Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521446G>T , CM000671.2:g.131521446G>T	GRCh38
NC_000009.11:g.134396833G>T , CM000671.1:g.134396833G>T	GRCh37
NC_000009.10:g.133386654G>T	NCBI36
NG_008896.1:g.23545G>T
NG_008896.2:g.23545G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1637G>T	ENSP00000343034.7:p.Arg546Leu
ENST00000404875.7:n.2339G>T
ENST00000423007.6:c.1856G>T	ENSP00000404119.2:p.Arg619Leu
ENST00000677295.2:c.*2143G>T	ENSP00000504346.2:n.*2143G>T
ENST00000678264.2:c.*1982G>T	ENSP00000503157.2:n.*1982G>T
ENST00000682070.1:n.2264G>T
ENST00000682813.1:n.2203G>T
ENST00000683392.1:n.4546G>T
ENST00000683712.1:n.2204G>T
ENST00000683900.1:n.3699G>T
ENST00000684062.1:n.2465G>T
ENST00000684579.1:n.3645G>T
ENST00000684679.1:n.1026G>T
ENST00000341012.12:c.1637G>T	ENSP00000343034.7:p.Arg546Leu
ENST00000372220.5:c.668G>T	ENSP00000361294.5:p.Arg223Leu
ENST00000372228.9:c.1865G>T	ENSP00000361302.3:p.Arg622Leu
ENST00000402686.8:c.1799G>T MANE Select	ENSP00000385797.4:p.Arg600Leu
ENST00000676640.1:c.1799G>T	ENSP00000503281.1:p.Arg600Leu
ENST00000676803.1:c.860G>T	ENSP00000503093.1:p.Arg287Leu
ENST00000676835.1:c.*1014G>T	ENSP00000502911.1:n.*1014G>T
ENST00000677029.1:c.1343G>T	ENSP00000502936.1:p.Arg448Leu
ENST00000677099.1:c.*1509G>T	ENSP00000504553.1:n.*1509G>T
ENST00000677216.1:c.1448G>T	ENSP00000503772.1:p.Arg483Leu
ENST00000677221.1:n.824G>T
ENST00000677295.1:c.*1176G>T	ENSP00000504346.1:n.*1176G>T
ENST00000677444.1:c.1744G>T
ENST00000677586.1:n.1166G>T
ENST00000677626.1:c.1448G>T	ENSP00000503552.1:p.Arg483Leu
ENST00000677853.1:c.*807G>T	ENSP00000503488.1:n.*807G>T
ENST00000678202.1:n.958G>T
ENST00000678264.1:c.*1176G>T	ENSP00000503157.1:n.*1176G>T
ENST00000678303.1:c.1709G>T	ENSP00000503696.1:p.Arg570Leu
ENST00000678366.1:c.*2048G>T	ENSP00000504353.1:n.*2048G>T
ENST00000678546.1:c.*1744G>T	ENSP00000503062.1:n.*1744G>T
ENST00000678548.1:c.*1871G>T	ENSP00000503934.1:n.*1871G>T
ENST00000678626.1:n.1635G>T
ENST00000678739.1:c.*2120G>T	ENSP00000503806.1:n.*2120G>T
ENST00000678833.1:c.*1551G>T	ENSP00000503893.1:n.*1551G>T
ENST00000679023.1:c.1637G>T	ENSP00000503718.1:p.Arg546Leu
ENST00000679076.1:c.1418G>T
ENST00000679111.1:c.*555G>T	ENSP00000504257.1:n.*555G>T
ENST00000679189.1:c.1448G>T	ENSP00000503356.1:p.Arg483Leu
ENST00000341012.11:c.1637G>T	ENSP00000343034.7:p.Arg546Leu
ENST00000372220.4:c.662G>T	ENSP00000361294.4:p.Arg221Leu
ENST00000372228.7:c.1865G>T	ENSP00000361302.3:p.Arg622Leu
ENST00000402686.7:c.1799G>T	ENSP00000385797.3:p.Arg600Leu
ENST00000404875.6:c.1448G>T	ENSP00000384531.2:p.Arg483Leu
ENST00000423007.5:c.1799G>T	ENSP00000404119.1:p.Arg600Leu
ENST00000485278.5:n.2349G>T
ENST00000494883.1:n.342G>T
NM_001077365.1:c.1799G>T	NP_001070833.1:p.Arg600Leu
NM_001077366.1:c.1637G>T	NP_001070834.1:p.Arg546Leu
NM_001136113.1:c.1799G>T	NP_001129585.1:p.Arg600Leu
NM_001136114.1:c.1448G>T	NP_001129586.1:p.Arg483Leu
NM_007171.3:c.1865G>T	NP_009102.3:p.Arg622Leu
XM_005272156.1:c.1865G>T	XP_005272213.1:p.Arg622Leu
XM_005272158.1:c.1703G>T	XP_005272215.1:p.Arg568Leu
