Canonical Allele Identifier: CA353250981

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835334T>G (hg19) ; chr3:g.53801307T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801307T>G , CM000665.2:g.53801307T>G	GRCh38
NC_000003.11:g.53835334T>G , CM000665.1:g.53835334T>G	GRCh37
NC_000003.10:g.53810374T>G	NCBI36
NG_032999.1:g.311259T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5350T>G	ENSP00000418014.2:p.Ser1784Ala
ENST00000636633.2:n.2289T>G
ENST00000636999.2:n.725T>G
ENST00000288139.11:c.5350T>G MANE Plus Clinical	ENSP00000288139.3:p.Ser1784Ala
ENST00000350061.11:c.5290T>G MANE Select	ENSP00000288133.5:p.Ser1764Ala
ENST00000422281.7:c.5245T>G	ENSP00000409174.2:p.Ser1749Ala
ENST00000636448.1:c.1411T>G
ENST00000636570.1:c.5245T>G	ENSP00000490183.1:p.Ser1749Ala
ENST00000636629.1:n.646T>G
ENST00000636633.1:n.2289T>G
ENST00000636999.1:n.717T>G
ENST00000637424.1:c.5317T>G	ENSP00000489769.1:p.Ser1773Ala
ENST00000637844.1:n.44T>G
ENST00000288139.8:c.5350T>G	ENSP00000288139.3:p.Ser1784Ala
ENST00000350061.9:c.5290T>G	ENSP00000288133.5:p.Ser1764Ala
ENST00000422281.6:c.5245T>G	ENSP00000409174.2:p.Ser1749Ala
ENST00000481478.1:c.4369T>G	ENSP00000418014.1:p.Ser1457Ala
NM_000720.3:c.5350T>G	NP_000711.1:p.Ser1784Ala
NM_001128839.2:c.5245T>G	NP_001122311.1:p.Ser1749Ala
NM_001128840.2:c.5290T>G	NP_001122312.1:p.Ser1764Ala
XM_005265448.2:c.5245T>G	XP_005265505.1:p.Ser1749Ala
XM_011534094.1:c.5545T>G	XP_011532396.1:p.Ser1849Ala
XM_011534095.1:c.5434T>G	XP_011532397.1:p.Ser1812Ala
XM_011534096.1:c.5356T>G	XP_011532398.1:p.Ser1786Ala
XM_011534097.1:c.5008T>G	XP_011532399.1:p.Ser1670Ala
XM_011534098.1:c.5008T>G	XP_011532400.1:p.Ser1670Ala
XM_011534099.1:c.4633T>G	XP_011532401.1:p.Ser1545Ala
XM_011534100.1:c.5440T>G	XP_011532402.1:p.Ser1814Ala
XM_005265448.3:c.5245T>G	XP_005265505.1:p.Ser1749Ala
XM_011534094.2:c.5545T>G	XP_011532396.1:p.Ser1849Ala
XM_011534096.2:c.5356T>G	XP_011532398.1:p.Ser1786Ala
XM_011534097.2:c.5008T>G	XP_011532399.1:p.Ser1670Ala
XM_011534099.2:c.4633T>G	XP_011532401.1:p.Ser1545Ala
XM_011534100.2:c.5440T>G	XP_011532402.1:p.Ser1814Ala
XM_017007137.1:c.5545T>G	XP_016862626.1:p.Ser1849Ala
XM_017007138.1:c.5542T>G	XP_016862627.1:p.Ser1848Ala
XM_017007139.1:c.5545T>G	XP_016862628.1:p.Ser1849Ala
XM_017007140.1:c.5485T>G	XP_016862629.1:p.Ser1829Ala
XM_017007141.1:c.5485T>G	XP_016862630.1:p.Ser1829Ala
XM_017007142.1:c.5461T>G	XP_016862631.1:p.Ser1821Ala
XM_017007143.1:c.5461T>G	XP_016862632.1:p.Ser1821Ala
XM_017007144.1:c.5461T>G	XP_016862633.1:p.Ser1821Ala
XM_017007145.1:c.5416T>G	XP_016862634.1:p.Ser1806Ala
NM_001128840.3:c.5290T>G MANE Select	NP_001122312.1:p.Ser1764Ala
NM_000720.4:c.5350T>G MANE Plus Clinical	NP_000711.1:p.Ser1784Ala
NM_001128839.3:c.5245T>G	NP_001122311.1:p.Ser1749Ala