Canonical Allele Identifier: CA353259300

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53845297G>T (hg19) ; chr3:g.53811270G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811270G>T , CM000665.2:g.53811270G>T	GRCh38
NC_000003.11:g.53845297G>T , CM000665.1:g.53845297G>T	GRCh37
NC_000003.10:g.53820337G>T	NCBI36
NG_032999.1:g.321222G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6410G>T	ENSP00000418014.2:p.Gly2137Val
ENST00000636581.2:n.1739G>T
ENST00000636633.2:n.3349G>T
ENST00000636999.2:n.1785G>T
ENST00000288139.11:c.6410G>T MANE Plus Clinical	ENSP00000288139.3:p.Gly2137Val
ENST00000350061.11:c.6350G>T MANE Select	ENSP00000288133.5:p.Gly2117Val
ENST00000422281.7:c.6278G>T	ENSP00000409174.2:p.Gly2093Val
ENST00000636448.1:c.2471G>T
ENST00000636570.1:c.6305G>T	ENSP00000490183.1:p.Gly2102Val
ENST00000636581.1:n.1739G>T
ENST00000636629.1:n.1722G>T
ENST00000636633.1:n.3349G>T
ENST00000636999.1:n.1777G>T
ENST00000637424.1:c.6377G>T	ENSP00000489769.1:p.Gly2126Val
ENST00000288139.8:c.6410G>T	ENSP00000288139.3:p.Gly2137Val
ENST00000350061.9:c.6350G>T	ENSP00000288133.5:p.Gly2117Val
ENST00000422281.6:c.6278G>T	ENSP00000409174.2:p.Gly2093Val
ENST00000481478.1:c.5429G>T	ENSP00000418014.1:p.Gly1810Val
NM_000720.3:c.6410G>T	NP_000711.1:p.Gly2137Val
NM_001128839.2:c.6278G>T	NP_001122311.1:p.Gly2093Val
NM_001128840.2:c.6350G>T	NP_001122312.1:p.Gly2117Val
XM_005265448.2:c.6305G>T	XP_005265505.1:p.Gly2102Val
XM_011534094.1:c.6605G>T	XP_011532396.1:p.Gly2202Val
XM_011534095.1:c.6494G>T	XP_011532397.1:p.Gly2165Val
XM_011534096.1:c.6416G>T	XP_011532398.1:p.Gly2139Val
XM_011534097.1:c.6068G>T	XP_011532399.1:p.Gly2023Val
XM_011534098.1:c.6068G>T	XP_011532400.1:p.Gly2023Val
XM_011534099.1:c.5693G>T	XP_011532401.1:p.Gly1898Val
XM_011534100.1:c.6500G>T	XP_011532402.1:p.Gly2167Val
XM_005265448.3:c.6305G>T	XP_005265505.1:p.Gly2102Val
XM_011534094.2:c.6605G>T	XP_011532396.1:p.Gly2202Val
XM_011534096.2:c.6416G>T	XP_011532398.1:p.Gly2139Val
XM_011534097.2:c.6068G>T	XP_011532399.1:p.Gly2023Val
XM_011534099.2:c.5693G>T	XP_011532401.1:p.Gly1898Val
XM_011534100.2:c.6500G>T	XP_011532402.1:p.Gly2167Val
XM_017007137.1:c.6605G>T	XP_016862626.1:p.Gly2202Val
XM_017007138.1:c.6602G>T	XP_016862627.1:p.Gly2201Val
XM_017007139.1:c.6578G>T	XP_016862628.1:p.Gly2193Val
XM_017007140.1:c.6545G>T	XP_016862629.1:p.Gly2182Val
XM_017007141.1:c.6545G>T	XP_016862630.1:p.Gly2182Val
XM_017007142.1:c.6521G>T	XP_016862631.1:p.Gly2174Val
XM_017007143.1:c.6521G>T	XP_016862632.1:p.Gly2174Val
XM_017007144.1:c.6521G>T	XP_016862633.1:p.Gly2174Val
XM_017007145.1:c.6476G>T	XP_016862634.1:p.Gly2159Val
NM_001128840.3:c.6350G>T MANE Select	NP_001122312.1:p.Gly2117Val
NM_000720.4:c.6410G>T MANE Plus Clinical	NP_000711.1:p.Gly2137Val
NM_001128839.3:c.6278G>T	NP_001122311.1:p.Gly2093Val