Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522982C>A , CM000671.2:g.131522982C>A	GRCh38
NC_000009.11:g.134398369C>A , CM000671.1:g.134398369C>A	GRCh37
NC_000009.10:g.133388190C>A	NCBI36
NG_008896.1:g.25081C>A
NG_008896.2:g.25081C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1892C>A	ENSP00000343034.7:p.Ser631Tyr
ENST00000404875.7:n.2594C>A
ENST00000423007.6:c.2111C>A	ENSP00000404119.2:p.Ser704Tyr
ENST00000677295.2:c.*2398C>A	ENSP00000504346.2:n.*2398C>A
ENST00000678264.2:c.*2237C>A	ENSP00000503157.2:n.*2237C>A
ENST00000682070.1:n.2364C>A
ENST00000682639.1:c.51C>A
ENST00000682813.1:n.2451C>A
ENST00000683231.1:c.51C>A
ENST00000683392.1:n.4646C>A
ENST00000683712.1:n.2459C>A
ENST00000683900.1:n.3954C>A
ENST00000684062.1:n.2720C>A
ENST00000684399.1:c.51C>A
ENST00000684579.1:n.3900C>A
ENST00000341012.12:c.1892C>A	ENSP00000343034.7:p.Ser631Tyr
ENST00000372220.5:c.923C>A	ENSP00000361294.5:p.Ser308Tyr
ENST00000372228.9:c.2120C>A	ENSP00000361302.3:p.Ser707Tyr
ENST00000402686.8:c.2054C>A MANE Select	ENSP00000385797.4:p.Ser685Tyr
ENST00000676640.1:c.2054C>A	ENSP00000503281.1:p.Ser685Tyr
ENST00000676803.1:c.1115C>A	ENSP00000503093.1:p.Ser372Tyr
ENST00000676835.1:c.*1269C>A	ENSP00000502911.1:n.*1269C>A
ENST00000677029.1:c.1598C>A	ENSP00000502936.1:p.Ser533Tyr
ENST00000677099.1:c.*1764C>A	ENSP00000504553.1:n.*1764C>A
ENST00000677216.1:c.1703C>A	ENSP00000503772.1:p.Ser568Tyr
ENST00000677221.1:n.1079C>A
ENST00000677295.1:c.*1276C>A	ENSP00000504346.1:n.*1276C>A
ENST00000677444.1:c.1999C>A
ENST00000677586.1:n.1421C>A
ENST00000677626.1:c.1703C>A	ENSP00000503552.1:p.Ser568Tyr
ENST00000677853.1:c.*1062C>A	ENSP00000503488.1:n.*1062C>A
ENST00000678264.1:c.*1431C>A	ENSP00000503157.1:n.*1431C>A
ENST00000678303.1:c.1964C>A	ENSP00000503696.1:p.Ser655Tyr
ENST00000678366.1:c.*2303C>A	ENSP00000504353.1:n.*2303C>A
ENST00000678546.1:c.*1999C>A	ENSP00000503062.1:n.*1999C>A
ENST00000678548.1:c.*2193C>A	ENSP00000503934.1:n.*2193C>A
ENST00000678626.1:n.1890C>A
ENST00000678739.1:c.*2220C>A	ENSP00000503806.1:n.*2220C>A
ENST00000678833.1:c.*1806C>A	ENSP00000503893.1:n.*1806C>A
ENST00000679023.1:c.1892C>A	ENSP00000503718.1:p.Ser631Tyr
ENST00000679076.1:c.1673C>A
ENST00000679111.1:c.*810C>A	ENSP00000504257.1:n.*810C>A
ENST00000679189.1:c.1703C>A	ENSP00000503356.1:p.Ser568Tyr
ENST00000341012.11:c.1892C>A	ENSP00000343034.7:p.Ser631Tyr
ENST00000372220.4:c.917C>A	ENSP00000361294.4:p.Ser306Tyr
ENST00000372228.7:c.2120C>A	ENSP00000361302.3:p.Ser707Tyr
ENST00000402686.7:c.2054C>A	ENSP00000385797.3:p.Ser685Tyr
ENST00000404875.6:c.1703C>A	ENSP00000384531.2:p.Ser568Tyr
ENST00000423007.5:c.2054C>A	ENSP00000404119.1:p.Ser685Tyr
ENST00000485278.5:n.2604C>A
NM_001077365.1:c.2054C>A	NP_001070833.1:p.Ser685Tyr
NM_001077366.1:c.1892C>A	NP_001070834.1:p.Ser631Tyr
NM_001136113.1:c.2054C>A	NP_001129585.1:p.Ser685Tyr
NM_001136114.1:c.1703C>A	NP_001129586.1:p.Ser568Tyr
NM_007171.3:c.2120C>A	NP_009102.3:p.Ser707Tyr
XM_005272156.1:c.2120C>A	XP_005272213.1:p.Ser707Tyr
XM_005272158.1:c.1958C>A	XP_005272215.1:p.Ser653Tyr
