Canonical Allele Identifier: CA353250412

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835226C>A (hg19) ; chr3:g.53801199C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801199C>A , CM000665.2:g.53801199C>A	GRCh38
NC_000003.11:g.53835226C>A , CM000665.1:g.53835226C>A	GRCh37
NC_000003.10:g.53810266C>A	NCBI36
NG_032999.1:g.311151C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5242C>A	ENSP00000418014.2:p.Leu1748Met
ENST00000636633.2:n.2194-13C>A
ENST00000636999.2:n.617C>A
ENST00000288139.11:c.5242C>A MANE Plus Clinical	ENSP00000288139.3:p.Leu1748Met
ENST00000350061.11:c.5182C>A MANE Select	ENSP00000288133.5:p.Leu1728Met
ENST00000422281.7:c.5137C>A	ENSP00000409174.2:p.Leu1713Met
ENST00000636448.1:c.1316-13C>A
ENST00000636570.1:c.5137C>A	ENSP00000490183.1:p.Leu1713Met
ENST00000636629.1:n.538C>A
ENST00000636633.1:n.2194-13C>A
ENST00000636999.1:n.609C>A
ENST00000637424.1:c.5209C>A	ENSP00000489769.1:p.Leu1737Met
ENST00000288139.8:c.5242C>A	ENSP00000288139.3:p.Leu1748Met
ENST00000350061.9:c.5182C>A	ENSP00000288133.5:p.Leu1728Met
ENST00000422281.6:c.5137C>A	ENSP00000409174.2:p.Leu1713Met
ENST00000481478.1:c.4261C>A	ENSP00000418014.1:p.Leu1421Met
NM_000720.3:c.5242C>A	NP_000711.1:p.Leu1748Met
NM_001128839.2:c.5137C>A	NP_001122311.1:p.Leu1713Met
NM_001128840.2:c.5182C>A	NP_001122312.1:p.Leu1728Met
XM_005265448.2:c.5137C>A	XP_005265505.1:p.Leu1713Met
XM_011534094.1:c.5437C>A	XP_011532396.1:p.Leu1813Met
XM_011534095.1:c.5326C>A	XP_011532397.1:p.Leu1776Met
XM_011534096.1:c.5248C>A	XP_011532398.1:p.Leu1750Met
XM_011534097.1:c.4900C>A	XP_011532399.1:p.Leu1634Met
XM_011534098.1:c.4900C>A	XP_011532400.1:p.Leu1634Met
XM_011534099.1:c.4525C>A	XP_011532401.1:p.Leu1509Met
XM_011534100.1:c.5332C>A	XP_011532402.1:p.Leu1778Met
XM_005265448.3:c.5137C>A	XP_005265505.1:p.Leu1713Met
XM_011534094.2:c.5437C>A	XP_011532396.1:p.Leu1813Met
XM_011534096.2:c.5248C>A	XP_011532398.1:p.Leu1750Met
XM_011534097.2:c.4900C>A	XP_011532399.1:p.Leu1634Met
XM_011534099.2:c.4525C>A	XP_011532401.1:p.Leu1509Met
XM_011534100.2:c.5332C>A	XP_011532402.1:p.Leu1778Met
XM_017007137.1:c.5437C>A	XP_016862626.1:p.Leu1813Met
XM_017007138.1:c.5434C>A	XP_016862627.1:p.Leu1812Met
XM_017007139.1:c.5437C>A	XP_016862628.1:p.Leu1813Met
XM_017007140.1:c.5377C>A	XP_016862629.1:p.Leu1793Met
XM_017007141.1:c.5377C>A	XP_016862630.1:p.Leu1793Met
XM_017007142.1:c.5353C>A	XP_016862631.1:p.Leu1785Met
XM_017007143.1:c.5353C>A	XP_016862632.1:p.Leu1785Met
XM_017007144.1:c.5353C>A	XP_016862633.1:p.Leu1785Met
XM_017007145.1:c.5308C>A	XP_016862634.1:p.Leu1770Met
NM_001128840.3:c.5182C>A MANE Select	NP_001122312.1:p.Leu1728Met
NM_000720.4:c.5242C>A MANE Plus Clinical	NP_000711.1:p.Leu1748Met
NM_001128839.3:c.5137C>A	NP_001122311.1:p.Leu1713Met