Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521407T>A , CM000671.2:g.131521407T>A	GRCh38
NC_000009.11:g.134396794T>A , CM000671.1:g.134396794T>A	GRCh37
NC_000009.10:g.133386615T>A	NCBI36
NG_008896.1:g.23506T>A
NG_008896.2:g.23506T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1598T>A	ENSP00000343034.7:p.Ile533Asn
ENST00000404875.7:n.2300T>A
ENST00000423007.6:c.1817T>A	ENSP00000404119.2:p.Ile606Asn
ENST00000677295.2:c.*2104T>A	ENSP00000504346.2:n.*2104T>A
ENST00000678264.2:c.*1943T>A	ENSP00000503157.2:n.*1943T>A
ENST00000682070.1:n.2225T>A
ENST00000682813.1:n.2164T>A
ENST00000683392.1:n.4507T>A
ENST00000683712.1:n.2165T>A
ENST00000683900.1:n.3660T>A
ENST00000684062.1:n.2426T>A
ENST00000684579.1:n.3606T>A
ENST00000684679.1:n.987T>A
ENST00000341012.12:c.1598T>A	ENSP00000343034.7:p.Ile533Asn
ENST00000372220.5:c.629T>A	ENSP00000361294.5:p.Ile210Asn
ENST00000372228.9:c.1826T>A	ENSP00000361302.3:p.Ile609Asn
ENST00000402686.8:c.1760T>A MANE Select	ENSP00000385797.4:p.Ile587Asn
ENST00000676640.1:c.1760T>A	ENSP00000503281.1:p.Ile587Asn
ENST00000676803.1:c.821T>A	ENSP00000503093.1:p.Ile274Asn
ENST00000676835.1:c.*975T>A	ENSP00000502911.1:n.*975T>A
ENST00000677029.1:c.1304T>A	ENSP00000502936.1:p.Ile435Asn
ENST00000677099.1:c.*1470T>A	ENSP00000504553.1:n.*1470T>A
ENST00000677216.1:c.1409T>A	ENSP00000503772.1:p.Ile470Asn
ENST00000677221.1:n.785T>A
ENST00000677295.1:c.*1137T>A	ENSP00000504346.1:n.*1137T>A
ENST00000677444.1:c.1705T>A
ENST00000677586.1:n.1127T>A
ENST00000677626.1:c.1409T>A	ENSP00000503552.1:p.Ile470Asn
ENST00000677853.1:c.*768T>A	ENSP00000503488.1:n.*768T>A
ENST00000678202.1:n.919T>A
ENST00000678264.1:c.*1137T>A	ENSP00000503157.1:n.*1137T>A
ENST00000678303.1:c.1670T>A	ENSP00000503696.1:p.Ile557Asn
ENST00000678366.1:c.*2009T>A	ENSP00000504353.1:n.*2009T>A
ENST00000678546.1:c.*1705T>A	ENSP00000503062.1:n.*1705T>A
ENST00000678548.1:c.*1832T>A	ENSP00000503934.1:n.*1832T>A
ENST00000678626.1:n.1596T>A
ENST00000678739.1:c.*2081T>A	ENSP00000503806.1:n.*2081T>A
ENST00000678833.1:c.*1512T>A	ENSP00000503893.1:n.*1512T>A
ENST00000679023.1:c.1598T>A	ENSP00000503718.1:p.Ile533Asn
ENST00000679076.1:c.1379T>A
ENST00000679111.1:c.*516T>A	ENSP00000504257.1:n.*516T>A
ENST00000679189.1:c.1409T>A	ENSP00000503356.1:p.Ile470Asn
ENST00000341012.11:c.1598T>A	ENSP00000343034.7:p.Ile533Asn
ENST00000372220.4:c.623T>A	ENSP00000361294.4:p.Ile208Asn
ENST00000372228.7:c.1826T>A	ENSP00000361302.3:p.Ile609Asn
ENST00000402686.7:c.1760T>A	ENSP00000385797.3:p.Ile587Asn
ENST00000404875.6:c.1409T>A	ENSP00000384531.2:p.Ile470Asn
ENST00000423007.5:c.1760T>A	ENSP00000404119.1:p.Ile587Asn
ENST00000485278.5:n.2310T>A
ENST00000494883.1:n.303T>A
NM_001077365.1:c.1760T>A	NP_001070833.1:p.Ile587Asn
NM_001077366.1:c.1598T>A	NP_001070834.1:p.Ile533Asn
NM_001136113.1:c.1760T>A	NP_001129585.1:p.Ile587Asn
NM_001136114.1:c.1409T>A	NP_001129586.1:p.Ile470Asn
NM_007171.3:c.1826T>A	NP_009102.3:p.Ile609Asn
XM_005272156.1:c.1826T>A	XP_005272213.1:p.Ile609Asn
XM_005272158.1:c.1664T>A	XP_005272215.1:p.Ile555Asn
