Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522936C>A , CM000671.2:g.131522936C>A	GRCh38
NC_000009.11:g.134398323C>A , CM000671.1:g.134398323C>A	GRCh37
NC_000009.10:g.133388144C>A	NCBI36
NG_008896.1:g.25035C>A
NG_008896.2:g.25035C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1846C>A	ENSP00000343034.7:p.Gln616Lys
ENST00000404875.7:n.2548C>A
ENST00000423007.6:c.2065C>A	ENSP00000404119.2:p.Gln689Lys
ENST00000677295.2:c.*2352C>A	ENSP00000504346.2:n.*2352C>A
ENST00000678264.2:c.*2191C>A	ENSP00000503157.2:n.*2191C>A
ENST00000682070.1:n.2318C>A
ENST00000682639.1:c.5C>A
ENST00000682813.1:n.2408-3C>A
ENST00000683231.1:c.5C>A
ENST00000683392.1:n.4600C>A
ENST00000683712.1:n.2413C>A
ENST00000683900.1:n.3908C>A
ENST00000684062.1:n.2674C>A
ENST00000684399.1:c.5C>A
ENST00000684579.1:n.3854C>A
ENST00000341012.12:c.1846C>A	ENSP00000343034.7:p.Gln616Lys
ENST00000372220.5:c.877C>A	ENSP00000361294.5:p.Gln293Lys
ENST00000372228.9:c.2074C>A	ENSP00000361302.3:p.Gln692Lys
ENST00000402686.8:c.2008C>A MANE Select	ENSP00000385797.4:p.Gln670Lys
ENST00000676640.1:c.2008C>A	ENSP00000503281.1:p.Gln670Lys
ENST00000676803.1:c.1069C>A	ENSP00000503093.1:p.Gln357Lys
ENST00000676835.1:c.*1223C>A	ENSP00000502911.1:n.*1223C>A
ENST00000677029.1:c.1552C>A	ENSP00000502936.1:p.Gln518Lys
ENST00000677099.1:c.*1718C>A	ENSP00000504553.1:n.*1718C>A
ENST00000677216.1:c.1657C>A	ENSP00000503772.1:p.Gln553Lys
ENST00000677221.1:n.1033C>A
ENST00000677295.1:c.*1230C>A	ENSP00000504346.1:n.*1230C>A
ENST00000677444.1:c.1953C>A
ENST00000677586.1:n.1375C>A
ENST00000677626.1:c.1657C>A	ENSP00000503552.1:p.Gln553Lys
ENST00000677853.1:c.*1016C>A	ENSP00000503488.1:n.*1016C>A
ENST00000678264.1:c.*1385C>A	ENSP00000503157.1:n.*1385C>A
ENST00000678303.1:c.1918C>A	ENSP00000503696.1:p.Gln640Lys
ENST00000678366.1:c.*2257C>A	ENSP00000504353.1:n.*2257C>A
ENST00000678546.1:c.*1953C>A	ENSP00000503062.1:n.*1953C>A
ENST00000678548.1:c.*2147C>A	ENSP00000503934.1:n.*2147C>A
ENST00000678626.1:n.1844C>A
ENST00000678739.1:c.*2174C>A	ENSP00000503806.1:n.*2174C>A
ENST00000678833.1:c.*1760C>A	ENSP00000503893.1:n.*1760C>A
ENST00000679023.1:c.1846C>A	ENSP00000503718.1:p.Gln616Lys
ENST00000679076.1:c.1627C>A
ENST00000679111.1:c.*764C>A	ENSP00000504257.1:n.*764C>A
ENST00000679189.1:c.1657C>A	ENSP00000503356.1:p.Gln553Lys
ENST00000341012.11:c.1846C>A	ENSP00000343034.7:p.Gln616Lys
ENST00000372220.4:c.871C>A	ENSP00000361294.4:p.Gln291Lys
ENST00000372228.7:c.2074C>A	ENSP00000361302.3:p.Gln692Lys
ENST00000402686.7:c.2008C>A	ENSP00000385797.3:p.Gln670Lys
ENST00000404875.6:c.1657C>A	ENSP00000384531.2:p.Gln553Lys
ENST00000423007.5:c.2008C>A	ENSP00000404119.1:p.Gln670Lys
ENST00000485278.5:n.2558C>A
NM_001077365.1:c.2008C>A	NP_001070833.1:p.Gln670Lys
NM_001077366.1:c.1846C>A	NP_001070834.1:p.Gln616Lys
NM_001136113.1:c.2008C>A	NP_001129585.1:p.Gln670Lys
NM_001136114.1:c.1657C>A	NP_001129586.1:p.Gln553Lys
NM_007171.3:c.2074C>A	NP_009102.3:p.Gln692Lys
XM_005272156.1:c.2074C>A	XP_005272213.1:p.Gln692Lys
XM_005272158.1:c.1912C>A	XP_005272215.1:p.Gln638Lys
