Canonical Allele Identifier: CA367892579

Gene: CACNA2D1

Linked Data

• MyVariant Identifiers: chr7:g.81603791T>A (hg19) ; chr7:g.81974475T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974475T>A , CM000669.2:g.81974475T>A	GRCh38
NC_000007.13:g.81603791T>A , CM000669.1:g.81603791T>A	GRCh37
NC_000007.12:g.81441727T>A	NCBI36
NG_009358.2:g.474241A>T , LRG_437:g.474241A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.2069A>T	ENSP00000409374.2:p.Lys690Ile
ENST00000705961.1:c.1800A>T
ENST00000705962.1:c.1913A>T	ENSP00000516190.1:p.Lys638Ile
ENST00000356860.8:c.2033A>T MANE Select	ENSP00000349320.3:p.Lys678Ile
ENST00000356253.9:c.2069A>T	ENSP00000348589.5:p.Lys690Ile
ENST00000356860.7:c.2033A>T	ENSP00000349320.3:p.Lys678Ile
ENST00000443883.1:c.565A>T
NM_000722.3:c.2033A>T	NP_000713.2:p.Lys678Ile
XM_005250570.1:c.2069A>T	XP_005250627.1:p.Lys690Ile
XM_005250572.1:c.2018A>T	XP_005250629.1:p.Lys673Ile
XM_005250573.1:c.2012A>T	XP_005250630.1:p.Lys671Ile
XM_005250574.1:c.1997A>T	XP_005250631.1:p.Lys666Ile
XM_006716118.1:c.2090A>T	XP_006716181.1:p.Lys697Ile
XM_006716119.2:c.2015A>T	XP_006716182.1:p.Lys672Ile
XM_006716120.2:c.1973A>T	XP_006716183.1:p.Lys658Ile
XM_006716121.2:c.500A>T	XP_006716184.1:p.Lys167Ile
XM_011516570.1:c.2090A>T	XP_011514872.1:p.Lys697Ile
XM_011516571.1:c.2075A>T	XP_011514873.1:p.Lys692Ile
XM_011516572.1:c.2054A>T	XP_011514874.1:p.Lys685Ile
XM_011516573.1:c.1859A>T	XP_011514875.1:p.Lys620Ile
NM_001366867.1:c.2069A>T	NP_001353796.1:p.Lys690Ile
XM_005250572.3:c.2018A>T	XP_005250629.1:p.Lys673Ile
XM_005250573.3:c.2012A>T	XP_005250630.1:p.Lys671Ile
XM_005250574.3:c.1997A>T	XP_005250631.1:p.Lys666Ile
XM_006716118.3:c.2090A>T	XP_006716181.1:p.Lys697Ile
XM_006716119.3:c.2015A>T	XP_006716182.1:p.Lys672Ile
XM_006716120.3:c.1973A>T	XP_006716183.1:p.Lys658Ile
XM_006716121.3:c.500A>T	XP_006716184.1:p.Lys167Ile
XM_011516570.3:c.2090A>T	XP_011514872.1:p.Lys697Ile
XM_011516571.3:c.2075A>T	XP_011514873.1:p.Lys692Ile
XM_011516572.3:c.2054A>T	XP_011514874.1:p.Lys685Ile
XM_017012588.1:c.1916A>T	XP_016868077.1:p.Lys639Ile
XR_001744873.2:n.2110A>T
XR_001744874.2:n.2017A>T
NM_000722.4:c.2033A>T MANE Select	NP_000713.2:p.Lys678Ile