Canonical Allele Identifier: CA353250812

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835299C>G (hg19) ; chr3:g.53801272C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801272C>G , CM000665.2:g.53801272C>G	GRCh38
NC_000003.11:g.53835299C>G , CM000665.1:g.53835299C>G	GRCh37
NC_000003.10:g.53810339C>G	NCBI36
NG_032999.1:g.311224C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5315C>G	ENSP00000418014.2:p.Thr1772Ser
ENST00000636633.2:n.2254C>G
ENST00000636999.2:n.690C>G
ENST00000288139.11:c.5315C>G MANE Plus Clinical	ENSP00000288139.3:p.Thr1772Ser
ENST00000350061.11:c.5255C>G MANE Select	ENSP00000288133.5:p.Thr1752Ser
ENST00000422281.7:c.5210C>G	ENSP00000409174.2:p.Thr1737Ser
ENST00000636448.1:c.1376C>G
ENST00000636570.1:c.5210C>G	ENSP00000490183.1:p.Thr1737Ser
ENST00000636629.1:n.611C>G
ENST00000636633.1:n.2254C>G
ENST00000636999.1:n.682C>G
ENST00000637424.1:c.5282C>G	ENSP00000489769.1:p.Thr1761Ser
ENST00000637844.1:n.9C>G
ENST00000288139.8:c.5315C>G	ENSP00000288139.3:p.Thr1772Ser
ENST00000350061.9:c.5255C>G	ENSP00000288133.5:p.Thr1752Ser
ENST00000422281.6:c.5210C>G	ENSP00000409174.2:p.Thr1737Ser
ENST00000481478.1:c.4334C>G	ENSP00000418014.1:p.Thr1445Ser
NM_000720.3:c.5315C>G	NP_000711.1:p.Thr1772Ser
NM_001128839.2:c.5210C>G	NP_001122311.1:p.Thr1737Ser
NM_001128840.2:c.5255C>G	NP_001122312.1:p.Thr1752Ser
XM_005265448.2:c.5210C>G	XP_005265505.1:p.Thr1737Ser
XM_011534094.1:c.5510C>G	XP_011532396.1:p.Thr1837Ser
XM_011534095.1:c.5399C>G	XP_011532397.1:p.Thr1800Ser
XM_011534096.1:c.5321C>G	XP_011532398.1:p.Thr1774Ser
XM_011534097.1:c.4973C>G	XP_011532399.1:p.Thr1658Ser
XM_011534098.1:c.4973C>G	XP_011532400.1:p.Thr1658Ser
XM_011534099.1:c.4598C>G	XP_011532401.1:p.Thr1533Ser
XM_011534100.1:c.5405C>G	XP_011532402.1:p.Thr1802Ser
XM_005265448.3:c.5210C>G	XP_005265505.1:p.Thr1737Ser
XM_011534094.2:c.5510C>G	XP_011532396.1:p.Thr1837Ser
XM_011534096.2:c.5321C>G	XP_011532398.1:p.Thr1774Ser
XM_011534097.2:c.4973C>G	XP_011532399.1:p.Thr1658Ser
XM_011534099.2:c.4598C>G	XP_011532401.1:p.Thr1533Ser
XM_011534100.2:c.5405C>G	XP_011532402.1:p.Thr1802Ser
XM_017007137.1:c.5510C>G	XP_016862626.1:p.Thr1837Ser
XM_017007138.1:c.5507C>G	XP_016862627.1:p.Thr1836Ser
XM_017007139.1:c.5510C>G	XP_016862628.1:p.Thr1837Ser
XM_017007140.1:c.5450C>G	XP_016862629.1:p.Thr1817Ser
XM_017007141.1:c.5450C>G	XP_016862630.1:p.Thr1817Ser
XM_017007142.1:c.5426C>G	XP_016862631.1:p.Thr1809Ser
XM_017007143.1:c.5426C>G	XP_016862632.1:p.Thr1809Ser
XM_017007144.1:c.5426C>G	XP_016862633.1:p.Thr1809Ser
XM_017007145.1:c.5381C>G	XP_016862634.1:p.Thr1794Ser
NM_001128840.3:c.5255C>G MANE Select	NP_001122312.1:p.Thr1752Ser
NM_000720.4:c.5315C>G MANE Plus Clinical	NP_000711.1:p.Thr1772Ser
NM_001128839.3:c.5210C>G	NP_001122311.1:p.Thr1737Ser