Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522106T>A , CM000671.2:g.131522106T>A	GRCh38
NC_000009.11:g.134397493T>A , CM000671.1:g.134397493T>A	GRCh37
NC_000009.10:g.133387314T>A	NCBI36
NG_008896.1:g.24205T>A
NG_008896.2:g.24205T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1723T>A	ENSP00000343034.7:p.Tyr575Asn
ENST00000404875.7:n.2425T>A
ENST00000423007.6:c.1942T>A	ENSP00000404119.2:p.Tyr648Asn
ENST00000677295.2:c.*2229T>A	ENSP00000504346.2:n.*2229T>A
ENST00000678264.2:c.*2068T>A	ENSP00000503157.2:n.*2068T>A
ENST00000682070.1:n.2291-96T>A
ENST00000682813.1:n.2289T>A
ENST00000683392.1:n.4573-96T>A
ENST00000683712.1:n.2290T>A
ENST00000683900.1:n.3785T>A
ENST00000684062.1:n.2551T>A
ENST00000684579.1:n.3731T>A
ENST00000684679.1:n.1112T>A
ENST00000341012.12:c.1723T>A	ENSP00000343034.7:p.Tyr575Asn
ENST00000372220.5:c.754T>A	ENSP00000361294.5:p.Tyr252Asn
ENST00000372228.9:c.1951T>A	ENSP00000361302.3:p.Tyr651Asn
ENST00000402686.8:c.1885T>A MANE Select	ENSP00000385797.4:p.Tyr629Asn
ENST00000676640.1:c.1885T>A	ENSP00000503281.1:p.Tyr629Asn
ENST00000676803.1:c.946T>A	ENSP00000503093.1:p.Tyr316Asn
ENST00000676835.1:c.*1100T>A	ENSP00000502911.1:n.*1100T>A
ENST00000677029.1:c.1429T>A	ENSP00000502936.1:p.Tyr477Asn
ENST00000677099.1:c.*1595T>A	ENSP00000504553.1:n.*1595T>A
ENST00000677216.1:c.1534T>A	ENSP00000503772.1:p.Tyr512Asn
ENST00000677221.1:n.910T>A
ENST00000677295.1:c.*1203-96T>A	ENSP00000504346.1:n.*1203-96T>A
ENST00000677444.1:c.1830T>A
ENST00000677586.1:n.1252T>A
ENST00000677626.1:c.1534T>A	ENSP00000503552.1:p.Tyr512Asn
ENST00000677853.1:c.*893T>A	ENSP00000503488.1:n.*893T>A
ENST00000678202.1:n.1044T>A
ENST00000678264.1:c.*1262T>A	ENSP00000503157.1:n.*1262T>A
ENST00000678303.1:c.1795T>A	ENSP00000503696.1:p.Tyr599Asn
ENST00000678366.1:c.*2134T>A	ENSP00000504353.1:n.*2134T>A
ENST00000678546.1:c.*1830T>A	ENSP00000503062.1:n.*1830T>A
ENST00000678548.1:c.*2024T>A	ENSP00000503934.1:n.*2024T>A
ENST00000678626.1:n.1721T>A
ENST00000678739.1:c.*2147-96T>A	ENSP00000503806.1:n.*2147-96T>A
ENST00000678833.1:c.*1637T>A	ENSP00000503893.1:n.*1637T>A
ENST00000679023.1:c.1723T>A	ENSP00000503718.1:p.Tyr575Asn
ENST00000679076.1:c.1504T>A
ENST00000679111.1:c.*641T>A	ENSP00000504257.1:n.*641T>A
ENST00000679189.1:c.1534T>A	ENSP00000503356.1:p.Tyr512Asn
ENST00000341012.11:c.1723T>A	ENSP00000343034.7:p.Tyr575Asn
ENST00000372220.4:c.748T>A	ENSP00000361294.4:p.Tyr250Asn
ENST00000372228.7:c.1951T>A	ENSP00000361302.3:p.Tyr651Asn
ENST00000402686.7:c.1885T>A	ENSP00000385797.3:p.Tyr629Asn
ENST00000404875.6:c.1534T>A	ENSP00000384531.2:p.Tyr512Asn
ENST00000423007.5:c.1885T>A	ENSP00000404119.1:p.Tyr629Asn
ENST00000485278.5:n.2435T>A
ENST00000494883.1:n.428T>A
NM_001077365.1:c.1885T>A	NP_001070833.1:p.Tyr629Asn
NM_001077366.1:c.1723T>A	NP_001070834.1:p.Tyr575Asn
