Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522980C>A , CM000671.2:g.131522980C>A	GRCh38
NC_000009.11:g.134398367C>A , CM000671.1:g.134398367C>A	GRCh37
NC_000009.10:g.133388188C>A	NCBI36
NG_008896.1:g.25079C>A
NG_008896.2:g.25079C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1890C>A	ENSP00000343034.7:p.Tyr630Ter
ENST00000404875.7:n.2592C>A
ENST00000423007.6:c.2109C>A	ENSP00000404119.2:p.Tyr703Ter
ENST00000677295.2:c.*2396C>A	ENSP00000504346.2:n.*2396C>A
ENST00000678264.2:c.*2235C>A	ENSP00000503157.2:n.*2235C>A
ENST00000682070.1:n.2362C>A
ENST00000682639.1:c.49C>A
ENST00000682813.1:n.2449C>A
ENST00000683231.1:c.49C>A
ENST00000683392.1:n.4644C>A
ENST00000683712.1:n.2457C>A
ENST00000683900.1:n.3952C>A
ENST00000684062.1:n.2718C>A
ENST00000684399.1:c.49C>A
ENST00000684579.1:n.3898C>A
ENST00000341012.12:c.1890C>A	ENSP00000343034.7:p.Tyr630Ter
ENST00000372220.5:c.921C>A	ENSP00000361294.5:p.Tyr307Ter
ENST00000372228.9:c.2118C>A	ENSP00000361302.3:p.Tyr706Ter
ENST00000402686.8:c.2052C>A MANE Select	ENSP00000385797.4:p.Tyr684Ter
ENST00000676640.1:c.2052C>A	ENSP00000503281.1:p.Tyr684Ter
ENST00000676803.1:c.1113C>A	ENSP00000503093.1:p.Tyr371Ter
ENST00000676835.1:c.*1267C>A	ENSP00000502911.1:n.*1267C>A
ENST00000677029.1:c.1596C>A	ENSP00000502936.1:p.Tyr532Ter
ENST00000677099.1:c.*1762C>A	ENSP00000504553.1:n.*1762C>A
ENST00000677216.1:c.1701C>A	ENSP00000503772.1:p.Tyr567Ter
ENST00000677221.1:n.1077C>A
ENST00000677295.1:c.*1274C>A	ENSP00000504346.1:n.*1274C>A
ENST00000677444.1:c.1997C>A
ENST00000677586.1:n.1419C>A
ENST00000677626.1:c.1701C>A	ENSP00000503552.1:p.Tyr567Ter
ENST00000677853.1:c.*1060C>A	ENSP00000503488.1:n.*1060C>A
ENST00000678264.1:c.*1429C>A	ENSP00000503157.1:n.*1429C>A
ENST00000678303.1:c.1962C>A	ENSP00000503696.1:p.Tyr654Ter
ENST00000678366.1:c.*2301C>A	ENSP00000504353.1:n.*2301C>A
ENST00000678546.1:c.*1997C>A	ENSP00000503062.1:n.*1997C>A
ENST00000678548.1:c.*2191C>A	ENSP00000503934.1:n.*2191C>A
ENST00000678626.1:n.1888C>A
ENST00000678739.1:c.*2218C>A	ENSP00000503806.1:n.*2218C>A
ENST00000678833.1:c.*1804C>A	ENSP00000503893.1:n.*1804C>A
ENST00000679023.1:c.1890C>A	ENSP00000503718.1:p.Tyr630Ter
ENST00000679076.1:c.1671C>A
ENST00000679111.1:c.*808C>A	ENSP00000504257.1:n.*808C>A
ENST00000679189.1:c.1701C>A	ENSP00000503356.1:p.Tyr567Ter
ENST00000341012.11:c.1890C>A	ENSP00000343034.7:p.Tyr630Ter
ENST00000372220.4:c.915C>A	ENSP00000361294.4:p.Tyr305Ter
ENST00000372228.7:c.2118C>A	ENSP00000361302.3:p.Tyr706Ter
ENST00000402686.7:c.2052C>A	ENSP00000385797.3:p.Tyr684Ter
ENST00000404875.6:c.1701C>A	ENSP00000384531.2:p.Tyr567Ter
ENST00000423007.5:c.2052C>A	ENSP00000404119.1:p.Tyr684Ter
ENST00000485278.5:n.2602C>A
NM_001077365.1:c.2052C>A	NP_001070833.1:p.Tyr684Ter
NM_001077366.1:c.1890C>A	NP_001070834.1:p.Tyr630Ter
NM_001136113.1:c.2052C>A	NP_001129585.1:p.Tyr684Ter
NM_001136114.1:c.1701C>A	NP_001129586.1:p.Tyr567Ter
NM_007171.3:c.2118C>A	NP_009102.3:p.Tyr706Ter
XM_005272156.1:c.2118C>A	XP_005272213.1:p.Tyr706Ter
XM_005272158.1:c.1956C>A	XP_005272215.1:p.Tyr652Ter
