Canonical Allele Identifier: CA1720999277

Gene: CACNA2D1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974484A= , CM000669.2:g.81974484A=	GRCh38
NC_000007.13:g.81603800A= , CM000669.1:g.81603800A=	GRCh37
NC_000007.12:g.81441736A=	NCBI36
NG_009358.2:g.474232T= , LRG_437:g.474232T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443883.2:c.2060T=	ENSP00000409374.2:p.Ile687=
ENST00000705961.1:c.1791T=
ENST00000705962.1:c.1904T=	ENSP00000516190.1:p.Ile635=
ENST00000356860.8:c.2024T= MANE Select	ENSP00000349320.3:p.Ile675=
ENST00000356253.9:c.2060T=	ENSP00000348589.5:p.Ile687=
ENST00000356860.7:c.2024T=	ENSP00000349320.3:p.Ile675=
ENST00000443883.1:c.556T=
NM_000722.3:c.2024T=	NP_000713.2:p.Ile675=
XM_005250570.1:c.2060T=	XP_005250627.1:p.Ile687=
XM_005250572.1:c.2009T=	XP_005250629.1:p.Ile670=
XM_005250573.1:c.2003T=	XP_005250630.1:p.Ile668=
XM_005250574.1:c.1988T=	XP_005250631.1:p.Ile663=
XM_006716118.1:c.2081T=	XP_006716181.1:p.Ile694=
XM_006716119.2:c.2006T=	XP_006716182.1:p.Ile669=
XM_006716120.2:c.1964T=	XP_006716183.1:p.Ile655=
XM_006716121.2:c.491T=	XP_006716184.1:p.Ile164=
XM_011516570.1:c.2081T=	XP_011514872.1:p.Ile694=
XM_011516571.1:c.2066T=	XP_011514873.1:p.Ile689=
XM_011516572.1:c.2045T=	XP_011514874.1:p.Ile682=
XM_011516573.1:c.1850T=	XP_011514875.1:p.Ile617=
NM_001366867.1:c.2060T=	NP_001353796.1:p.Ile687=
XM_005250572.3:c.2009T=	XP_005250629.1:p.Ile670=
XM_005250573.3:c.2003T=	XP_005250630.1:p.Ile668=
XM_005250574.3:c.1988T=	XP_005250631.1:p.Ile663=
XM_006716118.3:c.2081T=	XP_006716181.1:p.Ile694=
XM_006716119.3:c.2006T=	XP_006716182.1:p.Ile669=
XM_006716120.3:c.1964T=	XP_006716183.1:p.Ile655=
XM_006716121.3:c.491T=	XP_006716184.1:p.Ile164=
XM_011516570.3:c.2081T=	XP_011514872.1:p.Ile694=
XM_011516571.3:c.2066T=	XP_011514873.1:p.Ile689=
XM_011516572.3:c.2045T=	XP_011514874.1:p.Ile682=
XM_017012588.1:c.1907T=	XP_016868077.1:p.Ile636=
XR_001744873.2:n.2101T=
XR_001744874.2:n.2008T=
NM_000722.4:c.2024T= MANE Select	NP_000713.2:p.Ile675=