Canonical Allele Identifier: CA353250174

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835197T>C (hg19) ; chr3:g.53801170T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801170T>C , CM000665.2:g.53801170T>C	GRCh38
NC_000003.11:g.53835197T>C , CM000665.1:g.53835197T>C	GRCh37
NC_000003.10:g.53810237T>C	NCBI36
NG_032999.1:g.311122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5213T>C	ENSP00000418014.2:p.Ile1738Thr
ENST00000636633.2:n.2194-42T>C
ENST00000636999.2:n.588T>C
ENST00000288139.11:c.5213T>C MANE Plus Clinical	ENSP00000288139.3:p.Ile1738Thr
ENST00000350061.11:c.5153T>C MANE Select	ENSP00000288133.5:p.Ile1718Thr
ENST00000422281.7:c.5108T>C	ENSP00000409174.2:p.Ile1703Thr
ENST00000636448.1:c.1316-42T>C
ENST00000636570.1:c.5108T>C	ENSP00000490183.1:p.Ile1703Thr
ENST00000636629.1:n.509T>C
ENST00000636633.1:n.2194-42T>C
ENST00000636999.1:n.580T>C
ENST00000637424.1:c.5180T>C	ENSP00000489769.1:p.Ile1727Thr
ENST00000288139.8:c.5213T>C	ENSP00000288139.3:p.Ile1738Thr
ENST00000350061.9:c.5153T>C	ENSP00000288133.5:p.Ile1718Thr
ENST00000422281.6:c.5108T>C	ENSP00000409174.2:p.Ile1703Thr
ENST00000481478.1:c.4232T>C	ENSP00000418014.1:p.Ile1411Thr
NM_000720.3:c.5213T>C	NP_000711.1:p.Ile1738Thr
NM_001128839.2:c.5108T>C	NP_001122311.1:p.Ile1703Thr
NM_001128840.2:c.5153T>C	NP_001122312.1:p.Ile1718Thr
XM_005265448.2:c.5108T>C	XP_005265505.1:p.Ile1703Thr
XM_011534094.1:c.5408T>C	XP_011532396.1:p.Ile1803Thr
XM_011534095.1:c.5297T>C	XP_011532397.1:p.Ile1766Thr
XM_011534096.1:c.5219T>C	XP_011532398.1:p.Ile1740Thr
XM_011534097.1:c.4871T>C	XP_011532399.1:p.Ile1624Thr
XM_011534098.1:c.4871T>C	XP_011532400.1:p.Ile1624Thr
XM_011534099.1:c.4496T>C	XP_011532401.1:p.Ile1499Thr
XM_011534100.1:c.5303T>C	XP_011532402.1:p.Ile1768Thr
XM_005265448.3:c.5108T>C	XP_005265505.1:p.Ile1703Thr
XM_011534094.2:c.5408T>C	XP_011532396.1:p.Ile1803Thr
XM_011534096.2:c.5219T>C	XP_011532398.1:p.Ile1740Thr
XM_011534097.2:c.4871T>C	XP_011532399.1:p.Ile1624Thr
XM_011534099.2:c.4496T>C	XP_011532401.1:p.Ile1499Thr
XM_011534100.2:c.5303T>C	XP_011532402.1:p.Ile1768Thr
XM_017007137.1:c.5408T>C	XP_016862626.1:p.Ile1803Thr
XM_017007138.1:c.5405T>C	XP_016862627.1:p.Ile1802Thr
XM_017007139.1:c.5408T>C	XP_016862628.1:p.Ile1803Thr
XM_017007140.1:c.5348T>C	XP_016862629.1:p.Ile1783Thr
XM_017007141.1:c.5348T>C	XP_016862630.1:p.Ile1783Thr
XM_017007142.1:c.5324T>C	XP_016862631.1:p.Ile1775Thr
XM_017007143.1:c.5324T>C	XP_016862632.1:p.Ile1775Thr
XM_017007144.1:c.5324T>C	XP_016862633.1:p.Ile1775Thr
XM_017007145.1:c.5279T>C	XP_016862634.1:p.Ile1760Thr
NM_001128840.3:c.5153T>C MANE Select	NP_001122312.1:p.Ile1718Thr
NM_000720.4:c.5213T>C MANE Plus Clinical	NP_000711.1:p.Ile1738Thr
NM_001128839.3:c.5108T>C	NP_001122311.1:p.Ile1703Thr