Canonical Allele Identifier: CA2453593

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53495213A>G , CM000665.2:g.53495213A>G	GRCh38
NC_000003.11:g.53529240A>G , CM000665.1:g.53529240A>G	GRCh37
NC_000003.10:g.53504280A>G	NCBI36
NG_032999.1:g.5165A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001128840.3:c.47A>G MANE Select	NP_001122312.1:p.Gln16Arg
ENST00000350061.11:c.47A>G MANE Select	ENSP00000288133.5:p.Gln16Arg
NM_000720.4:c.47A>G MANE Plus Clinical	NP_000711.1:p.Gln16Arg
ENST00000288139.11:c.47A>G MANE Plus Clinical	ENSP00000288139.3:p.Gln16Arg
NM_000720.3:c.47A>G	NP_000711.1:p.Gln16Arg
NM_001128839.2:c.47A>G	NP_001122311.1:p.Gln16Arg
NM_001128839.3:c.47A>G	NP_001122311.1:p.Gln16Arg
NM_001128840.2:c.47A>G	NP_001122312.1:p.Gln16Arg
ENST00000288139.8:c.47A>G	ENSP00000288139.3:p.Gln16Arg
ENST00000350061.9:c.47A>G	ENSP00000288133.5:p.Gln16Arg
ENST00000422281.6:c.47A>G	ENSP00000409174.2:p.Gln16Arg
ENST00000422281.7:c.47A>G	ENSP00000409174.2:p.Gln16Arg
ENST00000481478.2:c.47A>G	ENSP00000418014.2:p.Gln16Arg
ENST00000636480.1:n.55A>G
ENST00000636570.1:c.47A>G	ENSP00000490183.1:p.Gln16Arg
ENST00000636627.2:c.47A>G	ENSP00000490889.2:p.Gln16Arg
ENST00000636938.1:c.47A>G	ENSP00000490039.1:p.Gln16Arg
ENST00000637424.1:c.140-1939A>G	ENSP00000489769.1:n.140-1939A>G
ENST00000640483.1:c.20A>G	ENSP00000491921.1:p.Gln7Arg
XM_005265448.2:c.47A>G	XP_005265505.1:p.Gln16Arg
XM_005265448.3:c.47A>G	XP_005265505.1:p.Gln16Arg
XM_011534095.1:c.47A>G	XP_011532397.1:p.Gln16Arg