Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522130A>C , CM000671.2:g.131522130A>C	GRCh38
NC_000009.11:g.134397517A>C , CM000671.1:g.134397517A>C	GRCh37
NC_000009.10:g.133387338A>C	NCBI36
NG_008896.1:g.24229A>C
NG_008896.2:g.24229A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1747A>C	ENSP00000343034.7:p.Lys583Gln
ENST00000404875.7:n.2449A>C
ENST00000423007.6:c.1966A>C	ENSP00000404119.2:p.Lys656Gln
ENST00000677295.2:c.*2253A>C	ENSP00000504346.2:n.*2253A>C
ENST00000678264.2:c.*2092A>C	ENSP00000503157.2:n.*2092A>C
ENST00000682070.1:n.2291-72A>C
ENST00000682813.1:n.2313A>C
ENST00000683392.1:n.4573-72A>C
ENST00000683712.1:n.2314A>C
ENST00000683900.1:n.3809A>C
ENST00000684062.1:n.2575A>C
ENST00000684579.1:n.3755A>C
ENST00000684679.1:n.1136A>C
ENST00000341012.12:c.1747A>C	ENSP00000343034.7:p.Lys583Gln
ENST00000372220.5:c.778A>C	ENSP00000361294.5:p.Lys260Gln
ENST00000372228.9:c.1975A>C	ENSP00000361302.3:p.Lys659Gln
ENST00000402686.8:c.1909A>C MANE Select	ENSP00000385797.4:p.Lys637Gln
ENST00000676640.1:c.1909A>C	ENSP00000503281.1:p.Lys637Gln
ENST00000676803.1:c.970A>C	ENSP00000503093.1:p.Lys324Gln
ENST00000676835.1:c.*1124A>C	ENSP00000502911.1:n.*1124A>C
ENST00000677029.1:c.1453A>C	ENSP00000502936.1:p.Lys485Gln
ENST00000677099.1:c.*1619A>C	ENSP00000504553.1:n.*1619A>C
ENST00000677216.1:c.1558A>C	ENSP00000503772.1:p.Lys520Gln
ENST00000677221.1:n.934A>C
ENST00000677295.1:c.*1203-72A>C	ENSP00000504346.1:n.*1203-72A>C
ENST00000677444.1:c.1854A>C
ENST00000677586.1:n.1276A>C
ENST00000677626.1:c.1558A>C	ENSP00000503552.1:p.Lys520Gln
ENST00000677853.1:c.*917A>C	ENSP00000503488.1:n.*917A>C
ENST00000678202.1:n.1068A>C
ENST00000678264.1:c.*1286A>C	ENSP00000503157.1:n.*1286A>C
ENST00000678303.1:c.1819A>C	ENSP00000503696.1:p.Lys607Gln
ENST00000678366.1:c.*2158A>C	ENSP00000504353.1:n.*2158A>C
ENST00000678546.1:c.*1854A>C	ENSP00000503062.1:n.*1854A>C
ENST00000678548.1:c.*2048A>C	ENSP00000503934.1:n.*2048A>C
ENST00000678626.1:n.1745A>C
ENST00000678739.1:c.*2147-72A>C	ENSP00000503806.1:n.*2147-72A>C
ENST00000678833.1:c.*1661A>C	ENSP00000503893.1:n.*1661A>C
ENST00000679023.1:c.1747A>C	ENSP00000503718.1:p.Lys583Gln
ENST00000679076.1:c.1528A>C
ENST00000679111.1:c.*665A>C	ENSP00000504257.1:n.*665A>C
ENST00000679189.1:c.1558A>C	ENSP00000503356.1:p.Lys520Gln
ENST00000341012.11:c.1747A>C	ENSP00000343034.7:p.Lys583Gln
ENST00000372220.4:c.772A>C	ENSP00000361294.4:p.Lys258Gln
ENST00000372228.7:c.1975A>C	ENSP00000361302.3:p.Lys659Gln
ENST00000402686.7:c.1909A>C	ENSP00000385797.3:p.Lys637Gln
ENST00000404875.6:c.1558A>C	ENSP00000384531.2:p.Lys520Gln
ENST00000423007.5:c.1909A>C	ENSP00000404119.1:p.Lys637Gln
ENST00000485278.5:n.2459A>C
ENST00000494883.1:n.452A>C
NM_001077365.1:c.1909A>C	NP_001070833.1:p.Lys637Gln
NM_001077366.1:c.1747A>C	NP_001070834.1:p.Lys583Gln
NM_001136113.1:c.1909A>C	NP_001129585.1:p.Lys637Gln
NM_001136114.1:c.1558A>C	NP_001129586.1:p.Lys520Gln
NM_007171.3:c.1975A>C	NP_009102.3:p.Lys659Gln
XM_005272156.1:c.1975A>C	XP_005272213.1:p.Lys659Gln
XM_005272158.1:c.1813A>C	XP_005272215.1:p.Lys605Gln