XM_005272159.1:c.1723C>A	XP_005272216.1:p.Gln575Lys
XM_005272162.1:c.877C>A	XP_005272219.1:p.Gln293Lys
XM_006716932.1:c.1723C>A	XP_006716995.1:p.Gln575Lys
XM_011518140.1:c.1927C>A	XP_011516442.1:p.Gln643Lys
XM_011518141.1:c.1861C>A	XP_011516443.1:p.Gln621Lys
XM_011518142.1:c.1765C>A	XP_011516444.1:p.Gln589Lys
XM_011518143.1:c.1759C>A	XP_011516445.1:p.Gln587Lys
XM_011518145.1:c.1618C>A	XP_011516447.1:p.Gln540Lys
XM_011518147.1:c.946C>A	XP_011516449.1:p.Gln316Lys
XR_929703.1:n.2250C>A
NM_001353193.1:c.2074C>A	NP_001340122.1:p.Gln692Lys
NM_001353194.1:c.1846C>A	NP_001340123.1:p.Gln616Lys
NM_001353195.1:c.1657C>A	NP_001340124.1:p.Gln553Lys
NM_001353196.1:c.1918C>A	NP_001340125.1:p.Gln640Lys
NM_001353197.1:c.1912C>A	NP_001340126.1:p.Gln638Lys
NM_001353198.1:c.1912C>A	NP_001340127.1:p.Gln638Lys
NM_001353199.1:c.1723C>A	NP_001340128.1:p.Gln575Lys
NM_001353200.1:c.1552C>A	NP_001340129.1:p.Gln518Lys
NR_148391.1:n.2058C>A
NR_148392.1:n.2276C>A
NR_148393.1:n.2197C>A
NR_148394.1:n.1951C>A
NR_148395.1:n.2349C>A
NR_148396.1:n.1983C>A
NR_148397.1:n.2108C>A
NR_148398.1:n.2063C>A
NR_148399.1:n.2589C>A
NR_148400.1:n.2188C>A
XM_005272162.3:c.877C>A	XP_005272219.1:p.Gln293Lys
XM_006716932.2:c.1723C>A	XP_006716995.1:p.Gln575Lys
XM_011518140.2:c.1927C>A	XP_011516442.1:p.Gln643Lys
XM_011518141.2:c.1861C>A	XP_011516443.1:p.Gln621Lys
XM_011518142.2:c.1765C>A	XP_011516444.1:p.Gln589Lys
XM_011518143.2:c.1759C>A	XP_011516445.1:p.Gln587Lys
XM_011518145.2:c.1618C>A	XP_011516447.1:p.Gln540Lys
XM_017014205.2:c.877C>A	XP_016869694.1:p.Gln293Lys
XM_024447380.1:c.877C>A	XP_024303148.1:p.Gln293Lys
XM_024447381.1:c.1183C>A	XP_024303149.1:p.Gln395Lys
XM_024447382.1:c.877C>A	XP_024303150.1:p.Gln293Lys
XR_001746160.2:n.2178C>A
XR_001746162.2:n.2383C>A
XR_001746164.1:n.2100C>A
XR_001746166.2:n.2395C>A
NM_001077365.2:c.2008C>A MANE Select	NP_001070833.1:p.Gln670Lys
NM_001077366.2:c.1846C>A	NP_001070834.1:p.Gln616Lys
NM_001136113.2:c.2008C>A	NP_001129585.1:p.Gln670Lys
NM_001136114.2:c.1657C>A	NP_001129586.1:p.Gln553Lys
NM_001353193.2:c.2074C>A	NP_001340122.2:p.Gln692Lys
NM_001353194.2:c.1846C>A	NP_001340123.1:p.Gln616Lys
NM_001353195.2:c.1657C>A	NP_001340124.1:p.Gln553Lys
NM_001353196.2:c.1918C>A	NP_001340125.1:p.Gln640Lys
NM_001353197.2:c.1912C>A	NP_001340126.2:p.Gln638Lys
NM_001353198.2:c.1912C>A	NP_001340127.2:p.Gln638Lys
NM_001353199.2:c.1723C>A	NP_001340128.2:p.Gln575Lys
NM_001353200.2:c.1552C>A	NP_001340129.1:p.Gln518Lys
NM_001374689.1:c.1996C>A	NP_001361618.1:p.Gln666Lys
NM_001374690.1:c.1789C>A	NP_001361619.1:p.Gln597Lys
NM_001374691.1:c.1657C>A	NP_001361620.1:p.Gln553Lys
NM_001374692.1:c.1657C>A	NP_001361621.1:p.Gln553Lys
NM_001374693.1:c.1657C>A	NP_001361622.1:p.Gln553Lys
NM_001374695.1:c.1618C>A	NP_001361624.1:p.Gln540Lys
NM_007171.4:c.2074C>A	NP_009102.4:p.Gln692Lys
NR_148391.2:n.2042C>A
NR_148392.2:n.2260C>A
NR_148393.2:n.2181C>A
NR_148394.2:n.1935C>A
NR_148395.2:n.2333C>A
NR_148396.2:n.1967C>A
NR_148397.2:n.2092C>A
NR_148398.2:n.2047C>A
NR_148399.2:n.2573C>A
NR_148400.2:n.2172C>A

Linked Data

Genomic Alleles

Transcript Alleles