Canonical Allele Identifier: CA433896139

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835294T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801267T>A , CM000665.2:g.53801267T>A	GRCh38
NC_000003.11:g.53835294T>A , CM000665.1:g.53835294T>A	GRCh37
NC_000003.10:g.53810334T>A	NCBI36
NG_032999.1:g.311219T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5310T>A	ENSP00000418014.2:p.Val1770=
ENST00000636633.2:n.2249T>A
ENST00000636999.2:n.685T>A
ENST00000288139.11:c.5310T>A MANE Plus Clinical	ENSP00000288139.3:p.Val1770=
ENST00000350061.11:c.5250T>A MANE Select	ENSP00000288133.5:p.Val1750=
ENST00000422281.7:c.5205T>A	ENSP00000409174.2:p.Val1735=
ENST00000636448.1:c.1371T>A
ENST00000636570.1:c.5205T>A	ENSP00000490183.1:p.Val1735=
ENST00000636629.1:n.606T>A
ENST00000636633.1:n.2249T>A
ENST00000636999.1:n.677T>A
ENST00000637424.1:c.5277T>A	ENSP00000489769.1:p.Val1759=
ENST00000637844.1:n.4T>A
ENST00000288139.8:c.5310T>A	ENSP00000288139.3:p.Val1770=
ENST00000350061.9:c.5250T>A	ENSP00000288133.5:p.Val1750=
ENST00000422281.6:c.5205T>A	ENSP00000409174.2:p.Val1735=
ENST00000481478.1:c.4329T>A	ENSP00000418014.1:p.Val1443=
NM_000720.3:c.5310T>A	NP_000711.1:p.Val1770=
NM_001128839.2:c.5205T>A	NP_001122311.1:p.Val1735=
NM_001128840.2:c.5250T>A	NP_001122312.1:p.Val1750=
XM_005265448.2:c.5205T>A	XP_005265505.1:p.Val1735=
XM_011534094.1:c.5505T>A	XP_011532396.1:p.Val1835=
XM_011534095.1:c.5394T>A	XP_011532397.1:p.Val1798=
XM_011534096.1:c.5316T>A	XP_011532398.1:p.Val1772=
XM_011534097.1:c.4968T>A	XP_011532399.1:p.Val1656=
XM_011534098.1:c.4968T>A	XP_011532400.1:p.Val1656=
XM_011534099.1:c.4593T>A	XP_011532401.1:p.Val1531=
XM_011534100.1:c.5400T>A	XP_011532402.1:p.Val1800=
XM_005265448.3:c.5205T>A	XP_005265505.1:p.Val1735=
XM_011534094.2:c.5505T>A	XP_011532396.1:p.Val1835=
XM_011534096.2:c.5316T>A	XP_011532398.1:p.Val1772=
XM_011534097.2:c.4968T>A	XP_011532399.1:p.Val1656=
XM_011534099.2:c.4593T>A	XP_011532401.1:p.Val1531=
XM_011534100.2:c.5400T>A	XP_011532402.1:p.Val1800=
XM_017007137.1:c.5505T>A	XP_016862626.1:p.Val1835=
XM_017007138.1:c.5502T>A	XP_016862627.1:p.Val1834=
XM_017007139.1:c.5505T>A	XP_016862628.1:p.Val1835=
XM_017007140.1:c.5445T>A	XP_016862629.1:p.Val1815=
XM_017007141.1:c.5445T>A	XP_016862630.1:p.Val1815=
XM_017007142.1:c.5421T>A	XP_016862631.1:p.Val1807=
XM_017007143.1:c.5421T>A	XP_016862632.1:p.Val1807=
XM_017007144.1:c.5421T>A	XP_016862633.1:p.Val1807=
XM_017007145.1:c.5376T>A	XP_016862634.1:p.Val1792=
NM_001128840.3:c.5250T>A MANE Select	NP_001122312.1:p.Val1750=
NM_000720.4:c.5310T>A MANE Plus Clinical	NP_000711.1:p.Val1770=
NM_001128839.3:c.5205T>A	NP_001122311.1:p.Val1735=