XM_005272159.1:c.1769C>A	XP_005272216.1:p.Ser590Tyr
XM_005272162.1:c.923C>A	XP_005272219.1:p.Ser308Tyr
XM_006716932.1:c.1769C>A	XP_006716995.1:p.Ser590Tyr
XM_011518140.1:c.1973C>A	XP_011516442.1:p.Ser658Tyr
XM_011518141.1:c.1907C>A	XP_011516443.1:p.Ser636Tyr
XM_011518142.1:c.1811C>A	XP_011516444.1:p.Ser604Tyr
XM_011518143.1:c.1805C>A	XP_011516445.1:p.Ser602Tyr
XM_011518145.1:c.1664C>A	XP_011516447.1:p.Ser555Tyr
XM_011518147.1:c.992C>A	XP_011516449.1:p.Ser331Tyr
XR_929703.1:n.2296C>A
NM_001353193.1:c.2120C>A	NP_001340122.1:p.Ser707Tyr
NM_001353194.1:c.1892C>A	NP_001340123.1:p.Ser631Tyr
NM_001353195.1:c.1703C>A	NP_001340124.1:p.Ser568Tyr
NM_001353196.1:c.1964C>A	NP_001340125.1:p.Ser655Tyr
NM_001353197.1:c.1958C>A	NP_001340126.1:p.Ser653Tyr
NM_001353198.1:c.1958C>A	NP_001340127.1:p.Ser653Tyr
NM_001353199.1:c.1769C>A	NP_001340128.1:p.Ser590Tyr
NM_001353200.1:c.1598C>A	NP_001340129.1:p.Ser533Tyr
NR_148391.1:n.2104C>A
NR_148392.1:n.2322C>A
NR_148393.1:n.2243C>A
NR_148394.1:n.1997C>A
NR_148395.1:n.2395C>A
NR_148396.1:n.2029C>A
NR_148397.1:n.2154C>A
NR_148398.1:n.2109C>A
NR_148399.1:n.2635C>A
NR_148400.1:n.2234C>A
XM_005272162.3:c.923C>A	XP_005272219.1:p.Ser308Tyr
XM_006716932.2:c.1769C>A	XP_006716995.1:p.Ser590Tyr
XM_011518140.2:c.1973C>A	XP_011516442.1:p.Ser658Tyr
XM_011518141.2:c.1907C>A	XP_011516443.1:p.Ser636Tyr
XM_011518142.2:c.1811C>A	XP_011516444.1:p.Ser604Tyr
XM_011518143.2:c.1805C>A	XP_011516445.1:p.Ser602Tyr
XM_011518145.2:c.1664C>A	XP_011516447.1:p.Ser555Tyr
XM_017014205.2:c.923C>A	XP_016869694.1:p.Ser308Tyr
XM_024447380.1:c.923C>A	XP_024303148.1:p.Ser308Tyr
XM_024447381.1:c.1229C>A	XP_024303149.1:p.Ser410Tyr
XM_024447382.1:c.923C>A	XP_024303150.1:p.Ser308Tyr
XR_001746160.2:n.2224C>A
XR_001746162.2:n.2429C>A
XR_001746164.1:n.2146C>A
XR_001746166.2:n.2441C>A
NM_001077365.2:c.2054C>A MANE Select	NP_001070833.1:p.Ser685Tyr
NM_001077366.2:c.1892C>A	NP_001070834.1:p.Ser631Tyr
NM_001136113.2:c.2054C>A	NP_001129585.1:p.Ser685Tyr
NM_001136114.2:c.1703C>A	NP_001129586.1:p.Ser568Tyr
NM_001353193.2:c.2120C>A	NP_001340122.2:p.Ser707Tyr
NM_001353194.2:c.1892C>A	NP_001340123.1:p.Ser631Tyr
NM_001353195.2:c.1703C>A	NP_001340124.1:p.Ser568Tyr
NM_001353196.2:c.1964C>A	NP_001340125.1:p.Ser655Tyr
NM_001353197.2:c.1958C>A	NP_001340126.2:p.Ser653Tyr
NM_001353198.2:c.1958C>A	NP_001340127.2:p.Ser653Tyr
NM_001353199.2:c.1769C>A	NP_001340128.2:p.Ser590Tyr
NM_001353200.2:c.1598C>A	NP_001340129.1:p.Ser533Tyr
NM_001374689.1:c.2042C>A	NP_001361618.1:p.Ser681Tyr
NM_001374690.1:c.1835C>A	NP_001361619.1:p.Ser612Tyr
NM_001374691.1:c.1703C>A	NP_001361620.1:p.Ser568Tyr
NM_001374692.1:c.1703C>A	NP_001361621.1:p.Ser568Tyr
NM_001374693.1:c.1703C>A	NP_001361622.1:p.Ser568Tyr
NM_001374695.1:c.1664C>A	NP_001361624.1:p.Ser555Tyr
NM_007171.4:c.2120C>A	NP_009102.4:p.Ser707Tyr
NR_148391.2:n.2088C>A
NR_148392.2:n.2306C>A
NR_148393.2:n.2227C>A
NR_148394.2:n.1981C>A
NR_148395.2:n.2379C>A
NR_148396.2:n.2013C>A
NR_148397.2:n.2138C>A
NR_148398.2:n.2093C>A
NR_148399.2:n.2619C>A
NR_148400.2:n.2218C>A

Linked Data

Genomic Alleles

Transcript Alleles