Canonical Allele Identifier: CA353250967

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835332T>G (hg19) ; chr3:g.53801305T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5348T>G	ENSP00000418014.2:p.Met1783Arg
ENST00000636633.2:n.2287T>G
ENST00000636999.2:n.723T>G
ENST00000288139.11:c.5348T>G MANE Plus Clinical	ENSP00000288139.3:p.Met1783Arg
ENST00000350061.11:c.5288T>G MANE Select	ENSP00000288133.5:p.Met1763Arg
ENST00000422281.7:c.5243T>G	ENSP00000409174.2:p.Met1748Arg
ENST00000636448.1:c.1409T>G
ENST00000636570.1:c.5243T>G	ENSP00000490183.1:p.Met1748Arg
ENST00000636629.1:n.644T>G
ENST00000636633.1:n.2287T>G
ENST00000636999.1:n.715T>G
ENST00000637424.1:c.5315T>G	ENSP00000489769.1:p.Met1772Arg
ENST00000637844.1:n.42T>G
ENST00000288139.8:c.5348T>G	ENSP00000288139.3:p.Met1783Arg
ENST00000350061.9:c.5288T>G	ENSP00000288133.5:p.Met1763Arg
ENST00000422281.6:c.5243T>G	ENSP00000409174.2:p.Met1748Arg
ENST00000481478.1:c.4367T>G	ENSP00000418014.1:p.Met1456Arg
NM_000720.3:c.5348T>G	NP_000711.1:p.Met1783Arg
NM_001128839.2:c.5243T>G	NP_001122311.1:p.Met1748Arg
NM_001128840.2:c.5288T>G	NP_001122312.1:p.Met1763Arg
XM_005265448.2:c.5243T>G	XP_005265505.1:p.Met1748Arg
XM_011534094.1:c.5543T>G	XP_011532396.1:p.Met1848Arg
XM_011534095.1:c.5432T>G	XP_011532397.1:p.Met1811Arg
XM_011534096.1:c.5354T>G	XP_011532398.1:p.Met1785Arg
XM_011534097.1:c.5006T>G	XP_011532399.1:p.Met1669Arg
XM_011534098.1:c.5006T>G	XP_011532400.1:p.Met1669Arg
XM_011534099.1:c.4631T>G	XP_011532401.1:p.Met1544Arg
XM_011534100.1:c.5438T>G	XP_011532402.1:p.Met1813Arg
XM_005265448.3:c.5243T>G	XP_005265505.1:p.Met1748Arg
XM_011534094.2:c.5543T>G	XP_011532396.1:p.Met1848Arg
XM_011534096.2:c.5354T>G	XP_011532398.1:p.Met1785Arg
XM_011534097.2:c.5006T>G	XP_011532399.1:p.Met1669Arg
XM_011534099.2:c.4631T>G	XP_011532401.1:p.Met1544Arg
XM_011534100.2:c.5438T>G	XP_011532402.1:p.Met1813Arg
XM_017007137.1:c.5543T>G	XP_016862626.1:p.Met1848Arg
XM_017007138.1:c.5540T>G	XP_016862627.1:p.Met1847Arg
XM_017007139.1:c.5543T>G	XP_016862628.1:p.Met1848Arg
XM_017007140.1:c.5483T>G	XP_016862629.1:p.Met1828Arg
XM_017007141.1:c.5483T>G	XP_016862630.1:p.Met1828Arg
XM_017007142.1:c.5459T>G	XP_016862631.1:p.Met1820Arg
XM_017007143.1:c.5459T>G	XP_016862632.1:p.Met1820Arg
XM_017007144.1:c.5459T>G	XP_016862633.1:p.Met1820Arg
XM_017007145.1:c.5414T>G	XP_016862634.1:p.Met1805Arg
NM_001128840.3:c.5288T>G MANE Select	NP_001122312.1:p.Met1763Arg
NM_000720.4:c.5348T>G MANE Plus Clinical	NP_000711.1:p.Met1783Arg
NM_001128839.3:c.5243T>G	NP_001122311.1:p.Met1748Arg