Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521458A>C , CM000671.2:g.131521458A>C	GRCh38
NC_000009.11:g.134396845A>C , CM000671.1:g.134396845A>C	GRCh37
NC_000009.10:g.133386666A>C	NCBI36
NG_008896.1:g.23557A>C
NG_008896.2:g.23557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1649A>C	ENSP00000343034.7:p.His550Pro
ENST00000404875.7:n.2351A>C
ENST00000423007.6:c.1868A>C	ENSP00000404119.2:p.His623Pro
ENST00000677295.2:c.*2155A>C	ENSP00000504346.2:n.*2155A>C
ENST00000678264.2:c.*1994A>C	ENSP00000503157.2:n.*1994A>C
ENST00000682070.1:n.2276A>C
ENST00000682813.1:n.2215A>C
ENST00000683392.1:n.4558A>C
ENST00000683712.1:n.2216A>C
ENST00000683900.1:n.3711A>C
ENST00000684062.1:n.2477A>C
ENST00000684579.1:n.3657A>C
ENST00000684679.1:n.1038A>C
ENST00000341012.12:c.1649A>C	ENSP00000343034.7:p.His550Pro
ENST00000372220.5:c.680A>C	ENSP00000361294.5:p.His227Pro
ENST00000372228.9:c.1877A>C	ENSP00000361302.3:p.His626Pro
ENST00000402686.8:c.1811A>C MANE Select	ENSP00000385797.4:p.His604Pro
ENST00000676640.1:c.1811A>C	ENSP00000503281.1:p.His604Pro
ENST00000676803.1:c.872A>C	ENSP00000503093.1:p.His291Pro
ENST00000676835.1:c.*1026A>C	ENSP00000502911.1:n.*1026A>C
ENST00000677029.1:c.1355A>C	ENSP00000502936.1:p.His452Pro
ENST00000677099.1:c.*1521A>C	ENSP00000504553.1:n.*1521A>C
ENST00000677216.1:c.1460A>C	ENSP00000503772.1:p.His487Pro
ENST00000677221.1:n.836A>C
ENST00000677295.1:c.*1188A>C	ENSP00000504346.1:n.*1188A>C
ENST00000677444.1:c.1756A>C
ENST00000677586.1:n.1178A>C
ENST00000677626.1:c.1460A>C	ENSP00000503552.1:p.His487Pro
ENST00000677853.1:c.*819A>C	ENSP00000503488.1:n.*819A>C
ENST00000678202.1:n.970A>C
ENST00000678264.1:c.*1188A>C	ENSP00000503157.1:n.*1188A>C
ENST00000678303.1:c.1721A>C	ENSP00000503696.1:p.His574Pro
ENST00000678366.1:c.*2060A>C	ENSP00000504353.1:n.*2060A>C
ENST00000678546.1:c.*1756A>C	ENSP00000503062.1:n.*1756A>C
ENST00000678548.1:c.*1883A>C	ENSP00000503934.1:n.*1883A>C
ENST00000678626.1:n.1647A>C
ENST00000678739.1:c.*2132A>C	ENSP00000503806.1:n.*2132A>C
ENST00000678833.1:c.*1563A>C	ENSP00000503893.1:n.*1563A>C
ENST00000679023.1:c.1649A>C	ENSP00000503718.1:p.His550Pro
ENST00000679076.1:c.1430A>C
ENST00000679111.1:c.*567A>C	ENSP00000504257.1:n.*567A>C
ENST00000679189.1:c.1460A>C	ENSP00000503356.1:p.His487Pro
ENST00000341012.11:c.1649A>C	ENSP00000343034.7:p.His550Pro
ENST00000372220.4:c.674A>C	ENSP00000361294.4:p.His225Pro
ENST00000372228.7:c.1877A>C	ENSP00000361302.3:p.His626Pro
ENST00000402686.7:c.1811A>C	ENSP00000385797.3:p.His604Pro
ENST00000404875.6:c.1460A>C	ENSP00000384531.2:p.His487Pro
ENST00000423007.5:c.1811A>C	ENSP00000404119.1:p.His604Pro
ENST00000485278.5:n.2361A>C
ENST00000494883.1:n.354A>C
NM_001077365.1:c.1811A>C	NP_001070833.1:p.His604Pro
NM_001077366.1:c.1649A>C	NP_001070834.1:p.His550Pro
NM_001136113.1:c.1811A>C	NP_001129585.1:p.His604Pro
NM_001136114.1:c.1460A>C	NP_001129586.1:p.His487Pro
NM_007171.3:c.1877A>C	NP_009102.3:p.His626Pro
XM_005272156.1:c.1877A>C	XP_005272213.1:p.His626Pro
XM_005272158.1:c.1715A>C	XP_005272215.1:p.His572Pro
