Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58903569T>A , CM000682.2:g.58903569T>A	GRCh38
NC_000020.10:g.57478624T>A , CM000682.1:g.57478624T>A	GRCh37
NC_000020.9:g.56912019T>A	NCBI36
NG_016194.1:g.68830T>A
NG_016194.2:g.68830T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2180T>A	ENSP00000265621.6:p.Leu727Gln
ENST00000419558.7:c.*154T>A	ENSP00000416234.2:n.*154T>A
ENST00000453292.7:c.895T>A	ENSP00000392000.2:n.895T>A
ENST00000462499.6:c.77T>A	ENSP00000499758.2:p.Leu26Gln
ENST00000464624.7:c.*138T>A	ENSP00000499607.2:n.*138T>A
ENST00000464788.6:c.119T>A	ENSP00000499239.2:p.Leu40Gln
ENST00000467227.6:c.77T>A	ENSP00000499681.2:p.Leu26Gln
ENST00000467321.6:c.119T>A	ENSP00000499523.2:p.Leu40Gln
ENST00000468895.6:c.296T>A	ENSP00000499551.2:p.Leu99Gln
ENST00000469431.6:c.119T>A	ENSP00000499654.2:p.Leu40Gln
ENST00000470512.6:c.122T>A	ENSP00000499552.2:p.Leu41Gln
ENST00000472183.6:c.119T>A	ENSP00000499673.2:p.Leu40Gln
ENST00000475610.2:n.802T>A
ENST00000476935.6:c.74T>A	ENSP00000499409.2:p.Leu25Gln
ENST00000478585.6:c.77T>A	ENSP00000499762.2:p.Leu26Gln
ENST00000480232.6:c.122T>A	ENSP00000499545.2:p.Leu41Gln
ENST00000481039.6:c.77T>A	ENSP00000499767.2:p.Leu26Gln
ENST00000482112.6:c.74T>A	ENSP00000499794.2:p.Leu25Gln
ENST00000485673.6:c.77T>A	ENSP00000499334.2:p.Leu26Gln
ENST00000488546.6:c.77T>A	ENSP00000499332.2:p.Leu26Gln
ENST00000488652.6:c.119T>A	ENSP00000499435.2:p.Leu40Gln
ENST00000492907.6:c.77T>A	ENSP00000499443.2:p.Leu26Gln
ENST00000603546.2:c.119T>A	ENSP00000474802.2:p.Leu40Gln
ENST00000604005.6:c.119T>A	ENSP00000474219.2:p.Leu40Gln
ENST00000663479.2:c.122T>A	ENSP00000499353.2:p.Leu41Gln
ENST00000667293.2:c.119T>A	ENSP00000499293.2:p.Leu40Gln
ENST00000676826.2:c.2228T>A	ENSP00000504675.2:p.Leu743Gln
ENST00000682092.1:n.802T>A
ENST00000682134.1:n.2222T>A
ENST00000682411.1:n.800T>A
ENST00000682590.1:n.802T>A
ENST00000682680.1:n.730T>A
ENST00000682803.1:c.-32T>A	ENSP00000507069.1:n.-32T>A
ENST00000682829.1:n.2624T>A
ENST00000682917.1:n.738T>A
ENST00000682986.1:n.802T>A
ENST00000683015.1:c.1066T>A	ENSP00000506815.1:n.1066T>A
ENST00000683632.1:n.811T>A
ENST00000683932.1:n.800T>A
ENST00000684284.1:n.2674T>A
ENST00000684466.1:n.802T>A
ENST00000684644.1:n.802T>A
ENST00000684761.1:n.802T>A
ENST00000306090.12:c.200T>A	ENSP00000304472.12:p.Leu67Gln
ENST00000349036.8:c.2180T>A	ENSP00000265621.5:p.Leu727Gln
ENST00000354359.12:c.299T>A	ENSP00000346328.7:p.Leu100Gln
ENST00000371085.8:c.296T>A MANE Select	ENSP00000360126.3:p.Leu99Gln
ENST00000371100.9:c.2225T>A MANE Plus Clinical	ENSP00000360141.3:p.Leu742Gln
ENST00000419558.6:c.*154T>A	ENSP00000416234.2:n.*154T>A
ENST00000461152.6:c.1024T>A	ENSP00000499274.1:n.1024T>A
ENST00000490374.6:n.461T>A
ENST00000657090.1:c.119T>A	ENSP00000499380.1:p.Leu40Gln
ENST00000663479.1:c.122T>A	ENSP00000499353.1:p.Leu41Gln
ENST00000667293.1:c.167T>A	ENSP00000499293.1:p.Leu56Gln
ENST00000676826.1:c.2228T>A	ENSP00000504675.1:p.Leu743Gln
ENST00000265620.11:c.251T>A	ENSP00000265620.7:p.Leu84Gln
ENST00000306090.11:c.94-6198T>A	ENSP00000304472.11:n.94-6198T>A
ENST00000313949.11:c.*199T>A	ENSP00000323571.7:n.*199T>A
ENST00000349036.7:c.347T>A	ENSP00000265621.4:p.Leu116Gln
ENST00000354359.11:c.299T>A	ENSP00000346328.7:p.Leu100Gln
ENST00000371075.7:c.*202T>A MANE Plus Clinical	ENSP00000360115.3:n.*202T>A
ENST00000371085.7:c.296T>A	ENSP00000360126.3:p.Leu99Gln
