Canonical Allele Identifier: CA353250192

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835199C>A (hg19) ; chr3:g.53801172C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801172C>A , CM000665.2:g.53801172C>A	GRCh38
NC_000003.11:g.53835199C>A , CM000665.1:g.53835199C>A	GRCh37
NC_000003.10:g.53810239C>A	NCBI36
NG_032999.1:g.311124C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5215C>A	ENSP00000418014.2:p.Pro1739Thr
ENST00000636633.2:n.2194-40C>A
ENST00000636999.2:n.590C>A
ENST00000288139.11:c.5215C>A MANE Plus Clinical	ENSP00000288139.3:p.Pro1739Thr
ENST00000350061.11:c.5155C>A MANE Select	ENSP00000288133.5:p.Pro1719Thr
ENST00000422281.7:c.5110C>A	ENSP00000409174.2:p.Pro1704Thr
ENST00000636448.1:c.1316-40C>A
ENST00000636570.1:c.5110C>A	ENSP00000490183.1:p.Pro1704Thr
ENST00000636629.1:n.511C>A
ENST00000636633.1:n.2194-40C>A
ENST00000636999.1:n.582C>A
ENST00000637424.1:c.5182C>A	ENSP00000489769.1:p.Pro1728Thr
ENST00000288139.8:c.5215C>A	ENSP00000288139.3:p.Pro1739Thr
ENST00000350061.9:c.5155C>A	ENSP00000288133.5:p.Pro1719Thr
ENST00000422281.6:c.5110C>A	ENSP00000409174.2:p.Pro1704Thr
ENST00000481478.1:c.4234C>A	ENSP00000418014.1:p.Pro1412Thr
NM_000720.3:c.5215C>A	NP_000711.1:p.Pro1739Thr
NM_001128839.2:c.5110C>A	NP_001122311.1:p.Pro1704Thr
NM_001128840.2:c.5155C>A	NP_001122312.1:p.Pro1719Thr
XM_005265448.2:c.5110C>A	XP_005265505.1:p.Pro1704Thr
XM_011534094.1:c.5410C>A	XP_011532396.1:p.Pro1804Thr
XM_011534095.1:c.5299C>A	XP_011532397.1:p.Pro1767Thr
XM_011534096.1:c.5221C>A	XP_011532398.1:p.Pro1741Thr
XM_011534097.1:c.4873C>A	XP_011532399.1:p.Pro1625Thr
XM_011534098.1:c.4873C>A	XP_011532400.1:p.Pro1625Thr
XM_011534099.1:c.4498C>A	XP_011532401.1:p.Pro1500Thr
XM_011534100.1:c.5305C>A	XP_011532402.1:p.Pro1769Thr
XM_005265448.3:c.5110C>A	XP_005265505.1:p.Pro1704Thr
XM_011534094.2:c.5410C>A	XP_011532396.1:p.Pro1804Thr
XM_011534096.2:c.5221C>A	XP_011532398.1:p.Pro1741Thr
XM_011534097.2:c.4873C>A	XP_011532399.1:p.Pro1625Thr
XM_011534099.2:c.4498C>A	XP_011532401.1:p.Pro1500Thr
XM_011534100.2:c.5305C>A	XP_011532402.1:p.Pro1769Thr
XM_017007137.1:c.5410C>A	XP_016862626.1:p.Pro1804Thr
XM_017007138.1:c.5407C>A	XP_016862627.1:p.Pro1803Thr
XM_017007139.1:c.5410C>A	XP_016862628.1:p.Pro1804Thr
XM_017007140.1:c.5350C>A	XP_016862629.1:p.Pro1784Thr
XM_017007141.1:c.5350C>A	XP_016862630.1:p.Pro1784Thr
XM_017007142.1:c.5326C>A	XP_016862631.1:p.Pro1776Thr
XM_017007143.1:c.5326C>A	XP_016862632.1:p.Pro1776Thr
XM_017007144.1:c.5326C>A	XP_016862633.1:p.Pro1776Thr
XM_017007145.1:c.5281C>A	XP_016862634.1:p.Pro1761Thr
NM_001128840.3:c.5155C>A MANE Select	NP_001122312.1:p.Pro1719Thr
NM_000720.4:c.5215C>A MANE Plus Clinical	NP_000711.1:p.Pro1739Thr
NM_001128839.3:c.5110C>A	NP_001122311.1:p.Pro1704Thr