Canonical Allele Identifier: CA367884097

Gene: CACNA2D1

Linked Data

• MyVariant Identifiers: chr7:g.81593385T>A (hg19) ; chr7:g.81964069T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81964069T>A , CM000669.2:g.81964069T>A	GRCh38
NC_000007.13:g.81593385T>A , CM000669.1:g.81593385T>A	GRCh37
NC_000007.12:g.81431321T>A	NCBI36
NG_009358.2:g.484647A>T , LRG_437:g.484647A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443883.2:c.2803A>T	ENSP00000409374.2:p.Thr935Ser
ENST00000705961.1:c.2534A>T
ENST00000705962.1:c.2647A>T	ENSP00000516190.1:p.Thr883Ser
ENST00000356860.8:c.2767A>T MANE Select	ENSP00000349320.3:p.Thr923Ser
ENST00000356253.9:c.2803A>T	ENSP00000348589.5:p.Thr935Ser
ENST00000356860.7:c.2767A>T	ENSP00000349320.3:p.Thr923Ser
ENST00000469297.1:n.214A>T
NM_000722.3:c.2767A>T	NP_000713.2:p.Thr923Ser
XM_005250570.1:c.2803A>T	XP_005250627.1:p.Thr935Ser
XM_005250572.1:c.2752A>T	XP_005250629.1:p.Thr918Ser
XM_005250573.1:c.2746A>T	XP_005250630.1:p.Thr916Ser
XM_005250574.1:c.2731A>T	XP_005250631.1:p.Thr911Ser
XM_006716118.1:c.2824A>T	XP_006716181.1:p.Thr942Ser
XM_006716119.2:c.2749A>T	XP_006716182.1:p.Thr917Ser
XM_006716120.2:c.2707A>T	XP_006716183.1:p.Thr903Ser
XM_006716121.2:c.1234A>T	XP_006716184.1:p.Thr412Ser
XM_011516570.1:c.2824A>T	XP_011514872.1:p.Thr942Ser
XM_011516571.1:c.2809A>T	XP_011514873.1:p.Thr937Ser
XM_011516572.1:c.2788A>T	XP_011514874.1:p.Thr930Ser
XM_011516573.1:c.2593A>T	XP_011514875.1:p.Thr865Ser
NM_001366867.1:c.2803A>T	NP_001353796.1:p.Thr935Ser
XM_005250572.3:c.2752A>T	XP_005250629.1:p.Thr918Ser
XM_005250573.3:c.2746A>T	XP_005250630.1:p.Thr916Ser
XM_005250574.3:c.2731A>T	XP_005250631.1:p.Thr911Ser
XM_006716118.3:c.2824A>T	XP_006716181.1:p.Thr942Ser
XM_006716119.3:c.2749A>T	XP_006716182.1:p.Thr917Ser
XM_006716120.3:c.2707A>T	XP_006716183.1:p.Thr903Ser
XM_006716121.3:c.1234A>T	XP_006716184.1:p.Thr412Ser
XM_011516570.3:c.2824A>T	XP_011514872.1:p.Thr942Ser
XM_011516571.3:c.2809A>T	XP_011514873.1:p.Thr937Ser
XM_011516572.3:c.2788A>T	XP_011514874.1:p.Thr930Ser
XM_017012588.1:c.2650A>T	XP_016868077.1:p.Thr884Ser
XR_001744874.2:n.2560A>T
NM_000722.4:c.2767A>T MANE Select	NP_000713.2:p.Thr923Ser