XM_005272159.1:c.1514G>T	XP_005272216.1:p.Arg505Leu
XM_005272162.1:c.668G>T	XP_005272219.1:p.Arg223Leu
XM_006716932.1:c.1514G>T	XP_006716995.1:p.Arg505Leu
XM_011518140.1:c.1718G>T	XP_011516442.1:p.Arg573Leu
XM_011518141.1:c.1652G>T	XP_011516443.1:p.Arg551Leu
XM_011518142.1:c.1556G>T	XP_011516444.1:p.Arg519Leu
XM_011518143.1:c.1550G>T	XP_011516445.1:p.Arg517Leu
XM_011518145.1:c.1409G>T	XP_011516447.1:p.Arg470Leu
XM_011518147.1:c.737G>T	XP_011516449.1:p.Arg246Leu
XR_929703.1:n.2041G>T
NM_001353193.1:c.1865G>T	NP_001340122.1:p.Arg622Leu
NM_001353194.1:c.1637G>T	NP_001340123.1:p.Arg546Leu
NM_001353195.1:c.1448G>T	NP_001340124.1:p.Arg483Leu
NM_001353196.1:c.1709G>T	NP_001340125.1:p.Arg570Leu
NM_001353197.1:c.1703G>T	NP_001340126.1:p.Arg568Leu
NM_001353198.1:c.1703G>T	NP_001340127.1:p.Arg568Leu
NM_001353199.1:c.1514G>T	NP_001340128.1:p.Arg505Leu
NM_001353200.1:c.1343G>T	NP_001340129.1:p.Arg448Leu
NR_148391.1:n.1849G>T
NR_148392.1:n.2067G>T
NR_148393.1:n.1988G>T
NR_148394.1:n.1742G>T
NR_148395.1:n.2140G>T
NR_148396.1:n.1774G>T
NR_148397.1:n.1899G>T
NR_148398.1:n.1854G>T
NR_148399.1:n.2380G>T
NR_148400.1:n.1979G>T
XM_005272162.3:c.668G>T	XP_005272219.1:p.Arg223Leu
XM_006716932.2:c.1514G>T	XP_006716995.1:p.Arg505Leu
XM_011518140.2:c.1718G>T	XP_011516442.1:p.Arg573Leu
XM_011518141.2:c.1652G>T	XP_011516443.1:p.Arg551Leu
XM_011518142.2:c.1556G>T	XP_011516444.1:p.Arg519Leu
XM_011518143.2:c.1550G>T	XP_011516445.1:p.Arg517Leu
XM_011518145.2:c.1409G>T	XP_011516447.1:p.Arg470Leu
XM_017014205.2:c.668G>T	XP_016869694.1:p.Arg223Leu
XM_024447380.1:c.668G>T	XP_024303148.1:p.Arg223Leu
XM_024447381.1:c.974G>T	XP_024303149.1:p.Arg325Leu
XM_024447382.1:c.668G>T	XP_024303150.1:p.Arg223Leu
XR_001746160.2:n.1969G>T
XR_001746162.2:n.2174G>T
XR_001746164.1:n.1891G>T
XR_001746166.2:n.2186G>T
NM_001077365.2:c.1799G>T MANE Select	NP_001070833.1:p.Arg600Leu
NM_001077366.2:c.1637G>T	NP_001070834.1:p.Arg546Leu
NM_001136113.2:c.1799G>T	NP_001129585.1:p.Arg600Leu
NM_001136114.2:c.1448G>T	NP_001129586.1:p.Arg483Leu
NM_001353193.2:c.1865G>T	NP_001340122.2:p.Arg622Leu
NM_001353194.2:c.1637G>T	NP_001340123.1:p.Arg546Leu
NM_001353195.2:c.1448G>T	NP_001340124.1:p.Arg483Leu
NM_001353196.2:c.1709G>T	NP_001340125.1:p.Arg570Leu
NM_001353197.2:c.1703G>T	NP_001340126.2:p.Arg568Leu
NM_001353198.2:c.1703G>T	NP_001340127.2:p.Arg568Leu
NM_001353199.2:c.1514G>T	NP_001340128.2:p.Arg505Leu
NM_001353200.2:c.1343G>T	NP_001340129.1:p.Arg448Leu
NM_001374689.1:c.1787G>T	NP_001361618.1:p.Arg596Leu
NM_001374690.1:c.1580G>T	NP_001361619.1:p.Arg527Leu
NM_001374691.1:c.1448G>T	NP_001361620.1:p.Arg483Leu
NM_001374692.1:c.1448G>T	NP_001361621.1:p.Arg483Leu
NM_001374693.1:c.1448G>T	NP_001361622.1:p.Arg483Leu
NM_001374695.1:c.1409G>T	NP_001361624.1:p.Arg470Leu
NM_007171.4:c.1865G>T	NP_009102.4:p.Arg622Leu
NR_148391.2:n.1833G>T
NR_148392.2:n.2051G>T
NR_148393.2:n.1972G>T
NR_148394.2:n.1726G>T
NR_148395.2:n.2124G>T
NR_148396.2:n.1758G>T
NR_148397.2:n.1883G>T
NR_148398.2:n.1838G>T
NR_148399.2:n.2364G>T
NR_148400.2:n.1963G>T

Linked Data

Genomic Alleles

Transcript Alleles