ENST00000371095.7:c.254T>A	ENSP00000360136.3:p.Leu85Gln
ENST00000371100.8:c.2225T>A	ENSP00000360141.3:p.Leu742Gln
ENST00000371102.8:c.2183T>A	ENSP00000360143.4:p.Leu728Gln
ENST00000419558.5:c.495T>A
ENST00000450130.5:c.339T>A
ENST00000461152.5:n.262T>A
ENST00000462499.5:n.373T>A
ENST00000464624.6:n.2512T>A
ENST00000464788.5:n.224T>A
ENST00000467227.5:n.237T>A
ENST00000467321.5:n.311T>A
ENST00000468895.5:n.165T>A
ENST00000469431.5:n.413T>A
ENST00000470512.5:n.370T>A
ENST00000472183.5:n.548T>A
ENST00000476196.5:n.589T>A
ENST00000476935.5:n.285T>A
ENST00000477931.5:n.411T>A
ENST00000478585.5:n.309T>A
ENST00000480232.5:n.315T>A
ENST00000480975.5:n.295T>A
ENST00000481039.5:n.213T>A
ENST00000482112.5:n.370T>A
ENST00000485673.5:n.541T>A
ENST00000487862.5:n.530T>A
ENST00000487981.5:n.33T>A
ENST00000488546.5:n.155T>A
ENST00000488652.5:n.386T>A
ENST00000490374.5:n.414T>A
ENST00000492907.5:n.247T>A
ENST00000494081.5:n.39T>A
ENST00000496934.5:n.1585T>A
ENST00000603546.1:c.119T>A	ENSP00000474802.1:p.Leu40Gln
ENST00000604005.5:c.119T>A	ENSP00000474219.1:p.Leu40Gln
NM_000516.4:c.296T>A	NP_000507.1:p.Leu99Gln
NM_000516.5:c.296T>A	NP_000507.1:p.Leu99Gln
NM_001077488.2:c.299T>A	NP_001070956.1:p.Leu100Gln
NM_001077488.3:c.299T>A	NP_001070956.1:p.Leu100Gln
NM_001077489.2:c.251T>A	NP_001070957.1:p.Leu84Gln
NM_001077489.3:c.251T>A	NP_001070957.1:p.Leu84Gln
NM_001077490.1:c.*157T>A	NP_001070958.1:n.*157T>A
NM_001077490.2:c.*157T>A	NP_001070958.1:n.*157T>A
NM_001309840.1:c.119T>A	NP_001296769.1:p.Leu40Gln
NM_001309861.1:c.119T>A	NP_001296790.1:p.Leu40Gln
NM_016592.2:c.*202T>A	NP_057676.1:n.*202T>A
NM_016592.3:c.*202T>A	NP_057676.1:n.*202T>A
NM_080425.2:c.2225T>A	NP_536350.2:p.Leu742Gln
NM_080425.3:c.2225T>A	NP_536350.2:p.Leu742Gln
NM_080426.2:c.254T>A	NP_536351.1:p.Leu85Gln
NM_080426.3:c.254T>A	NP_536351.1:p.Leu85Gln
NR_003259.1:c.-4294966910T>A
XM_017027812.2:c.2228T>A	XP_016883301.1:p.Leu743Gln
XM_017027813.2:c.2183T>A	XP_016883302.1:p.Leu728Gln
XM_017027814.2:c.2180T>A	XP_016883303.1:p.Leu727Gln
XM_017027815.1:c.155T>A	XP_016883304.1:p.Leu52Gln
XM_017027816.1:c.74T>A	XP_016883305.1:p.Leu25Gln
XM_017027817.1:c.74T>A	XP_016883306.1:p.Leu25Gln
XM_017027818.2:c.74T>A	XP_016883307.1:p.Leu25Gln
XM_017027819.1:c.74T>A	XP_016883308.1:p.Leu25Gln
XM_017027820.1:c.74T>A	XP_016883309.1:p.Leu25Gln
XM_017027821.1:c.*199T>A	XP_016883310.1:n.*199T>A
XM_017027822.1:c.*154T>A	XP_016883311.1:n.*154T>A
XM_024451872.1:c.200T>A	XP_024307640.1:p.Leu67Gln
XM_024451873.1:c.119T>A	XP_024307641.1:p.Leu40Gln
XM_024451874.1:c.119T>A	XP_024307642.1:p.Leu40Gln
XM_024451875.1:c.119T>A	XP_024307643.1:p.Leu40Gln
XR_002958471.1:n.1003T>A
NM_000516.6:c.296T>A	NP_000507.1:p.Leu99Gln
NM_001077488.4:c.299T>A	NP_001070956.1:p.Leu100Gln
NM_001077489.4:c.251T>A	NP_001070957.1:p.Leu84Gln
NM_001309840.2:c.119T>A	NP_001296769.1:p.Leu40Gln
NM_001309861.2:c.119T>A	NP_001296790.1:p.Leu40Gln
NM_016592.4:c.*202T>A	NP_057676.1:n.*202T>A
NM_080426.4:c.254T>A	NP_536351.1:p.Leu85Gln
NM_000516.7:c.296T>A MANE Select	NP_000507.1:p.Leu99Gln
NM_001077488.5:c.299T>A	NP_001070956.1:p.Leu100Gln
NM_001077490.3:c.*157T>A	NP_001070958.1:n.*157T>A
NM_016592.5:c.*202T>A MANE Plus Clinical	NP_057676.1:n.*202T>A
NM_080425.4:c.2225T>A MANE Plus Clinical	NP_536350.2:p.Leu742Gln

Linked Data

Genomic Alleles

Transcript Alleles