Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523076C>A , CM000671.2:g.131523076C>A	GRCh38
NC_000009.11:g.134398463C>A , CM000671.1:g.134398463C>A	GRCh37
NC_000009.10:g.133388284C>A	NCBI36
NG_008896.1:g.25175C>A
NG_008896.2:g.25175C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1986C>A	ENSP00000343034.7:p.Asp662Glu
ENST00000404875.7:n.2688C>A
ENST00000423007.6:c.2205C>A	ENSP00000404119.2:p.Asp735Glu
ENST00000677295.2:c.*2492C>A	ENSP00000504346.2:n.*2492C>A
ENST00000678264.2:c.*2331C>A	ENSP00000503157.2:n.*2331C>A
ENST00000682070.1:n.2458C>A
ENST00000682639.1:c.145C>A
ENST00000682813.1:n.2545C>A
ENST00000683231.1:c.145C>A
ENST00000683392.1:n.4740C>A
ENST00000683712.1:n.2553C>A
ENST00000683900.1:n.4048C>A
ENST00000684062.1:n.2814C>A
ENST00000684399.1:c.145C>A
ENST00000684579.1:n.3994C>A
ENST00000341012.12:c.1986C>A	ENSP00000343034.7:p.Asp662Glu
ENST00000372220.5:c.1017C>A	ENSP00000361294.5:p.Asp339Glu
ENST00000372228.9:c.2214C>A	ENSP00000361302.3:p.Asp738Glu
ENST00000402686.8:c.2148C>A MANE Select	ENSP00000385797.4:p.Asp716Glu
ENST00000676640.1:c.2148C>A	ENSP00000503281.1:p.Asp716Glu
ENST00000676803.1:c.1209C>A	ENSP00000503093.1:p.Asp403Glu
ENST00000676835.1:c.*1363C>A	ENSP00000502911.1:n.*1363C>A
ENST00000677029.1:c.1692C>A	ENSP00000502936.1:p.Asp564Glu
ENST00000677099.1:c.*1858C>A	ENSP00000504553.1:n.*1858C>A
ENST00000677216.1:c.1797C>A	ENSP00000503772.1:p.Asp599Glu
ENST00000677295.1:c.*1370C>A	ENSP00000504346.1:n.*1370C>A
ENST00000677444.1:c.2093C>A
ENST00000677586.1:n.1515C>A
ENST00000677626.1:c.1797C>A	ENSP00000503552.1:p.Asp599Glu
ENST00000677853.1:c.*1156C>A	ENSP00000503488.1:n.*1156C>A
ENST00000678264.1:c.*1525C>A	ENSP00000503157.1:n.*1525C>A
ENST00000678303.1:c.2058C>A	ENSP00000503696.1:p.Asp686Glu
ENST00000678366.1:c.*2397C>A	ENSP00000504353.1:n.*2397C>A
ENST00000678546.1:c.*2093C>A	ENSP00000503062.1:n.*2093C>A
ENST00000678548.1:c.*2287C>A	ENSP00000503934.1:n.*2287C>A
ENST00000678626.1:n.1984C>A
ENST00000678739.1:c.*2314C>A	ENSP00000503806.1:n.*2314C>A
ENST00000678833.1:c.*1900C>A	ENSP00000503893.1:n.*1900C>A
ENST00000679023.1:c.1986C>A	ENSP00000503718.1:p.Asp662Glu
ENST00000679076.1:c.1767C>A
ENST00000679111.1:c.*904C>A	ENSP00000504257.1:n.*904C>A
ENST00000679189.1:c.1797C>A	ENSP00000503356.1:p.Asp599Glu
ENST00000341012.11:c.1986C>A	ENSP00000343034.7:p.Asp662Glu
ENST00000372220.4:c.1011C>A	ENSP00000361294.4:p.Asp337Glu
ENST00000372228.7:c.2214C>A	ENSP00000361302.3:p.Asp738Glu
ENST00000402686.7:c.2148C>A	ENSP00000385797.3:p.Asp716Glu
ENST00000404875.6:c.1797C>A	ENSP00000384531.2:p.Asp599Glu
ENST00000423007.5:c.2148C>A	ENSP00000404119.1:p.Asp716Glu
ENST00000485278.5:n.2698C>A
NM_001077365.1:c.2148C>A	NP_001070833.1:p.Asp716Glu
NM_001077366.1:c.1986C>A	NP_001070834.1:p.Asp662Glu
NM_001136113.1:c.2148C>A	NP_001129585.1:p.Asp716Glu
NM_001136114.1:c.1797C>A	NP_001129586.1:p.Asp599Glu
NM_007171.3:c.2214C>A	NP_009102.3:p.Asp738Glu
XM_005272156.1:c.2214C>A	XP_005272213.1:p.Asp738Glu
XM_005272158.1:c.2052C>A	XP_005272215.1:p.Asp684Glu
XM_005272159.1:c.1863C>A	XP_005272216.1:p.Asp621Glu
