Canonical Allele Identifier: CA367892569

Gene: CACNA2D1

Linked Data

• MyVariant Identifiers: chr7:g.81603788G>A (hg19) ; chr7:g.81974472G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974472G>A , CM000669.2:g.81974472G>A	GRCh38
NC_000007.13:g.81603788G>A , CM000669.1:g.81603788G>A	GRCh37
NC_000007.12:g.81441724G>A	NCBI36
NG_009358.2:g.474244C>T , LRG_437:g.474244C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.2072C>T	ENSP00000409374.2:p.Thr691Ile
ENST00000705961.1:c.1803C>T
ENST00000705962.1:c.1916C>T	ENSP00000516190.1:p.Thr639Ile
ENST00000356860.8:c.2036C>T MANE Select	ENSP00000349320.3:p.Thr679Ile
ENST00000356253.9:c.2072C>T	ENSP00000348589.5:p.Thr691Ile
ENST00000356860.7:c.2036C>T	ENSP00000349320.3:p.Thr679Ile
ENST00000443883.1:c.568C>T
NM_000722.3:c.2036C>T	NP_000713.2:p.Thr679Ile
XM_005250570.1:c.2072C>T	XP_005250627.1:p.Thr691Ile
XM_005250572.1:c.2021C>T	XP_005250629.1:p.Thr674Ile
XM_005250573.1:c.2015C>T	XP_005250630.1:p.Thr672Ile
XM_005250574.1:c.2000C>T	XP_005250631.1:p.Thr667Ile
XM_006716118.1:c.2093C>T	XP_006716181.1:p.Thr698Ile
XM_006716119.2:c.2018C>T	XP_006716182.1:p.Thr673Ile
XM_006716120.2:c.1976C>T	XP_006716183.1:p.Thr659Ile
XM_006716121.2:c.503C>T	XP_006716184.1:p.Thr168Ile
XM_011516570.1:c.2093C>T	XP_011514872.1:p.Thr698Ile
XM_011516571.1:c.2078C>T	XP_011514873.1:p.Thr693Ile
XM_011516572.1:c.2057C>T	XP_011514874.1:p.Thr686Ile
XM_011516573.1:c.1862C>T	XP_011514875.1:p.Thr621Ile
NM_001366867.1:c.2072C>T	NP_001353796.1:p.Thr691Ile
XM_005250572.3:c.2021C>T	XP_005250629.1:p.Thr674Ile
XM_005250573.3:c.2015C>T	XP_005250630.1:p.Thr672Ile
XM_005250574.3:c.2000C>T	XP_005250631.1:p.Thr667Ile
XM_006716118.3:c.2093C>T	XP_006716181.1:p.Thr698Ile
XM_006716119.3:c.2018C>T	XP_006716182.1:p.Thr673Ile
XM_006716120.3:c.1976C>T	XP_006716183.1:p.Thr659Ile
XM_006716121.3:c.503C>T	XP_006716184.1:p.Thr168Ile
XM_011516570.3:c.2093C>T	XP_011514872.1:p.Thr698Ile
XM_011516571.3:c.2078C>T	XP_011514873.1:p.Thr693Ile
XM_011516572.3:c.2057C>T	XP_011514874.1:p.Thr686Ile
XM_017012588.1:c.1919C>T	XP_016868077.1:p.Thr640Ile
XR_001744873.2:n.2113C>T
XR_001744874.2:n.2020C>T
NM_000722.4:c.2036C>T MANE Select	NP_000713.2:p.Thr679Ile