Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522157C>A , CM000671.2:g.131522157C>A	GRCh38
NC_000009.11:g.134397544C>A , CM000671.1:g.134397544C>A	GRCh37
NC_000009.10:g.133387365C>A	NCBI36
NG_008896.1:g.24256C>A
NG_008896.2:g.24256C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1774C>A	ENSP00000343034.7:p.Pro592Thr
ENST00000404875.7:n.2476C>A
ENST00000423007.6:c.1993C>A	ENSP00000404119.2:p.Pro665Thr
ENST00000677295.2:c.*2280C>A	ENSP00000504346.2:n.*2280C>A
ENST00000678264.2:c.*2119C>A	ENSP00000503157.2:n.*2119C>A
ENST00000682070.1:n.2291-45C>A
ENST00000682813.1:n.2340C>A
ENST00000683392.1:n.4573-45C>A
ENST00000683712.1:n.2341C>A
ENST00000683900.1:n.3836C>A
ENST00000684062.1:n.2602C>A
ENST00000684579.1:n.3782C>A
ENST00000684679.1:n.1163C>A
ENST00000341012.12:c.1774C>A	ENSP00000343034.7:p.Pro592Thr
ENST00000372220.5:c.805C>A	ENSP00000361294.5:p.Pro269Thr
ENST00000372228.9:c.2002C>A	ENSP00000361302.3:p.Pro668Thr
ENST00000402686.8:c.1936C>A MANE Select	ENSP00000385797.4:p.Pro646Thr
ENST00000676640.1:c.1936C>A	ENSP00000503281.1:p.Pro646Thr
ENST00000676803.1:c.997C>A	ENSP00000503093.1:p.Pro333Thr
ENST00000676835.1:c.*1151C>A	ENSP00000502911.1:n.*1151C>A
ENST00000677029.1:c.1480C>A	ENSP00000502936.1:p.Pro494Thr
ENST00000677099.1:c.*1646C>A	ENSP00000504553.1:n.*1646C>A
ENST00000677216.1:c.1585C>A	ENSP00000503772.1:p.Pro529Thr
ENST00000677221.1:n.961C>A
ENST00000677295.1:c.*1203-45C>A	ENSP00000504346.1:n.*1203-45C>A
ENST00000677444.1:c.1881C>A
ENST00000677586.1:n.1303C>A
ENST00000677626.1:c.1585C>A	ENSP00000503552.1:p.Pro529Thr
ENST00000677853.1:c.*944C>A	ENSP00000503488.1:n.*944C>A
ENST00000678202.1:n.1095C>A
ENST00000678264.1:c.*1313C>A	ENSP00000503157.1:n.*1313C>A
ENST00000678303.1:c.1846C>A	ENSP00000503696.1:p.Pro616Thr
ENST00000678366.1:c.*2185C>A	ENSP00000504353.1:n.*2185C>A
ENST00000678546.1:c.*1881C>A	ENSP00000503062.1:n.*1881C>A
ENST00000678548.1:c.*2075C>A	ENSP00000503934.1:n.*2075C>A
ENST00000678626.1:n.1772C>A
ENST00000678739.1:c.*2147-45C>A	ENSP00000503806.1:n.*2147-45C>A
ENST00000678833.1:c.*1688C>A	ENSP00000503893.1:n.*1688C>A
ENST00000679023.1:c.1774C>A	ENSP00000503718.1:p.Pro592Thr
ENST00000679076.1:c.1555C>A
ENST00000679111.1:c.*692C>A	ENSP00000504257.1:n.*692C>A
ENST00000679189.1:c.1585C>A	ENSP00000503356.1:p.Pro529Thr
ENST00000341012.11:c.1774C>A	ENSP00000343034.7:p.Pro592Thr
ENST00000372220.4:c.799C>A	ENSP00000361294.4:p.Pro267Thr
ENST00000372228.7:c.2002C>A	ENSP00000361302.3:p.Pro668Thr
ENST00000402686.7:c.1936C>A	ENSP00000385797.3:p.Pro646Thr
ENST00000404875.6:c.1585C>A	ENSP00000384531.2:p.Pro529Thr
ENST00000423007.5:c.1936C>A	ENSP00000404119.1:p.Pro646Thr
ENST00000485278.5:n.2486C>A
ENST00000494883.1:n.479C>A
NM_001077365.1:c.1936C>A	NP_001070833.1:p.Pro646Thr
NM_001077366.1:c.1774C>A	NP_001070834.1:p.Pro592Thr
NM_001136113.1:c.1936C>A	NP_001129585.1:p.Pro646Thr
NM_001136114.1:c.1585C>A	NP_001129586.1:p.Pro529Thr
NM_007171.3:c.2002C>A	NP_009102.3:p.Pro668Thr
XM_005272156.1:c.2002C>A	XP_005272213.1:p.Pro668Thr
XM_005272158.1:c.1840C>A	XP_005272215.1:p.Pro614Thr
