Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521466C>A , CM000671.2:g.131521466C>A	GRCh38
NC_000009.11:g.134396853C>A , CM000671.1:g.134396853C>A	GRCh37
NC_000009.10:g.133386674C>A	NCBI36
NG_008896.1:g.23565C>A
NG_008896.2:g.23565C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1657C>A	ENSP00000343034.7:p.Pro553Thr
ENST00000404875.7:n.2359C>A
ENST00000423007.6:c.1876C>A	ENSP00000404119.2:p.Pro626Thr
ENST00000677295.2:c.*2163C>A	ENSP00000504346.2:n.*2163C>A
ENST00000678264.2:c.*2002C>A	ENSP00000503157.2:n.*2002C>A
ENST00000682070.1:n.2284C>A
ENST00000682813.1:n.2223C>A
ENST00000683392.1:n.4566C>A
ENST00000683712.1:n.2224C>A
ENST00000683900.1:n.3719C>A
ENST00000684062.1:n.2485C>A
ENST00000684579.1:n.3665C>A
ENST00000684679.1:n.1046C>A
ENST00000341012.12:c.1657C>A	ENSP00000343034.7:p.Pro553Thr
ENST00000372220.5:c.688C>A	ENSP00000361294.5:p.Pro230Thr
ENST00000372228.9:c.1885C>A	ENSP00000361302.3:p.Pro629Thr
ENST00000402686.8:c.1819C>A MANE Select	ENSP00000385797.4:p.Pro607Thr
ENST00000676640.1:c.1819C>A	ENSP00000503281.1:p.Pro607Thr
ENST00000676803.1:c.880C>A	ENSP00000503093.1:p.Pro294Thr
ENST00000676835.1:c.*1034C>A	ENSP00000502911.1:n.*1034C>A
ENST00000677029.1:c.1363C>A	ENSP00000502936.1:p.Pro455Thr
ENST00000677099.1:c.*1529C>A	ENSP00000504553.1:n.*1529C>A
ENST00000677216.1:c.1468C>A	ENSP00000503772.1:p.Pro490Thr
ENST00000677221.1:n.844C>A
ENST00000677295.1:c.*1196C>A	ENSP00000504346.1:n.*1196C>A
ENST00000677444.1:c.1764C>A
ENST00000677586.1:n.1186C>A
ENST00000677626.1:c.1468C>A	ENSP00000503552.1:p.Pro490Thr
ENST00000677853.1:c.*827C>A	ENSP00000503488.1:n.*827C>A
ENST00000678202.1:n.978C>A
ENST00000678264.1:c.*1196C>A	ENSP00000503157.1:n.*1196C>A
ENST00000678303.1:c.1729C>A	ENSP00000503696.1:p.Pro577Thr
ENST00000678366.1:c.*2068C>A	ENSP00000504353.1:n.*2068C>A
ENST00000678546.1:c.*1764C>A	ENSP00000503062.1:n.*1764C>A
ENST00000678548.1:c.*1891C>A	ENSP00000503934.1:n.*1891C>A
ENST00000678626.1:n.1655C>A
ENST00000678739.1:c.*2140C>A	ENSP00000503806.1:n.*2140C>A
ENST00000678833.1:c.*1571C>A	ENSP00000503893.1:n.*1571C>A
ENST00000679023.1:c.1657C>A	ENSP00000503718.1:p.Pro553Thr
ENST00000679076.1:c.1438C>A
ENST00000679111.1:c.*575C>A	ENSP00000504257.1:n.*575C>A
ENST00000679189.1:c.1468C>A	ENSP00000503356.1:p.Pro490Thr
ENST00000341012.11:c.1657C>A	ENSP00000343034.7:p.Pro553Thr
ENST00000372220.4:c.682C>A	ENSP00000361294.4:p.Pro228Thr
ENST00000372228.7:c.1885C>A	ENSP00000361302.3:p.Pro629Thr
ENST00000402686.7:c.1819C>A	ENSP00000385797.3:p.Pro607Thr
ENST00000404875.6:c.1468C>A	ENSP00000384531.2:p.Pro490Thr
ENST00000423007.5:c.1819C>A	ENSP00000404119.1:p.Pro607Thr
ENST00000485278.5:n.2369C>A
ENST00000494883.1:n.362C>A
NM_001077365.1:c.1819C>A	NP_001070833.1:p.Pro607Thr
NM_001077366.1:c.1657C>A	NP_001070834.1:p.Pro553Thr
NM_001136113.1:c.1819C>A	NP_001129585.1:p.Pro607Thr
NM_001136114.1:c.1468C>A	NP_001129586.1:p.Pro490Thr
NM_007171.3:c.1885C>A	NP_009102.3:p.Pro629Thr
XM_005272156.1:c.1885C>A	XP_005272213.1:p.Pro629Thr
XM_005272158.1:c.1723C>A	XP_005272215.1:p.Pro575Thr
