Canonical Allele Identifier: CA353250896

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835317T>G (hg19) ; chr3:g.53801290T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801290T>G , CM000665.2:g.53801290T>G	GRCh38
NC_000003.11:g.53835317T>G , CM000665.1:g.53835317T>G	GRCh37
NC_000003.10:g.53810357T>G	NCBI36
NG_032999.1:g.311242T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5333T>G	ENSP00000418014.2:p.Leu1778Arg
ENST00000636633.2:n.2272T>G
ENST00000636999.2:n.708T>G
ENST00000288139.11:c.5333T>G MANE Plus Clinical	ENSP00000288139.3:p.Leu1778Arg
ENST00000350061.11:c.5273T>G MANE Select	ENSP00000288133.5:p.Leu1758Arg
ENST00000422281.7:c.5228T>G	ENSP00000409174.2:p.Leu1743Arg
ENST00000636448.1:c.1394T>G
ENST00000636570.1:c.5228T>G	ENSP00000490183.1:p.Leu1743Arg
ENST00000636629.1:n.629T>G
ENST00000636633.1:n.2272T>G
ENST00000636999.1:n.700T>G
ENST00000637424.1:c.5300T>G	ENSP00000489769.1:p.Leu1767Arg
ENST00000637844.1:n.27T>G
ENST00000288139.8:c.5333T>G	ENSP00000288139.3:p.Leu1778Arg
ENST00000350061.9:c.5273T>G	ENSP00000288133.5:p.Leu1758Arg
ENST00000422281.6:c.5228T>G	ENSP00000409174.2:p.Leu1743Arg
ENST00000481478.1:c.4352T>G	ENSP00000418014.1:p.Leu1451Arg
NM_000720.3:c.5333T>G	NP_000711.1:p.Leu1778Arg
NM_001128839.2:c.5228T>G	NP_001122311.1:p.Leu1743Arg
NM_001128840.2:c.5273T>G	NP_001122312.1:p.Leu1758Arg
XM_005265448.2:c.5228T>G	XP_005265505.1:p.Leu1743Arg
XM_011534094.1:c.5528T>G	XP_011532396.1:p.Leu1843Arg
XM_011534095.1:c.5417T>G	XP_011532397.1:p.Leu1806Arg
XM_011534096.1:c.5339T>G	XP_011532398.1:p.Leu1780Arg
XM_011534097.1:c.4991T>G	XP_011532399.1:p.Leu1664Arg
XM_011534098.1:c.4991T>G	XP_011532400.1:p.Leu1664Arg
XM_011534099.1:c.4616T>G	XP_011532401.1:p.Leu1539Arg
XM_011534100.1:c.5423T>G	XP_011532402.1:p.Leu1808Arg
XM_005265448.3:c.5228T>G	XP_005265505.1:p.Leu1743Arg
XM_011534094.2:c.5528T>G	XP_011532396.1:p.Leu1843Arg
XM_011534096.2:c.5339T>G	XP_011532398.1:p.Leu1780Arg
XM_011534097.2:c.4991T>G	XP_011532399.1:p.Leu1664Arg
XM_011534099.2:c.4616T>G	XP_011532401.1:p.Leu1539Arg
XM_011534100.2:c.5423T>G	XP_011532402.1:p.Leu1808Arg
XM_017007137.1:c.5528T>G	XP_016862626.1:p.Leu1843Arg
XM_017007138.1:c.5525T>G	XP_016862627.1:p.Leu1842Arg
XM_017007139.1:c.5528T>G	XP_016862628.1:p.Leu1843Arg
XM_017007140.1:c.5468T>G	XP_016862629.1:p.Leu1823Arg
XM_017007141.1:c.5468T>G	XP_016862630.1:p.Leu1823Arg
XM_017007142.1:c.5444T>G	XP_016862631.1:p.Leu1815Arg
XM_017007143.1:c.5444T>G	XP_016862632.1:p.Leu1815Arg
XM_017007144.1:c.5444T>G	XP_016862633.1:p.Leu1815Arg
XM_017007145.1:c.5399T>G	XP_016862634.1:p.Leu1800Arg
NM_001128840.3:c.5273T>G MANE Select	NP_001122312.1:p.Leu1758Arg
NM_000720.4:c.5333T>G MANE Plus Clinical	NP_000711.1:p.Leu1778Arg
NM_001128839.3:c.5228T>G	NP_001122311.1:p.Leu1743Arg