Canonical Allele Identifier: CA12642292

Gene: CACNA2D1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81997040G>A , CM000669.2:g.81997040G>A	GRCh38
NC_000007.13:g.81626356G>A , CM000669.1:g.81626356G>A	GRCh37
NC_000007.12:g.81464292G>A	NCBI36
NG_009358.2:g.451676C>T , LRG_437:g.451676C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000722.4:c.1662+139C>T MANE Select	NP_000713.2:n.1662+139C>T
ENST00000356860.8:c.1662+139C>T MANE Select	ENSP00000349320.3:n.1662+139C>T
NM_000722.3:c.1662+139C>T	NP_000713.2:n.1662+139C>T
NM_001366867.1:c.1719+139C>T	NP_001353796.1:n.1719+139C>T
ENST00000356253.9:c.1719+139C>T	ENSP00000348589.5:n.1719+139C>T
ENST00000356860.7:c.1662+139C>T	ENSP00000349320.3:n.1662+139C>T
ENST00000443883.1:c.215+139C>T
ENST00000443883.2:c.1719+139C>T	ENSP00000409374.2:n.1719+139C>T
ENST00000705961.1:c.1429+139C>T
ENST00000705962.1:c.1563+139C>T	ENSP00000516190.1:n.1563+139C>T
XM_005250570.1:c.1719+139C>T	XP_005250627.1:n.1719+139C>T
XM_005250572.1:c.1647+139C>T	XP_005250629.1:n.1647+139C>T
XM_005250572.3:c.1647+139C>T	XP_005250629.1:n.1647+139C>T
XM_005250573.1:c.1662+139C>T	XP_005250630.1:n.1662+139C>T
XM_005250573.3:c.1662+139C>T	XP_005250630.1:n.1662+139C>T
XM_005250574.1:c.1647+139C>T	XP_005250631.1:n.1647+139C>T
XM_005250574.3:c.1647+139C>T	XP_005250631.1:n.1647+139C>T
XM_006716118.1:c.1719+139C>T	XP_006716181.1:n.1719+139C>T
XM_006716118.3:c.1719+139C>T	XP_006716181.1:n.1719+139C>T
XM_006716119.2:c.1644+139C>T	XP_006716182.1:n.1644+139C>T
XM_006716119.3:c.1644+139C>T	XP_006716182.1:n.1644+139C>T
XM_006716120.2:c.1602+139C>T	XP_006716183.1:n.1602+139C>T
XM_006716120.3:c.1602+139C>T	XP_006716183.1:n.1602+139C>T
XM_006716121.2:c.129+139C>T	XP_006716184.1:n.129+139C>T
XM_006716121.3:c.129+139C>T	XP_006716184.1:n.129+139C>T
XM_011516570.1:c.1719+139C>T	XP_011514872.1:n.1719+139C>T
XM_011516570.3:c.1719+139C>T	XP_011514872.1:n.1719+139C>T
XM_011516571.1:c.1704+139C>T	XP_011514873.1:n.1704+139C>T
XM_011516571.3:c.1704+139C>T	XP_011514873.1:n.1704+139C>T
XM_011516572.1:c.1704+139C>T	XP_011514874.1:n.1704+139C>T
XM_011516572.3:c.1704+139C>T	XP_011514874.1:n.1704+139C>T
XM_011516573.1:c.1488+139C>T	XP_011514875.1:n.1488+139C>T
XM_017012588.1:c.1545+139C>T	XP_016868077.1:n.1545+139C>T
XR_001744873.2:n.1739+139C>T
XR_001744874.2:n.1667+139C>T