XM_005272159.1:c.1624A>C	XP_005272216.1:p.Lys542Gln
XM_005272162.1:c.778A>C	XP_005272219.1:p.Lys260Gln
XM_006716932.1:c.1624A>C	XP_006716995.1:p.Lys542Gln
XM_011518140.1:c.1828A>C	XP_011516442.1:p.Lys610Gln
XM_011518141.1:c.1762A>C	XP_011516443.1:p.Lys588Gln
XM_011518142.1:c.1666A>C	XP_011516444.1:p.Lys556Gln
XM_011518143.1:c.1660A>C	XP_011516445.1:p.Lys554Gln
XM_011518145.1:c.1519A>C	XP_011516447.1:p.Lys507Gln
XM_011518147.1:c.847A>C	XP_011516449.1:p.Lys283Gln
XR_929703.1:n.2151A>C
NM_001353193.1:c.1975A>C	NP_001340122.1:p.Lys659Gln
NM_001353194.1:c.1747A>C	NP_001340123.1:p.Lys583Gln
NM_001353195.1:c.1558A>C	NP_001340124.1:p.Lys520Gln
NM_001353196.1:c.1819A>C	NP_001340125.1:p.Lys607Gln
NM_001353197.1:c.1813A>C	NP_001340126.1:p.Lys605Gln
NM_001353198.1:c.1813A>C	NP_001340127.1:p.Lys605Gln
NM_001353199.1:c.1624A>C	NP_001340128.1:p.Lys542Gln
NM_001353200.1:c.1453A>C	NP_001340129.1:p.Lys485Gln
NR_148391.1:n.1959A>C
NR_148392.1:n.2177A>C
NR_148393.1:n.2098A>C
NR_148394.1:n.1852A>C
NR_148395.1:n.2250A>C
NR_148396.1:n.1884A>C
NR_148397.1:n.2009A>C
NR_148398.1:n.1964A>C
NR_148399.1:n.2490A>C
NR_148400.1:n.2089A>C
XM_005272162.3:c.778A>C	XP_005272219.1:p.Lys260Gln
XM_006716932.2:c.1624A>C	XP_006716995.1:p.Lys542Gln
XM_011518140.2:c.1828A>C	XP_011516442.1:p.Lys610Gln
XM_011518141.2:c.1762A>C	XP_011516443.1:p.Lys588Gln
XM_011518142.2:c.1666A>C	XP_011516444.1:p.Lys556Gln
XM_011518143.2:c.1660A>C	XP_011516445.1:p.Lys554Gln
XM_011518145.2:c.1519A>C	XP_011516447.1:p.Lys507Gln
XM_017014205.2:c.778A>C	XP_016869694.1:p.Lys260Gln
XM_024447380.1:c.778A>C	XP_024303148.1:p.Lys260Gln
XM_024447381.1:c.1084A>C	XP_024303149.1:p.Lys362Gln
XM_024447382.1:c.778A>C	XP_024303150.1:p.Lys260Gln
XR_001746160.2:n.2079A>C
XR_001746162.2:n.2284A>C
XR_001746164.1:n.2001A>C
XR_001746166.2:n.2296A>C
NM_001077365.2:c.1909A>C MANE Select	NP_001070833.1:p.Lys637Gln
NM_001077366.2:c.1747A>C	NP_001070834.1:p.Lys583Gln
NM_001136113.2:c.1909A>C	NP_001129585.1:p.Lys637Gln
NM_001136114.2:c.1558A>C	NP_001129586.1:p.Lys520Gln
NM_001353193.2:c.1975A>C	NP_001340122.2:p.Lys659Gln
NM_001353194.2:c.1747A>C	NP_001340123.1:p.Lys583Gln
NM_001353195.2:c.1558A>C	NP_001340124.1:p.Lys520Gln
NM_001353196.2:c.1819A>C	NP_001340125.1:p.Lys607Gln
NM_001353197.2:c.1813A>C	NP_001340126.2:p.Lys605Gln
NM_001353198.2:c.1813A>C	NP_001340127.2:p.Lys605Gln
NM_001353199.2:c.1624A>C	NP_001340128.2:p.Lys542Gln
NM_001353200.2:c.1453A>C	NP_001340129.1:p.Lys485Gln
NM_001374689.1:c.1897A>C	NP_001361618.1:p.Lys633Gln
NM_001374690.1:c.1690A>C	NP_001361619.1:p.Lys564Gln
NM_001374691.1:c.1558A>C	NP_001361620.1:p.Lys520Gln
NM_001374692.1:c.1558A>C	NP_001361621.1:p.Lys520Gln
NM_001374693.1:c.1558A>C	NP_001361622.1:p.Lys520Gln
NM_001374695.1:c.1519A>C	NP_001361624.1:p.Lys507Gln
NM_007171.4:c.1975A>C	NP_009102.4:p.Lys659Gln
NR_148391.2:n.1943A>C
NR_148392.2:n.2161A>C
NR_148393.2:n.2082A>C
NR_148394.2:n.1836A>C
NR_148395.2:n.2234A>C
NR_148396.2:n.1868A>C
NR_148397.2:n.1993A>C
NR_148398.2:n.1948A>C
NR_148399.2:n.2474A>C
NR_148400.2:n.2073A>C

Linked Data

Genomic Alleles

Transcript Alleles