Canonical Allele Identifier: CA353384003

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53707746G>T (hg19) ; chr3:g.53673719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53673719G>T , CM000665.2:g.53673719G>T	GRCh38
NC_000003.11:g.53707746G>T , CM000665.1:g.53707746G>T	GRCh37
NC_000003.10:g.53682786G>T	NCBI36
NG_032999.1:g.183671G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000481478.2:c.1220+593G>T	ENSP00000418014.2:n.1220+593G>T
ENST00000636627.2:c.1123G>T	ENSP00000490889.2:p.Asp375Tyr
ENST00000288139.11:c.1123G>T MANE Plus Clinical	ENSP00000288139.3:p.Asp375Tyr
ENST00000350061.11:c.1220+593G>T MANE Select	ENSP00000288133.5:n.1220+593G>T
ENST00000422281.7:c.1220+593G>T	ENSP00000409174.2:n.1220+593G>T
ENST00000498251.2:n.66+593G>T
ENST00000636570.1:c.1123G>T	ENSP00000490183.1:p.Asp375Tyr
ENST00000636627.1:c.363G>T
ENST00000636938.1:c.1123G>T	ENSP00000490039.1:p.Asp375Tyr
ENST00000637424.1:c.1195G>T	ENSP00000489769.1:p.Asp399Tyr
ENST00000640483.1:c.1096G>T	ENSP00000491921.1:p.Asp366Tyr
ENST00000288139.8:c.1123G>T	ENSP00000288139.3:p.Asp375Tyr
ENST00000350061.9:c.1220+593G>T	ENSP00000288133.5:n.1220+593G>T
ENST00000422281.6:c.1220+593G>T	ENSP00000409174.2:n.1220+593G>T
ENST00000464429.1:n.165G>T
ENST00000481085.5:c.180G>T
ENST00000481478.1:c.239+593G>T	ENSP00000418014.1:n.239+593G>T
ENST00000498251.1:n.66+593G>T
NM_000720.3:c.1123G>T	NP_000711.1:p.Asp375Tyr
NM_001128839.2:c.1220+593G>T	NP_001122311.1:n.1220+593G>T
NM_001128840.2:c.1220+593G>T	NP_001122312.1:n.1220+593G>T
XM_005265448.2:c.1123G>T	XP_005265505.1:p.Asp375Tyr
XM_011534094.1:c.1331+593G>T	XP_011532396.1:n.1331+593G>T
XM_011534095.1:c.1123G>T	XP_011532397.1:p.Asp375Tyr
XM_011534096.1:c.1234G>T	XP_011532398.1:p.Asp412Tyr
XM_011534097.1:c.697G>T	XP_011532399.1:p.Asp233Tyr
XM_011534098.1:c.697G>T	XP_011532400.1:p.Asp233Tyr
XM_011534099.1:c.322G>T	XP_011532401.1:p.Asp108Tyr
XM_011534100.1:c.1234G>T	XP_011532402.1:p.Asp412Tyr
XM_005265448.3:c.1123G>T	XP_005265505.1:p.Asp375Tyr
XM_011534094.2:c.1331+593G>T	XP_011532396.1:n.1331+593G>T
XM_011534096.2:c.1234G>T	XP_011532398.1:p.Asp412Tyr
XM_011534097.2:c.697G>T	XP_011532399.1:p.Asp233Tyr
XM_011534099.2:c.322G>T	XP_011532401.1:p.Asp108Tyr
XM_011534100.2:c.1234G>T	XP_011532402.1:p.Asp412Tyr
XM_017007137.1:c.1234G>T	XP_016862626.1:p.Asp412Tyr
XM_017007138.1:c.1234G>T	XP_016862627.1:p.Asp412Tyr
XM_017007139.1:c.1234G>T	XP_016862628.1:p.Asp412Tyr
XM_017007140.1:c.1234G>T	XP_016862629.1:p.Asp412Tyr
XM_017007141.1:c.1331+593G>T	XP_016862630.1:n.1331+593G>T
XM_017007142.1:c.1234G>T	XP_016862631.1:p.Asp412Tyr
XM_017007143.1:c.1234G>T	XP_016862632.1:p.Asp412Tyr
XM_017007144.1:c.1331+593G>T	XP_016862633.1:n.1331+593G>T
XM_017007145.1:c.1234G>T	XP_016862634.1:p.Asp412Tyr
NM_001128840.3:c.1220+593G>T MANE Select	NP_001122312.1:n.1220+593G>T
NM_000720.4:c.1123G>T MANE Plus Clinical	NP_000711.1:p.Asp375Tyr
NM_001128839.3:c.1220+593G>T	NP_001122311.1:n.1220+593G>T