XM_005272159.1:c.1534C>A	XP_005272216.1:p.Pro512Thr
XM_005272162.1:c.688C>A	XP_005272219.1:p.Pro230Thr
XM_006716932.1:c.1534C>A	XP_006716995.1:p.Pro512Thr
XM_011518140.1:c.1738C>A	XP_011516442.1:p.Pro580Thr
XM_011518141.1:c.1672C>A	XP_011516443.1:p.Pro558Thr
XM_011518142.1:c.1576C>A	XP_011516444.1:p.Pro526Thr
XM_011518143.1:c.1570C>A	XP_011516445.1:p.Pro524Thr
XM_011518145.1:c.1429C>A	XP_011516447.1:p.Pro477Thr
XM_011518147.1:c.757C>A	XP_011516449.1:p.Pro253Thr
XR_929703.1:n.2061C>A
NM_001353193.1:c.1885C>A	NP_001340122.1:p.Pro629Thr
NM_001353194.1:c.1657C>A	NP_001340123.1:p.Pro553Thr
NM_001353195.1:c.1468C>A	NP_001340124.1:p.Pro490Thr
NM_001353196.1:c.1729C>A	NP_001340125.1:p.Pro577Thr
NM_001353197.1:c.1723C>A	NP_001340126.1:p.Pro575Thr
NM_001353198.1:c.1723C>A	NP_001340127.1:p.Pro575Thr
NM_001353199.1:c.1534C>A	NP_001340128.1:p.Pro512Thr
NM_001353200.1:c.1363C>A	NP_001340129.1:p.Pro455Thr
NR_148391.1:n.1869C>A
NR_148392.1:n.2087C>A
NR_148393.1:n.2008C>A
NR_148394.1:n.1762C>A
NR_148395.1:n.2160C>A
NR_148396.1:n.1794C>A
NR_148397.1:n.1919C>A
NR_148398.1:n.1874C>A
NR_148399.1:n.2400C>A
NR_148400.1:n.1999C>A
XM_005272162.3:c.688C>A	XP_005272219.1:p.Pro230Thr
XM_006716932.2:c.1534C>A	XP_006716995.1:p.Pro512Thr
XM_011518140.2:c.1738C>A	XP_011516442.1:p.Pro580Thr
XM_011518141.2:c.1672C>A	XP_011516443.1:p.Pro558Thr
XM_011518142.2:c.1576C>A	XP_011516444.1:p.Pro526Thr
XM_011518143.2:c.1570C>A	XP_011516445.1:p.Pro524Thr
XM_011518145.2:c.1429C>A	XP_011516447.1:p.Pro477Thr
XM_017014205.2:c.688C>A	XP_016869694.1:p.Pro230Thr
XM_024447380.1:c.688C>A	XP_024303148.1:p.Pro230Thr
XM_024447381.1:c.994C>A	XP_024303149.1:p.Pro332Thr
XM_024447382.1:c.688C>A	XP_024303150.1:p.Pro230Thr
XR_001746160.2:n.1989C>A
XR_001746162.2:n.2194C>A
XR_001746164.1:n.1911C>A
XR_001746166.2:n.2206C>A
NM_001077365.2:c.1819C>A MANE Select	NP_001070833.1:p.Pro607Thr
NM_001077366.2:c.1657C>A	NP_001070834.1:p.Pro553Thr
NM_001136113.2:c.1819C>A	NP_001129585.1:p.Pro607Thr
NM_001136114.2:c.1468C>A	NP_001129586.1:p.Pro490Thr
NM_001353193.2:c.1885C>A	NP_001340122.2:p.Pro629Thr
NM_001353194.2:c.1657C>A	NP_001340123.1:p.Pro553Thr
NM_001353195.2:c.1468C>A	NP_001340124.1:p.Pro490Thr
NM_001353196.2:c.1729C>A	NP_001340125.1:p.Pro577Thr
NM_001353197.2:c.1723C>A	NP_001340126.2:p.Pro575Thr
NM_001353198.2:c.1723C>A	NP_001340127.2:p.Pro575Thr
NM_001353199.2:c.1534C>A	NP_001340128.2:p.Pro512Thr
NM_001353200.2:c.1363C>A	NP_001340129.1:p.Pro455Thr
NM_001374689.1:c.1807C>A	NP_001361618.1:p.Pro603Thr
NM_001374690.1:c.1600C>A	NP_001361619.1:p.Pro534Thr
NM_001374691.1:c.1468C>A	NP_001361620.1:p.Pro490Thr
NM_001374692.1:c.1468C>A	NP_001361621.1:p.Pro490Thr
NM_001374693.1:c.1468C>A	NP_001361622.1:p.Pro490Thr
NM_001374695.1:c.1429C>A	NP_001361624.1:p.Pro477Thr
NM_007171.4:c.1885C>A	NP_009102.4:p.Pro629Thr
NR_148391.2:n.1853C>A
NR_148392.2:n.2071C>A
NR_148393.2:n.1992C>A
NR_148394.2:n.1746C>A
NR_148395.2:n.2144C>A
NR_148396.2:n.1778C>A
NR_148397.2:n.1903C>A
NR_148398.2:n.1858C>A
NR_148399.2:n.2384C>A
NR_148400.2:n.1983C>A

Linked Data

Genomic Alleles

Transcript Alleles