Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522136C>A , CM000671.2:g.131522136C>A	GRCh38
NC_000009.11:g.134397523C>A , CM000671.1:g.134397523C>A	GRCh37
NC_000009.10:g.133387344C>A	NCBI36
NG_008896.1:g.24235C>A
NG_008896.2:g.24235C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1753C>A	ENSP00000343034.7:p.Leu585Ile
ENST00000404875.7:n.2455C>A
ENST00000423007.6:c.1972C>A	ENSP00000404119.2:p.Leu658Ile
ENST00000677295.2:c.*2259C>A	ENSP00000504346.2:n.*2259C>A
ENST00000678264.2:c.*2098C>A	ENSP00000503157.2:n.*2098C>A
ENST00000682070.1:n.2291-66C>A
ENST00000682813.1:n.2319C>A
ENST00000683392.1:n.4573-66C>A
ENST00000683712.1:n.2320C>A
ENST00000683900.1:n.3815C>A
ENST00000684062.1:n.2581C>A
ENST00000684579.1:n.3761C>A
ENST00000684679.1:n.1142C>A
ENST00000341012.12:c.1753C>A	ENSP00000343034.7:p.Leu585Ile
ENST00000372220.5:c.784C>A	ENSP00000361294.5:p.Leu262Ile
ENST00000372228.9:c.1981C>A	ENSP00000361302.3:p.Leu661Ile
ENST00000402686.8:c.1915C>A MANE Select	ENSP00000385797.4:p.Leu639Ile
ENST00000676640.1:c.1915C>A	ENSP00000503281.1:p.Leu639Ile
ENST00000676803.1:c.976C>A	ENSP00000503093.1:p.Leu326Ile
ENST00000676835.1:c.*1130C>A	ENSP00000502911.1:n.*1130C>A
ENST00000677029.1:c.1459C>A	ENSP00000502936.1:p.Leu487Ile
ENST00000677099.1:c.*1625C>A	ENSP00000504553.1:n.*1625C>A
ENST00000677216.1:c.1564C>A	ENSP00000503772.1:p.Leu522Ile
ENST00000677221.1:n.940C>A
ENST00000677295.1:c.*1203-66C>A	ENSP00000504346.1:n.*1203-66C>A
ENST00000677444.1:c.1860C>A
ENST00000677586.1:n.1282C>A
ENST00000677626.1:c.1564C>A	ENSP00000503552.1:p.Leu522Ile
ENST00000677853.1:c.*923C>A	ENSP00000503488.1:n.*923C>A
ENST00000678202.1:n.1074C>A
ENST00000678264.1:c.*1292C>A	ENSP00000503157.1:n.*1292C>A
ENST00000678303.1:c.1825C>A	ENSP00000503696.1:p.Leu609Ile
ENST00000678366.1:c.*2164C>A	ENSP00000504353.1:n.*2164C>A
ENST00000678546.1:c.*1860C>A	ENSP00000503062.1:n.*1860C>A
ENST00000678548.1:c.*2054C>A	ENSP00000503934.1:n.*2054C>A
ENST00000678626.1:n.1751C>A
ENST00000678739.1:c.*2147-66C>A	ENSP00000503806.1:n.*2147-66C>A
ENST00000678833.1:c.*1667C>A	ENSP00000503893.1:n.*1667C>A
ENST00000679023.1:c.1753C>A	ENSP00000503718.1:p.Leu585Ile
ENST00000679076.1:c.1534C>A
ENST00000679111.1:c.*671C>A	ENSP00000504257.1:n.*671C>A
ENST00000679189.1:c.1564C>A	ENSP00000503356.1:p.Leu522Ile
ENST00000341012.11:c.1753C>A	ENSP00000343034.7:p.Leu585Ile
ENST00000372220.4:c.778C>A	ENSP00000361294.4:p.Leu260Ile
ENST00000372228.7:c.1981C>A	ENSP00000361302.3:p.Leu661Ile
ENST00000402686.7:c.1915C>A	ENSP00000385797.3:p.Leu639Ile
ENST00000404875.6:c.1564C>A	ENSP00000384531.2:p.Leu522Ile
ENST00000423007.5:c.1915C>A	ENSP00000404119.1:p.Leu639Ile
ENST00000485278.5:n.2465C>A
ENST00000494883.1:n.458C>A
NM_001077365.1:c.1915C>A	NP_001070833.1:p.Leu639Ile
NM_001077366.1:c.1753C>A	NP_001070834.1:p.Leu585Ile
NM_001136113.1:c.1915C>A	NP_001129585.1:p.Leu639Ile
NM_001136114.1:c.1564C>A	NP_001129586.1:p.Leu522Ile
NM_007171.3:c.1981C>A	NP_009102.3:p.Leu661Ile
XM_005272156.1:c.1981C>A	XP_005272213.1:p.Leu661Ile
XM_005272158.1:c.1819C>A	XP_005272215.1:p.Leu607Ile