XM_005272159.1:c.1475T>A	XP_005272216.1:p.Ile492Asn
XM_005272162.1:c.629T>A	XP_005272219.1:p.Ile210Asn
XM_006716932.1:c.1475T>A	XP_006716995.1:p.Ile492Asn
XM_011518140.1:c.1679T>A	XP_011516442.1:p.Ile560Asn
XM_011518141.1:c.1613T>A	XP_011516443.1:p.Ile538Asn
XM_011518142.1:c.1517T>A	XP_011516444.1:p.Ile506Asn
XM_011518143.1:c.1511T>A	XP_011516445.1:p.Ile504Asn
XM_011518145.1:c.1370T>A	XP_011516447.1:p.Ile457Asn
XM_011518147.1:c.698T>A	XP_011516449.1:p.Ile233Asn
XR_929703.1:n.2002T>A
NM_001353193.1:c.1826T>A	NP_001340122.1:p.Ile609Asn
NM_001353194.1:c.1598T>A	NP_001340123.1:p.Ile533Asn
NM_001353195.1:c.1409T>A	NP_001340124.1:p.Ile470Asn
NM_001353196.1:c.1670T>A	NP_001340125.1:p.Ile557Asn
NM_001353197.1:c.1664T>A	NP_001340126.1:p.Ile555Asn
NM_001353198.1:c.1664T>A	NP_001340127.1:p.Ile555Asn
NM_001353199.1:c.1475T>A	NP_001340128.1:p.Ile492Asn
NM_001353200.1:c.1304T>A	NP_001340129.1:p.Ile435Asn
NR_148391.1:n.1810T>A
NR_148392.1:n.2028T>A
NR_148393.1:n.1949T>A
NR_148394.1:n.1703T>A
NR_148395.1:n.2101T>A
NR_148396.1:n.1735T>A
NR_148397.1:n.1860T>A
NR_148398.1:n.1815T>A
NR_148399.1:n.2341T>A
NR_148400.1:n.1940T>A
XM_005272162.3:c.629T>A	XP_005272219.1:p.Ile210Asn
XM_006716932.2:c.1475T>A	XP_006716995.1:p.Ile492Asn
XM_011518140.2:c.1679T>A	XP_011516442.1:p.Ile560Asn
XM_011518141.2:c.1613T>A	XP_011516443.1:p.Ile538Asn
XM_011518142.2:c.1517T>A	XP_011516444.1:p.Ile506Asn
XM_011518143.2:c.1511T>A	XP_011516445.1:p.Ile504Asn
XM_011518145.2:c.1370T>A	XP_011516447.1:p.Ile457Asn
XM_017014205.2:c.629T>A	XP_016869694.1:p.Ile210Asn
XM_024447380.1:c.629T>A	XP_024303148.1:p.Ile210Asn
XM_024447381.1:c.935T>A	XP_024303149.1:p.Ile312Asn
XM_024447382.1:c.629T>A	XP_024303150.1:p.Ile210Asn
XR_001746160.2:n.1930T>A
XR_001746162.2:n.2135T>A
XR_001746164.1:n.1852T>A
XR_001746166.2:n.2147T>A
NM_001077365.2:c.1760T>A MANE Select	NP_001070833.1:p.Ile587Asn
NM_001077366.2:c.1598T>A	NP_001070834.1:p.Ile533Asn
NM_001136113.2:c.1760T>A	NP_001129585.1:p.Ile587Asn
NM_001136114.2:c.1409T>A	NP_001129586.1:p.Ile470Asn
NM_001353193.2:c.1826T>A	NP_001340122.2:p.Ile609Asn
NM_001353194.2:c.1598T>A	NP_001340123.1:p.Ile533Asn
NM_001353195.2:c.1409T>A	NP_001340124.1:p.Ile470Asn
NM_001353196.2:c.1670T>A	NP_001340125.1:p.Ile557Asn
NM_001353197.2:c.1664T>A	NP_001340126.2:p.Ile555Asn
NM_001353198.2:c.1664T>A	NP_001340127.2:p.Ile555Asn
NM_001353199.2:c.1475T>A	NP_001340128.2:p.Ile492Asn
NM_001353200.2:c.1304T>A	NP_001340129.1:p.Ile435Asn
NM_001374689.1:c.1748T>A	NP_001361618.1:p.Ile583Asn
NM_001374690.1:c.1541T>A	NP_001361619.1:p.Ile514Asn
NM_001374691.1:c.1409T>A	NP_001361620.1:p.Ile470Asn
NM_001374692.1:c.1409T>A	NP_001361621.1:p.Ile470Asn
NM_001374693.1:c.1409T>A	NP_001361622.1:p.Ile470Asn
NM_001374695.1:c.1370T>A	NP_001361624.1:p.Ile457Asn
NM_007171.4:c.1826T>A	NP_009102.4:p.Ile609Asn
NR_148391.2:n.1794T>A
NR_148392.2:n.2012T>A
NR_148393.2:n.1933T>A
NR_148394.2:n.1687T>A
NR_148395.2:n.2085T>A
NR_148396.2:n.1719T>A
NR_148397.2:n.1844T>A
NR_148398.2:n.1799T>A
NR_148399.2:n.2325T>A
NR_148400.2:n.1924T>A

Linked Data

Genomic Alleles

Transcript Alleles