Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523009T>A , CM000671.2:g.131523009T>A	GRCh38
NC_000009.11:g.134398396T>A , CM000671.1:g.134398396T>A	GRCh37
NC_000009.10:g.133388217T>A	NCBI36
NG_008896.1:g.25108T>A
NG_008896.2:g.25108T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1919T>A	ENSP00000343034.7:p.Leu640Gln
ENST00000404875.7:n.2621T>A
ENST00000423007.6:c.2138T>A	ENSP00000404119.2:p.Leu713Gln
ENST00000677295.2:c.*2425T>A	ENSP00000504346.2:n.*2425T>A
ENST00000678264.2:c.*2264T>A	ENSP00000503157.2:n.*2264T>A
ENST00000682070.1:n.2391T>A
ENST00000682639.1:c.78T>A
ENST00000682813.1:n.2478T>A
ENST00000683231.1:c.78T>A
ENST00000683392.1:n.4673T>A
ENST00000683712.1:n.2486T>A
ENST00000683900.1:n.3981T>A
ENST00000684062.1:n.2747T>A
ENST00000684399.1:c.78T>A
ENST00000684579.1:n.3927T>A
ENST00000341012.12:c.1919T>A	ENSP00000343034.7:p.Leu640Gln
ENST00000372220.5:c.950T>A	ENSP00000361294.5:p.Leu317Gln
ENST00000372228.9:c.2147T>A	ENSP00000361302.3:p.Leu716Gln
ENST00000402686.8:c.2081T>A MANE Select	ENSP00000385797.4:p.Leu694Gln
ENST00000676640.1:c.2081T>A	ENSP00000503281.1:p.Leu694Gln
ENST00000676803.1:c.1142T>A	ENSP00000503093.1:p.Leu381Gln
ENST00000676835.1:c.*1296T>A	ENSP00000502911.1:n.*1296T>A
ENST00000677029.1:c.1625T>A	ENSP00000502936.1:p.Leu542Gln
ENST00000677099.1:c.*1791T>A	ENSP00000504553.1:n.*1791T>A
ENST00000677216.1:c.1730T>A	ENSP00000503772.1:p.Leu577Gln
ENST00000677221.1:n.1106T>A
ENST00000677295.1:c.*1303T>A	ENSP00000504346.1:n.*1303T>A
ENST00000677444.1:c.2026T>A
ENST00000677586.1:n.1448T>A
ENST00000677626.1:c.1730T>A	ENSP00000503552.1:p.Leu577Gln
ENST00000677853.1:c.*1089T>A	ENSP00000503488.1:n.*1089T>A
ENST00000678264.1:c.*1458T>A	ENSP00000503157.1:n.*1458T>A
ENST00000678303.1:c.1991T>A	ENSP00000503696.1:p.Leu664Gln
ENST00000678366.1:c.*2330T>A	ENSP00000504353.1:n.*2330T>A
ENST00000678546.1:c.*2026T>A	ENSP00000503062.1:n.*2026T>A
ENST00000678548.1:c.*2220T>A	ENSP00000503934.1:n.*2220T>A
ENST00000678626.1:n.1917T>A
ENST00000678739.1:c.*2247T>A	ENSP00000503806.1:n.*2247T>A
ENST00000678833.1:c.*1833T>A	ENSP00000503893.1:n.*1833T>A
ENST00000679023.1:c.1919T>A	ENSP00000503718.1:p.Leu640Gln
ENST00000679076.1:c.1700T>A
ENST00000679111.1:c.*837T>A	ENSP00000504257.1:n.*837T>A
ENST00000679189.1:c.1730T>A	ENSP00000503356.1:p.Leu577Gln
ENST00000341012.11:c.1919T>A	ENSP00000343034.7:p.Leu640Gln
ENST00000372220.4:c.944T>A	ENSP00000361294.4:p.Leu315Gln
ENST00000372228.7:c.2147T>A	ENSP00000361302.3:p.Leu716Gln
ENST00000402686.7:c.2081T>A	ENSP00000385797.3:p.Leu694Gln
ENST00000404875.6:c.1730T>A	ENSP00000384531.2:p.Leu577Gln
ENST00000423007.5:c.2081T>A	ENSP00000404119.1:p.Leu694Gln
ENST00000485278.5:n.2631T>A
NM_001077365.1:c.2081T>A	NP_001070833.1:p.Leu694Gln
NM_001077366.1:c.1919T>A	NP_001070834.1:p.Leu640Gln
NM_001136113.1:c.2081T>A	NP_001129585.1:p.Leu694Gln
NM_001136114.1:c.1730T>A	NP_001129586.1:p.Leu577Gln
NM_007171.3:c.2147T>A	NP_009102.3:p.Leu716Gln
XM_005272156.1:c.2147T>A	XP_005272213.1:p.Leu716Gln
XM_005272158.1:c.1985T>A	XP_005272215.1:p.Leu662Gln