XM_005272159.1:c.1526A>C	XP_005272216.1:p.His509Pro
XM_005272162.1:c.680A>C	XP_005272219.1:p.His227Pro
XM_006716932.1:c.1526A>C	XP_006716995.1:p.His509Pro
XM_011518140.1:c.1730A>C	XP_011516442.1:p.His577Pro
XM_011518141.1:c.1664A>C	XP_011516443.1:p.His555Pro
XM_011518142.1:c.1568A>C	XP_011516444.1:p.His523Pro
XM_011518143.1:c.1562A>C	XP_011516445.1:p.His521Pro
XM_011518145.1:c.1421A>C	XP_011516447.1:p.His474Pro
XM_011518147.1:c.749A>C	XP_011516449.1:p.His250Pro
XR_929703.1:n.2053A>C
NM_001353193.1:c.1877A>C	NP_001340122.1:p.His626Pro
NM_001353194.1:c.1649A>C	NP_001340123.1:p.His550Pro
NM_001353195.1:c.1460A>C	NP_001340124.1:p.His487Pro
NM_001353196.1:c.1721A>C	NP_001340125.1:p.His574Pro
NM_001353197.1:c.1715A>C	NP_001340126.1:p.His572Pro
NM_001353198.1:c.1715A>C	NP_001340127.1:p.His572Pro
NM_001353199.1:c.1526A>C	NP_001340128.1:p.His509Pro
NM_001353200.1:c.1355A>C	NP_001340129.1:p.His452Pro
NR_148391.1:n.1861A>C
NR_148392.1:n.2079A>C
NR_148393.1:n.2000A>C
NR_148394.1:n.1754A>C
NR_148395.1:n.2152A>C
NR_148396.1:n.1786A>C
NR_148397.1:n.1911A>C
NR_148398.1:n.1866A>C
NR_148399.1:n.2392A>C
NR_148400.1:n.1991A>C
XM_005272162.3:c.680A>C	XP_005272219.1:p.His227Pro
XM_006716932.2:c.1526A>C	XP_006716995.1:p.His509Pro
XM_011518140.2:c.1730A>C	XP_011516442.1:p.His577Pro
XM_011518141.2:c.1664A>C	XP_011516443.1:p.His555Pro
XM_011518142.2:c.1568A>C	XP_011516444.1:p.His523Pro
XM_011518143.2:c.1562A>C	XP_011516445.1:p.His521Pro
XM_011518145.2:c.1421A>C	XP_011516447.1:p.His474Pro
XM_017014205.2:c.680A>C	XP_016869694.1:p.His227Pro
XM_024447380.1:c.680A>C	XP_024303148.1:p.His227Pro
XM_024447381.1:c.986A>C	XP_024303149.1:p.His329Pro
XM_024447382.1:c.680A>C	XP_024303150.1:p.His227Pro
XR_001746160.2:n.1981A>C
XR_001746162.2:n.2186A>C
XR_001746164.1:n.1903A>C
XR_001746166.2:n.2198A>C
NM_001077365.2:c.1811A>C MANE Select	NP_001070833.1:p.His604Pro
NM_001077366.2:c.1649A>C	NP_001070834.1:p.His550Pro
NM_001136113.2:c.1811A>C	NP_001129585.1:p.His604Pro
NM_001136114.2:c.1460A>C	NP_001129586.1:p.His487Pro
NM_001353193.2:c.1877A>C	NP_001340122.2:p.His626Pro
NM_001353194.2:c.1649A>C	NP_001340123.1:p.His550Pro
NM_001353195.2:c.1460A>C	NP_001340124.1:p.His487Pro
NM_001353196.2:c.1721A>C	NP_001340125.1:p.His574Pro
NM_001353197.2:c.1715A>C	NP_001340126.2:p.His572Pro
NM_001353198.2:c.1715A>C	NP_001340127.2:p.His572Pro
NM_001353199.2:c.1526A>C	NP_001340128.2:p.His509Pro
NM_001353200.2:c.1355A>C	NP_001340129.1:p.His452Pro
NM_001374689.1:c.1799A>C	NP_001361618.1:p.His600Pro
NM_001374690.1:c.1592A>C	NP_001361619.1:p.His531Pro
NM_001374691.1:c.1460A>C	NP_001361620.1:p.His487Pro
NM_001374692.1:c.1460A>C	NP_001361621.1:p.His487Pro
NM_001374693.1:c.1460A>C	NP_001361622.1:p.His487Pro
NM_001374695.1:c.1421A>C	NP_001361624.1:p.His474Pro
NM_007171.4:c.1877A>C	NP_009102.4:p.His626Pro
NR_148391.2:n.1845A>C
NR_148392.2:n.2063A>C
NR_148393.2:n.1984A>C
NR_148394.2:n.1738A>C
NR_148395.2:n.2136A>C
NR_148396.2:n.1770A>C
NR_148397.2:n.1895A>C
NR_148398.2:n.1850A>C
NR_148399.2:n.2376A>C
NR_148400.2:n.1975A>C

Linked Data

Genomic Alleles

Transcript Alleles