1:c.4719C>T	XP_011532401.1:p.Asp1573=
XM_011534100.1:c.5526C>T	XP_011532402.1:p.Asp1842=
XM_005265448.3:c.5331C>T	XP_005265505.1:p.Asp1777=
XM_011534094.2:c.5631C>T	XP_011532396.1:p.Asp1877=
XM_011534096.2:c.5442C>T	XP_011532398.1:p.Asp1814=
XM_011534097.2:c.5094C>T	XP_011532399.1:p.Asp1698=
XM_011534099.2:c.4719C>T	XP_011532401.1:p.Asp1573=
XM_011534100.2:c.5526C>T	XP_011532402.1:p.Asp1842=
XM_017007137.1:c.5631C>T	XP_016862626.1:p.Asp1877=
XM_017007138.1:c.5628C>T	XP_016862627.1:p.Asp1876=
XM_017007139.1:c.5631C>T	XP_016862628.1:p.Asp1877=
XM_017007140.1:c.5571C>T	XP_016862629.1:p.Asp1857=
XM_017007141.1:c.5571C>T	XP_016862630.1:p.Asp1857=
XM_017007142.1:c.5547C>T	XP_016862631.1:p.Asp1849=
XM_017007143.1:c.5547C>T	XP_016862632.1:p.Asp1849=
XM_017007144.1:c.5547C>T	XP_016862633.1:p.Asp1849=
XM_017007145.1:c.5502C>T	XP_016862634.1:p.Asp1834=
NM_001128840.3:c.5376C>T MANE Select	NP_001122312.1:p.Asp1792=
NM_000720.4:c.5436C>T MANE Plus Clinical	NP_000711.1:p.Asp1812=
NM_001128839.3:c.5331C>T	NP_001122311.1:p.Asp1777=