Canonical Allele Identifier: CA353251057

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835356G>T (hg19) ; chr3:g.53801329G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801329G>T , CM000665.2:g.53801329G>T	GRCh38
NC_000003.11:g.53835356G>T , CM000665.1:g.53835356G>T	GRCh37
NC_000003.10:g.53810396G>T	NCBI36
NG_032999.1:g.311281G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5372G>T	ENSP00000418014.2:p.Arg1791Leu
ENST00000636633.2:n.2311G>T
ENST00000636999.2:n.747G>T
ENST00000288139.11:c.5372G>T MANE Plus Clinical	ENSP00000288139.3:p.Arg1791Leu
ENST00000350061.11:c.5312G>T MANE Select	ENSP00000288133.5:p.Arg1771Leu
ENST00000422281.7:c.5267G>T	ENSP00000409174.2:p.Arg1756Leu
ENST00000636448.1:c.1433G>T
ENST00000636570.1:c.5267G>T	ENSP00000490183.1:p.Arg1756Leu
ENST00000636629.1:n.668G>T
ENST00000636633.1:n.2311G>T
ENST00000636999.1:n.739G>T
ENST00000637424.1:c.5339G>T	ENSP00000489769.1:p.Arg1780Leu
ENST00000637844.1:n.66G>T
ENST00000288139.8:c.5372G>T	ENSP00000288139.3:p.Arg1791Leu
ENST00000350061.9:c.5312G>T	ENSP00000288133.5:p.Arg1771Leu
ENST00000422281.6:c.5267G>T	ENSP00000409174.2:p.Arg1756Leu
ENST00000481478.1:c.4391G>T	ENSP00000418014.1:p.Arg1464Leu
NM_000720.3:c.5372G>T	NP_000711.1:p.Arg1791Leu
NM_001128839.2:c.5267G>T	NP_001122311.1:p.Arg1756Leu
NM_001128840.2:c.5312G>T	NP_001122312.1:p.Arg1771Leu
XM_005265448.2:c.5267G>T	XP_005265505.1:p.Arg1756Leu
XM_011534094.1:c.5567G>T	XP_011532396.1:p.Arg1856Leu
XM_011534095.1:c.5456G>T	XP_011532397.1:p.Arg1819Leu
XM_011534096.1:c.5378G>T	XP_011532398.1:p.Arg1793Leu
XM_011534097.1:c.5030G>T	XP_011532399.1:p.Arg1677Leu
XM_011534098.1:c.5030G>T	XP_011532400.1:p.Arg1677Leu
XM_011534099.1:c.4655G>T	XP_011532401.1:p.Arg1552Leu
XM_011534100.1:c.5462G>T	XP_011532402.1:p.Arg1821Leu
XM_005265448.3:c.5267G>T	XP_005265505.1:p.Arg1756Leu
XM_011534094.2:c.5567G>T	XP_011532396.1:p.Arg1856Leu
XM_011534096.2:c.5378G>T	XP_011532398.1:p.Arg1793Leu
XM_011534097.2:c.5030G>T	XP_011532399.1:p.Arg1677Leu
XM_011534099.2:c.4655G>T	XP_011532401.1:p.Arg1552Leu
XM_011534100.2:c.5462G>T	XP_011532402.1:p.Arg1821Leu
XM_017007137.1:c.5567G>T	XP_016862626.1:p.Arg1856Leu
XM_017007138.1:c.5564G>T	XP_016862627.1:p.Arg1855Leu
XM_017007139.1:c.5567G>T	XP_016862628.1:p.Arg1856Leu
XM_017007140.1:c.5507G>T	XP_016862629.1:p.Arg1836Leu
XM_017007141.1:c.5507G>T	XP_016862630.1:p.Arg1836Leu
XM_017007142.1:c.5483G>T	XP_016862631.1:p.Arg1828Leu
XM_017007143.1:c.5483G>T	XP_016862632.1:p.Arg1828Leu
XM_017007144.1:c.5483G>T	XP_016862633.1:p.Arg1828Leu
XM_017007145.1:c.5438G>T	XP_016862634.1:p.Arg1813Leu
NM_001128840.3:c.5312G>T MANE Select	NP_001122312.1:p.Arg1771Leu
NM_000720.4:c.5372G>T MANE Plus Clinical	NP_000711.1:p.Arg1791Leu
NM_001128839.3:c.5267G>T	NP_001122311.1:p.Arg1756Leu