XM_005272159.1:c.1630C>A	XP_005272216.1:p.Leu544Ile
XM_005272162.1:c.784C>A	XP_005272219.1:p.Leu262Ile
XM_006716932.1:c.1630C>A	XP_006716995.1:p.Leu544Ile
XM_011518140.1:c.1834C>A	XP_011516442.1:p.Leu612Ile
XM_011518141.1:c.1768C>A	XP_011516443.1:p.Leu590Ile
XM_011518142.1:c.1672C>A	XP_011516444.1:p.Leu558Ile
XM_011518143.1:c.1666C>A	XP_011516445.1:p.Leu556Ile
XM_011518145.1:c.1525C>A	XP_011516447.1:p.Leu509Ile
XM_011518147.1:c.853C>A	XP_011516449.1:p.Leu285Ile
XR_929703.1:n.2157C>A
NM_001353193.1:c.1981C>A	NP_001340122.1:p.Leu661Ile
NM_001353194.1:c.1753C>A	NP_001340123.1:p.Leu585Ile
NM_001353195.1:c.1564C>A	NP_001340124.1:p.Leu522Ile
NM_001353196.1:c.1825C>A	NP_001340125.1:p.Leu609Ile
NM_001353197.1:c.1819C>A	NP_001340126.1:p.Leu607Ile
NM_001353198.1:c.1819C>A	NP_001340127.1:p.Leu607Ile
NM_001353199.1:c.1630C>A	NP_001340128.1:p.Leu544Ile
NM_001353200.1:c.1459C>A	NP_001340129.1:p.Leu487Ile
NR_148391.1:n.1965C>A
NR_148392.1:n.2183C>A
NR_148393.1:n.2104C>A
NR_148394.1:n.1858C>A
NR_148395.1:n.2256C>A
NR_148396.1:n.1890C>A
NR_148397.1:n.2015C>A
NR_148398.1:n.1970C>A
NR_148399.1:n.2496C>A
NR_148400.1:n.2095C>A
XM_005272162.3:c.784C>A	XP_005272219.1:p.Leu262Ile
XM_006716932.2:c.1630C>A	XP_006716995.1:p.Leu544Ile
XM_011518140.2:c.1834C>A	XP_011516442.1:p.Leu612Ile
XM_011518141.2:c.1768C>A	XP_011516443.1:p.Leu590Ile
XM_011518142.2:c.1672C>A	XP_011516444.1:p.Leu558Ile
XM_011518143.2:c.1666C>A	XP_011516445.1:p.Leu556Ile
XM_011518145.2:c.1525C>A	XP_011516447.1:p.Leu509Ile
XM_017014205.2:c.784C>A	XP_016869694.1:p.Leu262Ile
XM_024447380.1:c.784C>A	XP_024303148.1:p.Leu262Ile
XM_024447381.1:c.1090C>A	XP_024303149.1:p.Leu364Ile
XM_024447382.1:c.784C>A	XP_024303150.1:p.Leu262Ile
XR_001746160.2:n.2085C>A
XR_001746162.2:n.2290C>A
XR_001746164.1:n.2007C>A
XR_001746166.2:n.2302C>A
NM_001077365.2:c.1915C>A MANE Select	NP_001070833.1:p.Leu639Ile
NM_001077366.2:c.1753C>A	NP_001070834.1:p.Leu585Ile
NM_001136113.2:c.1915C>A	NP_001129585.1:p.Leu639Ile
NM_001136114.2:c.1564C>A	NP_001129586.1:p.Leu522Ile
NM_001353193.2:c.1981C>A	NP_001340122.2:p.Leu661Ile
NM_001353194.2:c.1753C>A	NP_001340123.1:p.Leu585Ile
NM_001353195.2:c.1564C>A	NP_001340124.1:p.Leu522Ile
NM_001353196.2:c.1825C>A	NP_001340125.1:p.Leu609Ile
NM_001353197.2:c.1819C>A	NP_001340126.2:p.Leu607Ile
NM_001353198.2:c.1819C>A	NP_001340127.2:p.Leu607Ile
NM_001353199.2:c.1630C>A	NP_001340128.2:p.Leu544Ile
NM_001353200.2:c.1459C>A	NP_001340129.1:p.Leu487Ile
NM_001374689.1:c.1903C>A	NP_001361618.1:p.Leu635Ile
NM_001374690.1:c.1696C>A	NP_001361619.1:p.Leu566Ile
NM_001374691.1:c.1564C>A	NP_001361620.1:p.Leu522Ile
NM_001374692.1:c.1564C>A	NP_001361621.1:p.Leu522Ile
NM_001374693.1:c.1564C>A	NP_001361622.1:p.Leu522Ile
NM_001374695.1:c.1525C>A	NP_001361624.1:p.Leu509Ile
NM_007171.4:c.1981C>A	NP_009102.4:p.Leu661Ile
NR_148391.2:n.1949C>A
NR_148392.2:n.2167C>A
NR_148393.2:n.2088C>A
NR_148394.2:n.1842C>A
NR_148395.2:n.2240C>A
NR_148396.2:n.1874C>A
NR_148397.2:n.1999C>A
NR_148398.2:n.1954C>A
NR_148399.2:n.2480C>A
NR_148400.2:n.2079C>A

Linked Data

Genomic Alleles

Transcript Alleles