XM_005272159.1:c.1767C>A	XP_005272216.1:p.Tyr589Ter
XM_005272162.1:c.921C>A	XP_005272219.1:p.Tyr307Ter
XM_006716932.1:c.1767C>A	XP_006716995.1:p.Tyr589Ter
XM_011518140.1:c.1971C>A	XP_011516442.1:p.Tyr657Ter
XM_011518141.1:c.1905C>A	XP_011516443.1:p.Tyr635Ter
XM_011518142.1:c.1809C>A	XP_011516444.1:p.Tyr603Ter
XM_011518143.1:c.1803C>A	XP_011516445.1:p.Tyr601Ter
XM_011518145.1:c.1662C>A	XP_011516447.1:p.Tyr554Ter
XM_011518147.1:c.990C>A	XP_011516449.1:p.Tyr330Ter
XR_929703.1:n.2294C>A
NM_001353193.1:c.2118C>A	NP_001340122.1:p.Tyr706Ter
NM_001353194.1:c.1890C>A	NP_001340123.1:p.Tyr630Ter
NM_001353195.1:c.1701C>A	NP_001340124.1:p.Tyr567Ter
NM_001353196.1:c.1962C>A	NP_001340125.1:p.Tyr654Ter
NM_001353197.1:c.1956C>A	NP_001340126.1:p.Tyr652Ter
NM_001353198.1:c.1956C>A	NP_001340127.1:p.Tyr652Ter
NM_001353199.1:c.1767C>A	NP_001340128.1:p.Tyr589Ter
NM_001353200.1:c.1596C>A	NP_001340129.1:p.Tyr532Ter
NR_148391.1:n.2102C>A
NR_148392.1:n.2320C>A
NR_148393.1:n.2241C>A
NR_148394.1:n.1995C>A
NR_148395.1:n.2393C>A
NR_148396.1:n.2027C>A
NR_148397.1:n.2152C>A
NR_148398.1:n.2107C>A
NR_148399.1:n.2633C>A
NR_148400.1:n.2232C>A
XM_005272162.3:c.921C>A	XP_005272219.1:p.Tyr307Ter
XM_006716932.2:c.1767C>A	XP_006716995.1:p.Tyr589Ter
XM_011518140.2:c.1971C>A	XP_011516442.1:p.Tyr657Ter
XM_011518141.2:c.1905C>A	XP_011516443.1:p.Tyr635Ter
XM_011518142.2:c.1809C>A	XP_011516444.1:p.Tyr603Ter
XM_011518143.2:c.1803C>A	XP_011516445.1:p.Tyr601Ter
XM_011518145.2:c.1662C>A	XP_011516447.1:p.Tyr554Ter
XM_017014205.2:c.921C>A	XP_016869694.1:p.Tyr307Ter
XM_024447380.1:c.921C>A	XP_024303148.1:p.Tyr307Ter
XM_024447381.1:c.1227C>A	XP_024303149.1:p.Tyr409Ter
XM_024447382.1:c.921C>A	XP_024303150.1:p.Tyr307Ter
XR_001746160.2:n.2222C>A
XR_001746162.2:n.2427C>A
XR_001746164.1:n.2144C>A
XR_001746166.2:n.2439C>A
NM_001077365.2:c.2052C>A MANE Select	NP_001070833.1:p.Tyr684Ter
NM_001077366.2:c.1890C>A	NP_001070834.1:p.Tyr630Ter
NM_001136113.2:c.2052C>A	NP_001129585.1:p.Tyr684Ter
NM_001136114.2:c.1701C>A	NP_001129586.1:p.Tyr567Ter
NM_001353193.2:c.2118C>A	NP_001340122.2:p.Tyr706Ter
NM_001353194.2:c.1890C>A	NP_001340123.1:p.Tyr630Ter
NM_001353195.2:c.1701C>A	NP_001340124.1:p.Tyr567Ter
NM_001353196.2:c.1962C>A	NP_001340125.1:p.Tyr654Ter
NM_001353197.2:c.1956C>A	NP_001340126.2:p.Tyr652Ter
NM_001353198.2:c.1956C>A	NP_001340127.2:p.Tyr652Ter
NM_001353199.2:c.1767C>A	NP_001340128.2:p.Tyr589Ter
NM_001353200.2:c.1596C>A	NP_001340129.1:p.Tyr532Ter
NM_001374689.1:c.2040C>A	NP_001361618.1:p.Tyr680Ter
NM_001374690.1:c.1833C>A	NP_001361619.1:p.Tyr611Ter
NM_001374691.1:c.1701C>A	NP_001361620.1:p.Tyr567Ter
NM_001374692.1:c.1701C>A	NP_001361621.1:p.Tyr567Ter
NM_001374693.1:c.1701C>A	NP_001361622.1:p.Tyr567Ter
NM_001374695.1:c.1662C>A	NP_001361624.1:p.Tyr554Ter
NM_007171.4:c.2118C>A	NP_009102.4:p.Tyr706Ter
NR_148391.2:n.2086C>A
NR_148392.2:n.2304C>A
NR_148393.2:n.2225C>A
NR_148394.2:n.1979C>A
NR_148395.2:n.2377C>A
NR_148396.2:n.2011C>A
NR_148397.2:n.2136C>A
NR_148398.2:n.2091C>A
NR_148399.2:n.2617C>A
NR_148400.2:n.2216C>A

Linked Data

Genomic Alleles

Transcript Alleles