Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523015C>A , CM000671.2:g.131523015C>A	GRCh38
NC_000009.11:g.134398402C>A , CM000671.1:g.134398402C>A	GRCh37
NC_000009.10:g.133388223C>A	NCBI36
NG_008896.1:g.25114C>A
NG_008896.2:g.25114C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1925C>A	ENSP00000343034.7:p.Pro642Gln
ENST00000404875.7:n.2627C>A
ENST00000423007.6:c.2144C>A	ENSP00000404119.2:p.Pro715Gln
ENST00000677295.2:c.*2431C>A	ENSP00000504346.2:n.*2431C>A
ENST00000678264.2:c.*2270C>A	ENSP00000503157.2:n.*2270C>A
ENST00000682070.1:n.2397C>A
ENST00000682639.1:c.84C>A
ENST00000682813.1:n.2484C>A
ENST00000683231.1:c.84C>A
ENST00000683392.1:n.4679C>A
ENST00000683712.1:n.2492C>A
ENST00000683900.1:n.3987C>A
ENST00000684062.1:n.2753C>A
ENST00000684399.1:c.84C>A
ENST00000684579.1:n.3933C>A
ENST00000341012.12:c.1925C>A	ENSP00000343034.7:p.Pro642Gln
ENST00000372220.5:c.956C>A	ENSP00000361294.5:p.Pro319Gln
ENST00000372228.9:c.2153C>A	ENSP00000361302.3:p.Pro718Gln
ENST00000402686.8:c.2087C>A MANE Select	ENSP00000385797.4:p.Pro696Gln
ENST00000676640.1:c.2087C>A	ENSP00000503281.1:p.Pro696Gln
ENST00000676803.1:c.1148C>A	ENSP00000503093.1:p.Pro383Gln
ENST00000676835.1:c.*1302C>A	ENSP00000502911.1:n.*1302C>A
ENST00000677029.1:c.1631C>A	ENSP00000502936.1:p.Pro544Gln
ENST00000677099.1:c.*1797C>A	ENSP00000504553.1:n.*1797C>A
ENST00000677216.1:c.1736C>A	ENSP00000503772.1:p.Pro579Gln
ENST00000677221.1:n.1112C>A
ENST00000677295.1:c.*1309C>A	ENSP00000504346.1:n.*1309C>A
ENST00000677444.1:c.2032C>A
ENST00000677586.1:n.1454C>A
ENST00000677626.1:c.1736C>A	ENSP00000503552.1:p.Pro579Gln
ENST00000677853.1:c.*1095C>A	ENSP00000503488.1:n.*1095C>A
ENST00000678264.1:c.*1464C>A	ENSP00000503157.1:n.*1464C>A
ENST00000678303.1:c.1997C>A	ENSP00000503696.1:p.Pro666Gln
ENST00000678366.1:c.*2336C>A	ENSP00000504353.1:n.*2336C>A
ENST00000678546.1:c.*2032C>A	ENSP00000503062.1:n.*2032C>A
ENST00000678548.1:c.*2226C>A	ENSP00000503934.1:n.*2226C>A
ENST00000678626.1:n.1923C>A
ENST00000678739.1:c.*2253C>A	ENSP00000503806.1:n.*2253C>A
ENST00000678833.1:c.*1839C>A	ENSP00000503893.1:n.*1839C>A
ENST00000679023.1:c.1925C>A	ENSP00000503718.1:p.Pro642Gln
ENST00000679076.1:c.1706C>A
ENST00000679111.1:c.*843C>A	ENSP00000504257.1:n.*843C>A
ENST00000679189.1:c.1736C>A	ENSP00000503356.1:p.Pro579Gln
ENST00000341012.11:c.1925C>A	ENSP00000343034.7:p.Pro642Gln
ENST00000372220.4:c.950C>A	ENSP00000361294.4:p.Pro317Gln
ENST00000372228.7:c.2153C>A	ENSP00000361302.3:p.Pro718Gln
ENST00000402686.7:c.2087C>A	ENSP00000385797.3:p.Pro696Gln
ENST00000404875.6:c.1736C>A	ENSP00000384531.2:p.Pro579Gln
ENST00000423007.5:c.2087C>A	ENSP00000404119.1:p.Pro696Gln
ENST00000485278.5:n.2637C>A
NM_001077365.1:c.2087C>A	NP_001070833.1:p.Pro696Gln
NM_001077366.1:c.1925C>A	NP_001070834.1:p.Pro642Gln
NM_001136113.1:c.2087C>A	NP_001129585.1:p.Pro696Gln
NM_001136114.1:c.1736C>A	NP_001129586.1:p.Pro579Gln
NM_007171.3:c.2153C>A	NP_009102.3:p.Pro718Gln
XM_005272156.1:c.2153C>A	XP_005272213.1:p.Pro718Gln
XM_005272158.1:c.1991C>A	XP_005272215.1:p.Pro664Gln
