Canonical Allele Identifier: CA353250984

Gene: CACNA1D

Linked Data

• dbSNP Id: rs2106780035
• MyVariant Identifiers: chr3:g.53835335C>A (hg19) ; chr3:g.53801308C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801308C>A , CM000665.2:g.53801308C>A	GRCh38
NC_000003.11:g.53835335C>A , CM000665.1:g.53835335C>A	GRCh37
NC_000003.10:g.53810375C>A	NCBI36
NG_032999.1:g.311260C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5351C>A	ENSP00000418014.2:p.Ser1784Tyr
ENST00000636633.2:n.2290C>A
ENST00000636999.2:n.726C>A
ENST00000288139.11:c.5351C>A MANE Plus Clinical	ENSP00000288139.3:p.Ser1784Tyr
ENST00000350061.11:c.5291C>A MANE Select	ENSP00000288133.5:p.Ser1764Tyr
ENST00000422281.7:c.5246C>A	ENSP00000409174.2:p.Ser1749Tyr
ENST00000636448.1:c.1412C>A
ENST00000636570.1:c.5246C>A	ENSP00000490183.1:p.Ser1749Tyr
ENST00000636629.1:n.647C>A
ENST00000636633.1:n.2290C>A
ENST00000636999.1:n.718C>A
ENST00000637424.1:c.5318C>A	ENSP00000489769.1:p.Ser1773Tyr
ENST00000637844.1:n.45C>A
ENST00000288139.8:c.5351C>A	ENSP00000288139.3:p.Ser1784Tyr
ENST00000350061.9:c.5291C>A	ENSP00000288133.5:p.Ser1764Tyr
ENST00000422281.6:c.5246C>A	ENSP00000409174.2:p.Ser1749Tyr
ENST00000481478.1:c.4370C>A	ENSP00000418014.1:p.Ser1457Tyr
NM_000720.3:c.5351C>A	NP_000711.1:p.Ser1784Tyr
NM_001128839.2:c.5246C>A	NP_001122311.1:p.Ser1749Tyr
NM_001128840.2:c.5291C>A	NP_001122312.1:p.Ser1764Tyr
XM_005265448.2:c.5246C>A	XP_005265505.1:p.Ser1749Tyr
XM_011534094.1:c.5546C>A	XP_011532396.1:p.Ser1849Tyr
XM_011534095.1:c.5435C>A	XP_011532397.1:p.Ser1812Tyr
XM_011534096.1:c.5357C>A	XP_011532398.1:p.Ser1786Tyr
XM_011534097.1:c.5009C>A	XP_011532399.1:p.Ser1670Tyr
XM_011534098.1:c.5009C>A	XP_011532400.1:p.Ser1670Tyr
XM_011534099.1:c.4634C>A	XP_011532401.1:p.Ser1545Tyr
XM_011534100.1:c.5441C>A	XP_011532402.1:p.Ser1814Tyr
XM_005265448.3:c.5246C>A	XP_005265505.1:p.Ser1749Tyr
XM_011534094.2:c.5546C>A	XP_011532396.1:p.Ser1849Tyr
XM_011534096.2:c.5357C>A	XP_011532398.1:p.Ser1786Tyr
XM_011534097.2:c.5009C>A	XP_011532399.1:p.Ser1670Tyr
XM_011534099.2:c.4634C>A	XP_011532401.1:p.Ser1545Tyr
XM_011534100.2:c.5441C>A	XP_011532402.1:p.Ser1814Tyr
XM_017007137.1:c.5546C>A	XP_016862626.1:p.Ser1849Tyr
XM_017007138.1:c.5543C>A	XP_016862627.1:p.Ser1848Tyr
XM_017007139.1:c.5546C>A	XP_016862628.1:p.Ser1849Tyr
XM_017007140.1:c.5486C>A	XP_016862629.1:p.Ser1829Tyr
XM_017007141.1:c.5486C>A	XP_016862630.1:p.Ser1829Tyr
XM_017007142.1:c.5462C>A	XP_016862631.1:p.Ser1821Tyr
XM_017007143.1:c.5462C>A	XP_016862632.1:p.Ser1821Tyr
XM_017007144.1:c.5462C>A	XP_016862633.1:p.Ser1821Tyr
XM_017007145.1:c.5417C>A	XP_016862634.1:p.Ser1806Tyr
NM_001128840.3:c.5291C>A MANE Select	NP_001122312.1:p.Ser1764Tyr
NM_000720.4:c.5351C>A MANE Plus Clinical	NP_000711.1:p.Ser1784Tyr
NM_001128839.3:c.5246C>A	NP_001122311.1:p.Ser1749Tyr