Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522105C>A , CM000671.2:g.131522105C>A	GRCh38
NC_000009.11:g.134397492C>A , CM000671.1:g.134397492C>A	GRCh37
NC_000009.10:g.133387313C>A	NCBI36
NG_008896.1:g.24204C>A
NG_008896.2:g.24204C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1722C>A	ENSP00000343034.7:p.Asn574Lys
ENST00000404875.7:n.2424C>A
ENST00000423007.6:c.1941C>A	ENSP00000404119.2:p.Asn647Lys
ENST00000677295.2:c.*2228C>A	ENSP00000504346.2:n.*2228C>A
ENST00000678264.2:c.*2067C>A	ENSP00000503157.2:n.*2067C>A
ENST00000682070.1:n.2291-97C>A
ENST00000682813.1:n.2288C>A
ENST00000683392.1:n.4573-97C>A
ENST00000683712.1:n.2289C>A
ENST00000683900.1:n.3784C>A
ENST00000684062.1:n.2550C>A
ENST00000684579.1:n.3730C>A
ENST00000684679.1:n.1111C>A
ENST00000341012.12:c.1722C>A	ENSP00000343034.7:p.Asn574Lys
ENST00000372220.5:c.753C>A	ENSP00000361294.5:p.Asn251Lys
ENST00000372228.9:c.1950C>A	ENSP00000361302.3:p.Asn650Lys
ENST00000402686.8:c.1884C>A MANE Select	ENSP00000385797.4:p.Asn628Lys
ENST00000676640.1:c.1884C>A	ENSP00000503281.1:p.Asn628Lys
ENST00000676803.1:c.945C>A	ENSP00000503093.1:p.Asn315Lys
ENST00000676835.1:c.*1099C>A	ENSP00000502911.1:n.*1099C>A
ENST00000677029.1:c.1428C>A	ENSP00000502936.1:p.Asn476Lys
ENST00000677099.1:c.*1594C>A	ENSP00000504553.1:n.*1594C>A
ENST00000677216.1:c.1533C>A	ENSP00000503772.1:p.Asn511Lys
ENST00000677221.1:n.909C>A
ENST00000677295.1:c.*1203-97C>A	ENSP00000504346.1:n.*1203-97C>A
ENST00000677444.1:c.1829C>A
ENST00000677586.1:n.1251C>A
ENST00000677626.1:c.1533C>A	ENSP00000503552.1:p.Asn511Lys
ENST00000677853.1:c.*892C>A	ENSP00000503488.1:n.*892C>A
ENST00000678202.1:n.1043C>A
ENST00000678264.1:c.*1261C>A	ENSP00000503157.1:n.*1261C>A
ENST00000678303.1:c.1794C>A	ENSP00000503696.1:p.Asn598Lys
ENST00000678366.1:c.*2133C>A	ENSP00000504353.1:n.*2133C>A
ENST00000678546.1:c.*1829C>A	ENSP00000503062.1:n.*1829C>A
ENST00000678548.1:c.*2023C>A	ENSP00000503934.1:n.*2023C>A
ENST00000678626.1:n.1720C>A
ENST00000678739.1:c.*2147-97C>A	ENSP00000503806.1:n.*2147-97C>A
ENST00000678833.1:c.*1636C>A	ENSP00000503893.1:n.*1636C>A
ENST00000679023.1:c.1722C>A	ENSP00000503718.1:p.Asn574Lys
ENST00000679076.1:c.1503C>A
ENST00000679111.1:c.*640C>A	ENSP00000504257.1:n.*640C>A
ENST00000679189.1:c.1533C>A	ENSP00000503356.1:p.Asn511Lys
ENST00000341012.11:c.1722C>A	ENSP00000343034.7:p.Asn574Lys
ENST00000372220.4:c.747C>A	ENSP00000361294.4:p.Asn249Lys
ENST00000372228.7:c.1950C>A	ENSP00000361302.3:p.Asn650Lys
ENST00000402686.7:c.1884C>A	ENSP00000385797.3:p.Asn628Lys
ENST00000404875.6:c.1533C>A	ENSP00000384531.2:p.Asn511Lys
ENST00000423007.5:c.1884C>A	ENSP00000404119.1:p.Asn628Lys
ENST00000485278.5:n.2434C>A
ENST00000494883.1:n.427C>A
NM_001077365.1:c.1884C>A	NP_001070833.1:p.Asn628Lys
NM_001077366.1:c.1722C>A	NP_001070834.1:p.Asn574Lys
NM_001136113.1:c.1884C>A	NP_001129585.1:p.Asn628Lys
NM_001136114.1:c.1533C>A	NP_001129586.1:p.Asn511Lys
NM_007171.3:c.1950C>A	NP_009102.3:p.Asn650Lys
XM_005272156.1:c.1950C>A	XP_005272213.1:p.Asn650Lys
XM_005272158.1:c.1788C>A	XP_005272215.1:p.Asn596Lys