XM_005272159.1:c.1802C>A	XP_005272216.1:p.Pro601Gln
XM_005272162.1:c.956C>A	XP_005272219.1:p.Pro319Gln
XM_006716932.1:c.1802C>A	XP_006716995.1:p.Pro601Gln
XM_011518140.1:c.2006C>A	XP_011516442.1:p.Pro669Gln
XM_011518141.1:c.1940C>A	XP_011516443.1:p.Pro647Gln
XM_011518142.1:c.1844C>A	XP_011516444.1:p.Pro615Gln
XM_011518143.1:c.1838C>A	XP_011516445.1:p.Pro613Gln
XM_011518145.1:c.1697C>A	XP_011516447.1:p.Pro566Gln
XM_011518147.1:c.1025C>A	XP_011516449.1:p.Pro342Gln
XR_929703.1:n.2329C>A
NM_001353193.1:c.2153C>A	NP_001340122.1:p.Pro718Gln
NM_001353194.1:c.1925C>A	NP_001340123.1:p.Pro642Gln
NM_001353195.1:c.1736C>A	NP_001340124.1:p.Pro579Gln
NM_001353196.1:c.1997C>A	NP_001340125.1:p.Pro666Gln
NM_001353197.1:c.1991C>A	NP_001340126.1:p.Pro664Gln
NM_001353198.1:c.1991C>A	NP_001340127.1:p.Pro664Gln
NM_001353199.1:c.1802C>A	NP_001340128.1:p.Pro601Gln
NM_001353200.1:c.1631C>A	NP_001340129.1:p.Pro544Gln
NR_148391.1:n.2137C>A
NR_148392.1:n.2355C>A
NR_148393.1:n.2276C>A
NR_148394.1:n.2030C>A
NR_148395.1:n.2428C>A
NR_148396.1:n.2062C>A
NR_148397.1:n.2187C>A
NR_148398.1:n.2142C>A
NR_148399.1:n.2668C>A
NR_148400.1:n.2267C>A
XM_005272162.3:c.956C>A	XP_005272219.1:p.Pro319Gln
XM_006716932.2:c.1802C>A	XP_006716995.1:p.Pro601Gln
XM_011518140.2:c.2006C>A	XP_011516442.1:p.Pro669Gln
XM_011518141.2:c.1940C>A	XP_011516443.1:p.Pro647Gln
XM_011518142.2:c.1844C>A	XP_011516444.1:p.Pro615Gln
XM_011518143.2:c.1838C>A	XP_011516445.1:p.Pro613Gln
XM_011518145.2:c.1697C>A	XP_011516447.1:p.Pro566Gln
XM_017014205.2:c.956C>A	XP_016869694.1:p.Pro319Gln
XM_024447380.1:c.956C>A	XP_024303148.1:p.Pro319Gln
XM_024447381.1:c.1262C>A	XP_024303149.1:p.Pro421Gln
XM_024447382.1:c.956C>A	XP_024303150.1:p.Pro319Gln
XR_001746160.2:n.2257C>A
XR_001746162.2:n.2462C>A
XR_001746164.1:n.2179C>A
XR_001746166.2:n.2474C>A
NM_001077365.2:c.2087C>A MANE Select	NP_001070833.1:p.Pro696Gln
NM_001077366.2:c.1925C>A	NP_001070834.1:p.Pro642Gln
NM_001136113.2:c.2087C>A	NP_001129585.1:p.Pro696Gln
NM_001136114.2:c.1736C>A	NP_001129586.1:p.Pro579Gln
NM_001353193.2:c.2153C>A	NP_001340122.2:p.Pro718Gln
NM_001353194.2:c.1925C>A	NP_001340123.1:p.Pro642Gln
NM_001353195.2:c.1736C>A	NP_001340124.1:p.Pro579Gln
NM_001353196.2:c.1997C>A	NP_001340125.1:p.Pro666Gln
NM_001353197.2:c.1991C>A	NP_001340126.2:p.Pro664Gln
NM_001353198.2:c.1991C>A	NP_001340127.2:p.Pro664Gln
NM_001353199.2:c.1802C>A	NP_001340128.2:p.Pro601Gln
NM_001353200.2:c.1631C>A	NP_001340129.1:p.Pro544Gln
NM_001374689.1:c.2075C>A	NP_001361618.1:p.Pro692Gln
NM_001374690.1:c.1868C>A	NP_001361619.1:p.Pro623Gln
NM_001374691.1:c.1736C>A	NP_001361620.1:p.Pro579Gln
NM_001374692.1:c.1736C>A	NP_001361621.1:p.Pro579Gln
NM_001374693.1:c.1736C>A	NP_001361622.1:p.Pro579Gln
NM_001374695.1:c.1697C>A	NP_001361624.1:p.Pro566Gln
NM_007171.4:c.2153C>A	NP_009102.4:p.Pro718Gln
NR_148391.2:n.2121C>A
NR_148392.2:n.2339C>A
NR_148393.2:n.2260C>A
NR_148394.2:n.2014C>A
NR_148395.2:n.2412C>A
NR_148396.2:n.2046C>A
NR_148397.2:n.2171C>A
NR_148398.2:n.2126C>A
NR_148399.2:n.2652C>A
NR_148400.2:n.2251C>A

Linked Data

Genomic Alleles

Transcript Alleles