XM_005272162.1:c.1017C>A	XP_005272219.1:p.Asp339Glu
XM_006716932.1:c.1863C>A	XP_006716995.1:p.Asp621Glu
XM_011518140.1:c.2067C>A	XP_011516442.1:p.Asp689Glu
XM_011518141.1:c.2001C>A	XP_011516443.1:p.Asp667Glu
XM_011518142.1:c.1905C>A	XP_011516444.1:p.Asp635Glu
XM_011518143.1:c.1899C>A	XP_011516445.1:p.Asp633Glu
XM_011518145.1:c.1758C>A	XP_011516447.1:p.Asp586Glu
XM_011518147.1:c.1086C>A	XP_011516449.1:p.Asp362Glu
XR_929703.1:n.2390C>A
NM_001353193.1:c.2214C>A	NP_001340122.1:p.Asp738Glu
NM_001353194.1:c.1986C>A	NP_001340123.1:p.Asp662Glu
NM_001353195.1:c.1797C>A	NP_001340124.1:p.Asp599Glu
NM_001353196.1:c.2058C>A	NP_001340125.1:p.Asp686Glu
NM_001353197.1:c.2052C>A	NP_001340126.1:p.Asp684Glu
NM_001353198.1:c.2052C>A	NP_001340127.1:p.Asp684Glu
NM_001353199.1:c.1863C>A	NP_001340128.1:p.Asp621Glu
NM_001353200.1:c.1692C>A	NP_001340129.1:p.Asp564Glu
NR_148391.1:n.2198C>A
NR_148392.1:n.2416C>A
NR_148393.1:n.2337C>A
NR_148394.1:n.2091C>A
NR_148395.1:n.2489C>A
NR_148396.1:n.2123C>A
NR_148397.1:n.2248C>A
NR_148398.1:n.2203C>A
NR_148399.1:n.2729C>A
NR_148400.1:n.2328C>A
XM_005272162.3:c.1017C>A	XP_005272219.1:p.Asp339Glu
XM_006716932.2:c.1863C>A	XP_006716995.1:p.Asp621Glu
XM_011518140.2:c.2067C>A	XP_011516442.1:p.Asp689Glu
XM_011518141.2:c.2001C>A	XP_011516443.1:p.Asp667Glu
XM_011518142.2:c.1905C>A	XP_011516444.1:p.Asp635Glu
XM_011518143.2:c.1899C>A	XP_011516445.1:p.Asp633Glu
XM_011518145.2:c.1758C>A	XP_011516447.1:p.Asp586Glu
XM_017014205.2:c.1017C>A	XP_016869694.1:p.Asp339Glu
XM_024447380.1:c.1017C>A	XP_024303148.1:p.Asp339Glu
XM_024447381.1:c.1323C>A	XP_024303149.1:p.Asp441Glu
XM_024447382.1:c.1017C>A	XP_024303150.1:p.Asp339Glu
XR_001746160.2:n.2318C>A
XR_001746162.2:n.2523C>A
XR_001746164.1:n.2240C>A
XR_001746166.2:n.2535C>A
NM_001077365.2:c.2148C>A MANE Select	NP_001070833.1:p.Asp716Glu
NM_001077366.2:c.1986C>A	NP_001070834.1:p.Asp662Glu
NM_001136113.2:c.2148C>A	NP_001129585.1:p.Asp716Glu
NM_001136114.2:c.1797C>A	NP_001129586.1:p.Asp599Glu
NM_001353193.2:c.2214C>A	NP_001340122.2:p.Asp738Glu
NM_001353194.2:c.1986C>A	NP_001340123.1:p.Asp662Glu
NM_001353195.2:c.1797C>A	NP_001340124.1:p.Asp599Glu
NM_001353196.2:c.2058C>A	NP_001340125.1:p.Asp686Glu
NM_001353197.2:c.2052C>A	NP_001340126.2:p.Asp684Glu
NM_001353198.2:c.2052C>A	NP_001340127.2:p.Asp684Glu
NM_001353199.2:c.1863C>A	NP_001340128.2:p.Asp621Glu
NM_001353200.2:c.1692C>A	NP_001340129.1:p.Asp564Glu
NM_001374689.1:c.2136C>A	NP_001361618.1:p.Asp712Glu
NM_001374690.1:c.1929C>A	NP_001361619.1:p.Asp643Glu
NM_001374691.1:c.1797C>A	NP_001361620.1:p.Asp599Glu
NM_001374692.1:c.1797C>A	NP_001361621.1:p.Asp599Glu
NM_001374693.1:c.1797C>A	NP_001361622.1:p.Asp599Glu
NM_001374695.1:c.1758C>A	NP_001361624.1:p.Asp586Glu
NM_007171.4:c.2214C>A	NP_009102.4:p.Asp738Glu
NR_148391.2:n.2182C>A
NR_148392.2:n.2400C>A
NR_148393.2:n.2321C>A
NR_148394.2:n.2075C>A
NR_148395.2:n.2473C>A
NR_148396.2:n.2107C>A
NR_148397.2:n.2232C>A
NR_148398.2:n.2187C>A
NR_148399.2:n.2713C>A
NR_148400.2:n.2312C>A

Linked Data

Genomic Alleles

Transcript Alleles