XM_005272159.1:c.1796T>A	XP_005272216.1:p.Leu599Gln
XM_005272162.1:c.950T>A	XP_005272219.1:p.Leu317Gln
XM_006716932.1:c.1796T>A	XP_006716995.1:p.Leu599Gln
XM_011518140.1:c.2000T>A	XP_011516442.1:p.Leu667Gln
XM_011518141.1:c.1934T>A	XP_011516443.1:p.Leu645Gln
XM_011518142.1:c.1838T>A	XP_011516444.1:p.Leu613Gln
XM_011518143.1:c.1832T>A	XP_011516445.1:p.Leu611Gln
XM_011518145.1:c.1691T>A	XP_011516447.1:p.Leu564Gln
XM_011518147.1:c.1019T>A	XP_011516449.1:p.Leu340Gln
XR_929703.1:n.2323T>A
NM_001353193.1:c.2147T>A	NP_001340122.1:p.Leu716Gln
NM_001353194.1:c.1919T>A	NP_001340123.1:p.Leu640Gln
NM_001353195.1:c.1730T>A	NP_001340124.1:p.Leu577Gln
NM_001353196.1:c.1991T>A	NP_001340125.1:p.Leu664Gln
NM_001353197.1:c.1985T>A	NP_001340126.1:p.Leu662Gln
NM_001353198.1:c.1985T>A	NP_001340127.1:p.Leu662Gln
NM_001353199.1:c.1796T>A	NP_001340128.1:p.Leu599Gln
NM_001353200.1:c.1625T>A	NP_001340129.1:p.Leu542Gln
NR_148391.1:n.2131T>A
NR_148392.1:n.2349T>A
NR_148393.1:n.2270T>A
NR_148394.1:n.2024T>A
NR_148395.1:n.2422T>A
NR_148396.1:n.2056T>A
NR_148397.1:n.2181T>A
NR_148398.1:n.2136T>A
NR_148399.1:n.2662T>A
NR_148400.1:n.2261T>A
XM_005272162.3:c.950T>A	XP_005272219.1:p.Leu317Gln
XM_006716932.2:c.1796T>A	XP_006716995.1:p.Leu599Gln
XM_011518140.2:c.2000T>A	XP_011516442.1:p.Leu667Gln
XM_011518141.2:c.1934T>A	XP_011516443.1:p.Leu645Gln
XM_011518142.2:c.1838T>A	XP_011516444.1:p.Leu613Gln
XM_011518143.2:c.1832T>A	XP_011516445.1:p.Leu611Gln
XM_011518145.2:c.1691T>A	XP_011516447.1:p.Leu564Gln
XM_017014205.2:c.950T>A	XP_016869694.1:p.Leu317Gln
XM_024447380.1:c.950T>A	XP_024303148.1:p.Leu317Gln
XM_024447381.1:c.1256T>A	XP_024303149.1:p.Leu419Gln
XM_024447382.1:c.950T>A	XP_024303150.1:p.Leu317Gln
XR_001746160.2:n.2251T>A
XR_001746162.2:n.2456T>A
XR_001746164.1:n.2173T>A
XR_001746166.2:n.2468T>A
NM_001077365.2:c.2081T>A MANE Select	NP_001070833.1:p.Leu694Gln
NM_001077366.2:c.1919T>A	NP_001070834.1:p.Leu640Gln
NM_001136113.2:c.2081T>A	NP_001129585.1:p.Leu694Gln
NM_001136114.2:c.1730T>A	NP_001129586.1:p.Leu577Gln
NM_001353193.2:c.2147T>A	NP_001340122.2:p.Leu716Gln
NM_001353194.2:c.1919T>A	NP_001340123.1:p.Leu640Gln
NM_001353195.2:c.1730T>A	NP_001340124.1:p.Leu577Gln
NM_001353196.2:c.1991T>A	NP_001340125.1:p.Leu664Gln
NM_001353197.2:c.1985T>A	NP_001340126.2:p.Leu662Gln
NM_001353198.2:c.1985T>A	NP_001340127.2:p.Leu662Gln
NM_001353199.2:c.1796T>A	NP_001340128.2:p.Leu599Gln
NM_001353200.2:c.1625T>A	NP_001340129.1:p.Leu542Gln
NM_001374689.1:c.2069T>A	NP_001361618.1:p.Leu690Gln
NM_001374690.1:c.1862T>A	NP_001361619.1:p.Leu621Gln
NM_001374691.1:c.1730T>A	NP_001361620.1:p.Leu577Gln
NM_001374692.1:c.1730T>A	NP_001361621.1:p.Leu577Gln
NM_001374693.1:c.1730T>A	NP_001361622.1:p.Leu577Gln
NM_001374695.1:c.1691T>A	NP_001361624.1:p.Leu564Gln
NM_007171.4:c.2147T>A	NP_009102.4:p.Leu716Gln
NR_148391.2:n.2115T>A
NR_148392.2:n.2333T>A
NR_148393.2:n.2254T>A
NR_148394.2:n.2008T>A
NR_148395.2:n.2406T>A
NR_148396.2:n.2040T>A
NR_148397.2:n.2165T>A
NR_148398.2:n.2120T>A
NR_148399.2:n.2646T>A
NR_148400.2:n.2245T>A

Linked Data

Genomic Alleles

Transcript Alleles