XM_005272159.1:c.1599C>A	XP_005272216.1:p.Asn533Lys
XM_005272162.1:c.753C>A	XP_005272219.1:p.Asn251Lys
XM_006716932.1:c.1599C>A	XP_006716995.1:p.Asn533Lys
XM_011518140.1:c.1803C>A	XP_011516442.1:p.Asn601Lys
XM_011518141.1:c.1737C>A	XP_011516443.1:p.Asn579Lys
XM_011518142.1:c.1641C>A	XP_011516444.1:p.Asn547Lys
XM_011518143.1:c.1635C>A	XP_011516445.1:p.Asn545Lys
XM_011518145.1:c.1494C>A	XP_011516447.1:p.Asn498Lys
XM_011518147.1:c.822C>A	XP_011516449.1:p.Asn274Lys
XR_929703.1:n.2126C>A
NM_001353193.1:c.1950C>A	NP_001340122.1:p.Asn650Lys
NM_001353194.1:c.1722C>A	NP_001340123.1:p.Asn574Lys
NM_001353195.1:c.1533C>A	NP_001340124.1:p.Asn511Lys
NM_001353196.1:c.1794C>A	NP_001340125.1:p.Asn598Lys
NM_001353197.1:c.1788C>A	NP_001340126.1:p.Asn596Lys
NM_001353198.1:c.1788C>A	NP_001340127.1:p.Asn596Lys
NM_001353199.1:c.1599C>A	NP_001340128.1:p.Asn533Lys
NM_001353200.1:c.1428C>A	NP_001340129.1:p.Asn476Lys
NR_148391.1:n.1934C>A
NR_148392.1:n.2152C>A
NR_148393.1:n.2073C>A
NR_148394.1:n.1827C>A
NR_148395.1:n.2225C>A
NR_148396.1:n.1859C>A
NR_148397.1:n.1984C>A
NR_148398.1:n.1939C>A
NR_148399.1:n.2465C>A
NR_148400.1:n.2064C>A
XM_005272162.3:c.753C>A	XP_005272219.1:p.Asn251Lys
XM_006716932.2:c.1599C>A	XP_006716995.1:p.Asn533Lys
XM_011518140.2:c.1803C>A	XP_011516442.1:p.Asn601Lys
XM_011518141.2:c.1737C>A	XP_011516443.1:p.Asn579Lys
XM_011518142.2:c.1641C>A	XP_011516444.1:p.Asn547Lys
XM_011518143.2:c.1635C>A	XP_011516445.1:p.Asn545Lys
XM_011518145.2:c.1494C>A	XP_011516447.1:p.Asn498Lys
XM_017014205.2:c.753C>A	XP_016869694.1:p.Asn251Lys
XM_024447380.1:c.753C>A	XP_024303148.1:p.Asn251Lys
XM_024447381.1:c.1059C>A	XP_024303149.1:p.Asn353Lys
XM_024447382.1:c.753C>A	XP_024303150.1:p.Asn251Lys
XR_001746160.2:n.2054C>A
XR_001746162.2:n.2259C>A
XR_001746164.1:n.1976C>A
XR_001746166.2:n.2271C>A
NM_001077365.2:c.1884C>A MANE Select	NP_001070833.1:p.Asn628Lys
NM_001077366.2:c.1722C>A	NP_001070834.1:p.Asn574Lys
NM_001136113.2:c.1884C>A	NP_001129585.1:p.Asn628Lys
NM_001136114.2:c.1533C>A	NP_001129586.1:p.Asn511Lys
NM_001353193.2:c.1950C>A	NP_001340122.2:p.Asn650Lys
NM_001353194.2:c.1722C>A	NP_001340123.1:p.Asn574Lys
NM_001353195.2:c.1533C>A	NP_001340124.1:p.Asn511Lys
NM_001353196.2:c.1794C>A	NP_001340125.1:p.Asn598Lys
NM_001353197.2:c.1788C>A	NP_001340126.2:p.Asn596Lys
NM_001353198.2:c.1788C>A	NP_001340127.2:p.Asn596Lys
NM_001353199.2:c.1599C>A	NP_001340128.2:p.Asn533Lys
NM_001353200.2:c.1428C>A	NP_001340129.1:p.Asn476Lys
NM_001374689.1:c.1872C>A	NP_001361618.1:p.Asn624Lys
NM_001374690.1:c.1665C>A	NP_001361619.1:p.Asn555Lys
NM_001374691.1:c.1533C>A	NP_001361620.1:p.Asn511Lys
NM_001374692.1:c.1533C>A	NP_001361621.1:p.Asn511Lys
NM_001374693.1:c.1533C>A	NP_001361622.1:p.Asn511Lys
NM_001374695.1:c.1494C>A	NP_001361624.1:p.Asn498Lys
NM_007171.4:c.1950C>A	NP_009102.4:p.Asn650Lys
NR_148391.2:n.1918C>A
NR_148392.2:n.2136C>A
NR_148393.2:n.2057C>A
NR_148394.2:n.1811C>A
NR_148395.2:n.2209C>A
NR_148396.2:n.1843C>A
NR_148397.2:n.1968C>A
NR_148398.2:n.1923C>A
NR_148399.2:n.2449C>A
NR_148400.2:n.2048C>A

Linked Data

Genomic Alleles

Transcript Alleles