XM_005272159.1:c.1651C>A	XP_005272216.1:p.Pro551Thr
XM_005272162.1:c.805C>A	XP_005272219.1:p.Pro269Thr
XM_006716932.1:c.1651C>A	XP_006716995.1:p.Pro551Thr
XM_011518140.1:c.1855C>A	XP_011516442.1:p.Pro619Thr
XM_011518141.1:c.1789C>A	XP_011516443.1:p.Pro597Thr
XM_011518142.1:c.1693C>A	XP_011516444.1:p.Pro565Thr
XM_011518143.1:c.1687C>A	XP_011516445.1:p.Pro563Thr
XM_011518145.1:c.1546C>A	XP_011516447.1:p.Pro516Thr
XM_011518147.1:c.874C>A	XP_011516449.1:p.Pro292Thr
XR_929703.1:n.2178C>A
NM_001353193.1:c.2002C>A	NP_001340122.1:p.Pro668Thr
NM_001353194.1:c.1774C>A	NP_001340123.1:p.Pro592Thr
NM_001353195.1:c.1585C>A	NP_001340124.1:p.Pro529Thr
NM_001353196.1:c.1846C>A	NP_001340125.1:p.Pro616Thr
NM_001353197.1:c.1840C>A	NP_001340126.1:p.Pro614Thr
NM_001353198.1:c.1840C>A	NP_001340127.1:p.Pro614Thr
NM_001353199.1:c.1651C>A	NP_001340128.1:p.Pro551Thr
NM_001353200.1:c.1480C>A	NP_001340129.1:p.Pro494Thr
NR_148391.1:n.1986C>A
NR_148392.1:n.2204C>A
NR_148393.1:n.2125C>A
NR_148394.1:n.1879C>A
NR_148395.1:n.2277C>A
NR_148396.1:n.1911C>A
NR_148397.1:n.2036C>A
NR_148398.1:n.1991C>A
NR_148399.1:n.2517C>A
NR_148400.1:n.2116C>A
XM_005272162.3:c.805C>A	XP_005272219.1:p.Pro269Thr
XM_006716932.2:c.1651C>A	XP_006716995.1:p.Pro551Thr
XM_011518140.2:c.1855C>A	XP_011516442.1:p.Pro619Thr
XM_011518141.2:c.1789C>A	XP_011516443.1:p.Pro597Thr
XM_011518142.2:c.1693C>A	XP_011516444.1:p.Pro565Thr
XM_011518143.2:c.1687C>A	XP_011516445.1:p.Pro563Thr
XM_011518145.2:c.1546C>A	XP_011516447.1:p.Pro516Thr
XM_017014205.2:c.805C>A	XP_016869694.1:p.Pro269Thr
XM_024447380.1:c.805C>A	XP_024303148.1:p.Pro269Thr
XM_024447381.1:c.1111C>A	XP_024303149.1:p.Pro371Thr
XM_024447382.1:c.805C>A	XP_024303150.1:p.Pro269Thr
XR_001746160.2:n.2106C>A
XR_001746162.2:n.2311C>A
XR_001746164.1:n.2028C>A
XR_001746166.2:n.2323C>A
NM_001077365.2:c.1936C>A MANE Select	NP_001070833.1:p.Pro646Thr
NM_001077366.2:c.1774C>A	NP_001070834.1:p.Pro592Thr
NM_001136113.2:c.1936C>A	NP_001129585.1:p.Pro646Thr
NM_001136114.2:c.1585C>A	NP_001129586.1:p.Pro529Thr
NM_001353193.2:c.2002C>A	NP_001340122.2:p.Pro668Thr
NM_001353194.2:c.1774C>A	NP_001340123.1:p.Pro592Thr
NM_001353195.2:c.1585C>A	NP_001340124.1:p.Pro529Thr
NM_001353196.2:c.1846C>A	NP_001340125.1:p.Pro616Thr
NM_001353197.2:c.1840C>A	NP_001340126.2:p.Pro614Thr
NM_001353198.2:c.1840C>A	NP_001340127.2:p.Pro614Thr
NM_001353199.2:c.1651C>A	NP_001340128.2:p.Pro551Thr
NM_001353200.2:c.1480C>A	NP_001340129.1:p.Pro494Thr
NM_001374689.1:c.1924C>A	NP_001361618.1:p.Pro642Thr
NM_001374690.1:c.1717C>A	NP_001361619.1:p.Pro573Thr
NM_001374691.1:c.1585C>A	NP_001361620.1:p.Pro529Thr
NM_001374692.1:c.1585C>A	NP_001361621.1:p.Pro529Thr
NM_001374693.1:c.1585C>A	NP_001361622.1:p.Pro529Thr
NM_001374695.1:c.1546C>A	NP_001361624.1:p.Pro516Thr
NM_007171.4:c.2002C>A	NP_009102.4:p.Pro668Thr
NR_148391.2:n.1970C>A
NR_148392.2:n.2188C>A
NR_148393.2:n.2109C>A
NR_148394.2:n.1863C>A
NR_148395.2:n.2261C>A
NR_148396.2:n.1895C>A
NR_148397.2:n.2020C>A
NR_148398.2:n.1975C>A
NR_148399.2:n.2501C>A
NR_148400.2:n.2100C>A

Linked Data

Genomic Alleles

Transcript Alleles