Canonical Allele Identifier: CA353259394

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53845328C>A (hg19) ; chr3:g.53811301C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811301C>A , CM000665.2:g.53811301C>A	GRCh38
NC_000003.11:g.53845328C>A , CM000665.1:g.53845328C>A	GRCh37
NC_000003.10:g.53820368C>A	NCBI36
NG_032999.1:g.321253C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6441C>A	ENSP00000418014.2:p.Asp2147Glu
ENST00000636581.2:n.1770C>A
ENST00000636633.2:n.3380C>A
ENST00000636999.2:n.1816C>A
ENST00000288139.11:c.6441C>A MANE Plus Clinical	ENSP00000288139.3:p.Asp2147Glu
ENST00000350061.11:c.6381C>A MANE Select	ENSP00000288133.5:p.Asp2127Glu
ENST00000422281.7:c.6309C>A	ENSP00000409174.2:p.Asp2103Glu
ENST00000636448.1:c.2502C>A
ENST00000636570.1:c.6336C>A	ENSP00000490183.1:p.Asp2112Glu
ENST00000636581.1:n.1770C>A
ENST00000636633.1:n.3380C>A
ENST00000636999.1:n.1808C>A
ENST00000637424.1:c.6408C>A	ENSP00000489769.1:p.Asp2136Glu
ENST00000288139.8:c.6441C>A	ENSP00000288139.3:p.Asp2147Glu
ENST00000350061.9:c.6381C>A	ENSP00000288133.5:p.Asp2127Glu
ENST00000422281.6:c.6309C>A	ENSP00000409174.2:p.Asp2103Glu
ENST00000481478.1:c.5460C>A	ENSP00000418014.1:p.Asp1820Glu
NM_000720.3:c.6441C>A	NP_000711.1:p.Asp2147Glu
NM_001128839.2:c.6309C>A	NP_001122311.1:p.Asp2103Glu
NM_001128840.2:c.6381C>A	NP_001122312.1:p.Asp2127Glu
XM_005265448.2:c.6336C>A	XP_005265505.1:p.Asp2112Glu
XM_011534094.1:c.6636C>A	XP_011532396.1:p.Asp2212Glu
XM_011534095.1:c.6525C>A	XP_011532397.1:p.Asp2175Glu
XM_011534096.1:c.6447C>A	XP_011532398.1:p.Asp2149Glu
XM_011534097.1:c.6099C>A	XP_011532399.1:p.Asp2033Glu
XM_011534098.1:c.6099C>A	XP_011532400.1:p.Asp2033Glu
XM_011534099.1:c.5724C>A	XP_011532401.1:p.Asp1908Glu
XM_011534100.1:c.6531C>A	XP_011532402.1:p.Asp2177Glu
XM_005265448.3:c.6336C>A	XP_005265505.1:p.Asp2112Glu
XM_011534094.2:c.6636C>A	XP_011532396.1:p.Asp2212Glu
XM_011534096.2:c.6447C>A	XP_011532398.1:p.Asp2149Glu
XM_011534097.2:c.6099C>A	XP_011532399.1:p.Asp2033Glu
XM_011534099.2:c.5724C>A	XP_011532401.1:p.Asp1908Glu
XM_011534100.2:c.6531C>A	XP_011532402.1:p.Asp2177Glu
XM_017007137.1:c.6636C>A	XP_016862626.1:p.Asp2212Glu
XM_017007138.1:c.6633C>A	XP_016862627.1:p.Asp2211Glu
XM_017007139.1:c.6609C>A	XP_016862628.1:p.Asp2203Glu
XM_017007140.1:c.6576C>A	XP_016862629.1:p.Asp2192Glu
XM_017007141.1:c.6576C>A	XP_016862630.1:p.Asp2192Glu
XM_017007142.1:c.6552C>A	XP_016862631.1:p.Asp2184Glu
XM_017007143.1:c.6552C>A	XP_016862632.1:p.Asp2184Glu
XM_017007144.1:c.6552C>A	XP_016862633.1:p.Asp2184Glu
XM_017007145.1:c.6507C>A	XP_016862634.1:p.Asp2169Glu
NM_001128840.3:c.6381C>A MANE Select	NP_001122312.1:p.Asp2127Glu
NM_000720.4:c.6441C>A MANE Plus Clinical	NP_000711.1:p.Asp2147Glu
NM_001128839.3:c.6309C>A	NP_001122311.1:p.Asp2103Glu