Canonical Allele Identifier: CA1365484195

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801305T= , CM000665.2:g.53801305T=	GRCh38
NC_000003.11:g.53835332T= , CM000665.1:g.53835332T=	GRCh37
NC_000003.10:g.53810372T=	NCBI36
NG_032999.1:g.311257T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5348T=	ENSP00000418014.2:p.Met1783=
ENST00000636633.2:n.2287T=
ENST00000636999.2:n.723T=
ENST00000288139.11:c.5348T= MANE Plus Clinical	ENSP00000288139.3:p.Met1783=
ENST00000350061.11:c.5288T= MANE Select	ENSP00000288133.5:p.Met1763=
ENST00000422281.7:c.5243T=	ENSP00000409174.2:p.Met1748=
ENST00000636448.1:c.1409T=
ENST00000636570.1:c.5243T=	ENSP00000490183.1:p.Met1748=
ENST00000636629.1:n.644T=
ENST00000636633.1:n.2287T=
ENST00000636999.1:n.715T=
ENST00000637424.1:c.5315T=	ENSP00000489769.1:p.Met1772=
ENST00000637844.1:n.42T=
ENST00000288139.8:c.5348T=	ENSP00000288139.3:p.Met1783=
ENST00000350061.9:c.5288T=	ENSP00000288133.5:p.Met1763=
ENST00000422281.6:c.5243T=	ENSP00000409174.2:p.Met1748=
ENST00000481478.1:c.4367T=	ENSP00000418014.1:p.Met1456=
NM_000720.3:c.5348T=	NP_000711.1:p.Met1783=
NM_001128839.2:c.5243T=	NP_001122311.1:p.Met1748=
NM_001128840.2:c.5288T=	NP_001122312.1:p.Met1763=
XM_005265448.2:c.5243T=	XP_005265505.1:p.Met1748=
XM_011534094.1:c.5543T=	XP_011532396.1:p.Met1848=
XM_011534095.1:c.5432T=	XP_011532397.1:p.Met1811=
XM_011534096.1:c.5354T=	XP_011532398.1:p.Met1785=
XM_011534097.1:c.5006T=	XP_011532399.1:p.Met1669=
XM_011534098.1:c.5006T=	XP_011532400.1:p.Met1669=
XM_011534099.1:c.4631T=	XP_011532401.1:p.Met1544=
XM_011534100.1:c.5438T=	XP_011532402.1:p.Met1813=
XM_005265448.3:c.5243T=	XP_005265505.1:p.Met1748=
XM_011534094.2:c.5543T=	XP_011532396.1:p.Met1848=
XM_011534096.2:c.5354T=	XP_011532398.1:p.Met1785=
XM_011534097.2:c.5006T=	XP_011532399.1:p.Met1669=
XM_011534099.2:c.4631T=	XP_011532401.1:p.Met1544=
XM_011534100.2:c.5438T=	XP_011532402.1:p.Met1813=
XM_017007137.1:c.5543T=	XP_016862626.1:p.Met1848=
XM_017007138.1:c.5540T=	XP_016862627.1:p.Met1847=
XM_017007139.1:c.5543T=	XP_016862628.1:p.Met1848=
XM_017007140.1:c.5483T=	XP_016862629.1:p.Met1828=
XM_017007141.1:c.5483T=	XP_016862630.1:p.Met1828=
XM_017007142.1:c.5459T=	XP_016862631.1:p.Met1820=
XM_017007143.1:c.5459T=	XP_016862632.1:p.Met1820=
XM_017007144.1:c.5459T=	XP_016862633.1:p.Met1820=
XM_017007145.1:c.5414T=	XP_016862634.1:p.Met1805=
NM_001128840.3:c.5288T= MANE Select	NP_001122312.1:p.Met1763=
NM_000720.4:c.5348T= MANE Plus Clinical	NP_000711.1:p.Met1783=
NM_001128839.3:c.5243T=	NP_001122311.1:p.Met1748=