Canonical Allele Identifier: CA353259617

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53845364C>A (hg19) ; chr3:g.53811337C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811337C>A , CM000665.2:g.53811337C>A	GRCh38
NC_000003.11:g.53845364C>A , CM000665.1:g.53845364C>A	GRCh37
NC_000003.10:g.53820404C>A	NCBI36
NG_032999.1:g.321289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6477C>A	ENSP00000418014.2:p.Asp2159Glu
ENST00000636581.2:n.1806C>A
ENST00000636633.2:n.3416C>A
ENST00000636999.2:n.1852C>A
ENST00000288139.11:c.6477C>A MANE Plus Clinical	ENSP00000288139.3:p.Asp2159Glu
ENST00000350061.11:c.6417C>A MANE Select	ENSP00000288133.5:p.Asp2139Glu
ENST00000422281.7:c.6345C>A	ENSP00000409174.2:p.Asp2115Glu
ENST00000636448.1:c.2538C>A
ENST00000636570.1:c.6372C>A	ENSP00000490183.1:p.Asp2124Glu
ENST00000636581.1:n.1806C>A
ENST00000636633.1:n.3416C>A
ENST00000636999.1:n.1844C>A
ENST00000637424.1:c.6444C>A	ENSP00000489769.1:p.Asp2148Glu
ENST00000288139.8:c.6477C>A	ENSP00000288139.3:p.Asp2159Glu
ENST00000350061.9:c.6417C>A	ENSP00000288133.5:p.Asp2139Glu
ENST00000422281.6:c.6345C>A	ENSP00000409174.2:p.Asp2115Glu
ENST00000481478.1:c.5496C>A	ENSP00000418014.1:p.Asp1832Glu
NM_000720.3:c.6477C>A	NP_000711.1:p.Asp2159Glu
NM_001128839.2:c.6345C>A	NP_001122311.1:p.Asp2115Glu
NM_001128840.2:c.6417C>A	NP_001122312.1:p.Asp2139Glu
XM_005265448.2:c.6372C>A	XP_005265505.1:p.Asp2124Glu
XM_011534094.1:c.6672C>A	XP_011532396.1:p.Asp2224Glu
XM_011534095.1:c.6561C>A	XP_011532397.1:p.Asp2187Glu
XM_011534096.1:c.6483C>A	XP_011532398.1:p.Asp2161Glu
XM_011534097.1:c.6135C>A	XP_011532399.1:p.Asp2045Glu
XM_011534098.1:c.6135C>A	XP_011532400.1:p.Asp2045Glu
XM_011534099.1:c.5760C>A	XP_011532401.1:p.Asp1920Glu
XM_011534100.1:c.6567C>A	XP_011532402.1:p.Asp2189Glu
XM_005265448.3:c.6372C>A	XP_005265505.1:p.Asp2124Glu
XM_011534094.2:c.6672C>A	XP_011532396.1:p.Asp2224Glu
XM_011534096.2:c.6483C>A	XP_011532398.1:p.Asp2161Glu
XM_011534097.2:c.6135C>A	XP_011532399.1:p.Asp2045Glu
XM_011534099.2:c.5760C>A	XP_011532401.1:p.Asp1920Glu
XM_011534100.2:c.6567C>A	XP_011532402.1:p.Asp2189Glu
XM_017007137.1:c.6672C>A	XP_016862626.1:p.Asp2224Glu
XM_017007138.1:c.6669C>A	XP_016862627.1:p.Asp2223Glu
XM_017007139.1:c.6645C>A	XP_016862628.1:p.Asp2215Glu
XM_017007140.1:c.6612C>A	XP_016862629.1:p.Asp2204Glu
XM_017007141.1:c.6612C>A	XP_016862630.1:p.Asp2204Glu
XM_017007142.1:c.6588C>A	XP_016862631.1:p.Asp2196Glu
XM_017007143.1:c.6588C>A	XP_016862632.1:p.Asp2196Glu
XM_017007144.1:c.6588C>A	XP_016862633.1:p.Asp2196Glu
XM_017007145.1:c.6543C>A	XP_016862634.1:p.Asp2181Glu
NM_001128840.3:c.6417C>A MANE Select	NP_001122312.1:p.Asp2139Glu
NM_000720.4:c.6477C>A MANE Plus Clinical	NP_000711.1:p.Asp2159Glu
NM_001128839.3:c.6345C>A	NP_001122311.1:p.Asp2115Glu