Canonical Allele Identifier: CA353250571

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835250G>T (hg19) ; chr3:g.53801223G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801223G>T , CM000665.2:g.53801223G>T	GRCh38
NC_000003.11:g.53835250G>T , CM000665.1:g.53835250G>T	GRCh37
NC_000003.10:g.53810290G>T	NCBI36
NG_032999.1:g.311175G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5266G>T	ENSP00000418014.2:p.Val1756Leu
ENST00000636633.2:n.2205G>T
ENST00000636999.2:n.641G>T
ENST00000288139.11:c.5266G>T MANE Plus Clinical	ENSP00000288139.3:p.Val1756Leu
ENST00000350061.11:c.5206G>T MANE Select	ENSP00000288133.5:p.Val1736Leu
ENST00000422281.7:c.5161G>T	ENSP00000409174.2:p.Val1721Leu
ENST00000636448.1:c.1327G>T
ENST00000636570.1:c.5161G>T	ENSP00000490183.1:p.Val1721Leu
ENST00000636629.1:n.562G>T
ENST00000636633.1:n.2205G>T
ENST00000636999.1:n.633G>T
ENST00000637424.1:c.5233G>T	ENSP00000489769.1:p.Val1745Leu
ENST00000288139.8:c.5266G>T	ENSP00000288139.3:p.Val1756Leu
ENST00000350061.9:c.5206G>T	ENSP00000288133.5:p.Val1736Leu
ENST00000422281.6:c.5161G>T	ENSP00000409174.2:p.Val1721Leu
ENST00000481478.1:c.4285G>T	ENSP00000418014.1:p.Val1429Leu
NM_000720.3:c.5266G>T	NP_000711.1:p.Val1756Leu
NM_001128839.2:c.5161G>T	NP_001122311.1:p.Val1721Leu
NM_001128840.2:c.5206G>T	NP_001122312.1:p.Val1736Leu
XM_005265448.2:c.5161G>T	XP_005265505.1:p.Val1721Leu
XM_011534094.1:c.5461G>T	XP_011532396.1:p.Val1821Leu
XM_011534095.1:c.5350G>T	XP_011532397.1:p.Val1784Leu
XM_011534096.1:c.5272G>T	XP_011532398.1:p.Val1758Leu
XM_011534097.1:c.4924G>T	XP_011532399.1:p.Val1642Leu
XM_011534098.1:c.4924G>T	XP_011532400.1:p.Val1642Leu
XM_011534099.1:c.4549G>T	XP_011532401.1:p.Val1517Leu
XM_011534100.1:c.5356G>T	XP_011532402.1:p.Val1786Leu
XM_005265448.3:c.5161G>T	XP_005265505.1:p.Val1721Leu
XM_011534094.2:c.5461G>T	XP_011532396.1:p.Val1821Leu
XM_011534096.2:c.5272G>T	XP_011532398.1:p.Val1758Leu
XM_011534097.2:c.4924G>T	XP_011532399.1:p.Val1642Leu
XM_011534099.2:c.4549G>T	XP_011532401.1:p.Val1517Leu
XM_011534100.2:c.5356G>T	XP_011532402.1:p.Val1786Leu
XM_017007137.1:c.5461G>T	XP_016862626.1:p.Val1821Leu
XM_017007138.1:c.5458G>T	XP_016862627.1:p.Val1820Leu
XM_017007139.1:c.5461G>T	XP_016862628.1:p.Val1821Leu
XM_017007140.1:c.5401G>T	XP_016862629.1:p.Val1801Leu
XM_017007141.1:c.5401G>T	XP_016862630.1:p.Val1801Leu
XM_017007142.1:c.5377G>T	XP_016862631.1:p.Val1793Leu
XM_017007143.1:c.5377G>T	XP_016862632.1:p.Val1793Leu
XM_017007144.1:c.5377G>T	XP_016862633.1:p.Val1793Leu
XM_017007145.1:c.5332G>T	XP_016862634.1:p.Val1778Leu
NM_001128840.3:c.5206G>T MANE Select	NP_001122312.1:p.Val1736Leu
NM_000720.4:c.5266G>T MANE Plus Clinical	NP_000711.1:p.Val1756Leu
NM_001128839.3:c.5161G>T	NP_001122311.1:p.Val1721Leu