NM_001136113.1:c.1885T>A	NP_001129585.1:p.Tyr629Asn
NM_001136114.1:c.1534T>A	NP_001129586.1:p.Tyr512Asn
NM_007171.3:c.1951T>A	NP_009102.3:p.Tyr651Asn
XM_005272156.1:c.1951T>A	XP_005272213.1:p.Tyr651Asn
XM_005272158.1:c.1789T>A	XP_005272215.1:p.Tyr597Asn
XM_005272159.1:c.1600T>A	XP_005272216.1:p.Tyr534Asn
XM_005272162.1:c.754T>A	XP_005272219.1:p.Tyr252Asn
XM_006716932.1:c.1600T>A	XP_006716995.1:p.Tyr534Asn
XM_011518140.1:c.1804T>A	XP_011516442.1:p.Tyr602Asn
XM_011518141.1:c.1738T>A	XP_011516443.1:p.Tyr580Asn
XM_011518142.1:c.1642T>A	XP_011516444.1:p.Tyr548Asn
XM_011518143.1:c.1636T>A	XP_011516445.1:p.Tyr546Asn
XM_011518145.1:c.1495T>A	XP_011516447.1:p.Tyr499Asn
XM_011518147.1:c.823T>A	XP_011516449.1:p.Tyr275Asn
XR_929703.1:n.2127T>A
NM_001353193.1:c.1951T>A	NP_001340122.1:p.Tyr651Asn
NM_001353194.1:c.1723T>A	NP_001340123.1:p.Tyr575Asn
NM_001353195.1:c.1534T>A	NP_001340124.1:p.Tyr512Asn
NM_001353196.1:c.1795T>A	NP_001340125.1:p.Tyr599Asn
NM_001353197.1:c.1789T>A	NP_001340126.1:p.Tyr597Asn
NM_001353198.1:c.1789T>A	NP_001340127.1:p.Tyr597Asn
NM_001353199.1:c.1600T>A	NP_001340128.1:p.Tyr534Asn
NM_001353200.1:c.1429T>A	NP_001340129.1:p.Tyr477Asn
NR_148391.1:n.1935T>A
NR_148392.1:n.2153T>A
NR_148393.1:n.2074T>A
NR_148394.1:n.1828T>A
NR_148395.1:n.2226T>A
NR_148396.1:n.1860T>A
NR_148397.1:n.1985T>A
NR_148398.1:n.1940T>A
NR_148399.1:n.2466T>A
NR_148400.1:n.2065T>A
XM_005272162.3:c.754T>A	XP_005272219.1:p.Tyr252Asn
XM_006716932.2:c.1600T>A	XP_006716995.1:p.Tyr534Asn
XM_011518140.2:c.1804T>A	XP_011516442.1:p.Tyr602Asn
XM_011518141.2:c.1738T>A	XP_011516443.1:p.Tyr580Asn
XM_011518142.2:c.1642T>A	XP_011516444.1:p.Tyr548Asn
XM_011518143.2:c.1636T>A	XP_011516445.1:p.Tyr546Asn
XM_011518145.2:c.1495T>A	XP_011516447.1:p.Tyr499Asn
XM_017014205.2:c.754T>A	XP_016869694.1:p.Tyr252Asn
XM_024447380.1:c.754T>A	XP_024303148.1:p.Tyr252Asn
XM_024447381.1:c.1060T>A	XP_024303149.1:p.Tyr354Asn
XM_024447382.1:c.754T>A	XP_024303150.1:p.Tyr252Asn
XR_001746160.2:n.2055T>A
XR_001746162.2:n.2260T>A
XR_001746164.1:n.1977T>A
XR_001746166.2:n.2272T>A
NM_001077365.2:c.1885T>A MANE Select	NP_001070833.1:p.Tyr629Asn
NM_001077366.2:c.1723T>A	NP_001070834.1:p.Tyr575Asn
NM_001136113.2:c.1885T>A	NP_001129585.1:p.Tyr629Asn
NM_001136114.2:c.1534T>A	NP_001129586.1:p.Tyr512Asn
NM_001353193.2:c.1951T>A	NP_001340122.2:p.Tyr651Asn
NM_001353194.2:c.1723T>A	NP_001340123.1:p.Tyr575Asn
NM_001353195.2:c.1534T>A	NP_001340124.1:p.Tyr512Asn
NM_001353196.2:c.1795T>A	NP_001340125.1:p.Tyr599Asn
NM_001353197.2:c.1789T>A	NP_001340126.2:p.Tyr597Asn
NM_001353198.2:c.1789T>A	NP_001340127.2:p.Tyr597Asn
NM_001353199.2:c.1600T>A	NP_001340128.2:p.Tyr534Asn
NM_001353200.2:c.1429T>A	NP_001340129.1:p.Tyr477Asn
NM_001374689.1:c.1873T>A	NP_001361618.1:p.Tyr625Asn
NM_001374690.1:c.1666T>A	NP_001361619.1:p.Tyr556Asn
NM_001374691.1:c.1534T>A	NP_001361620.1:p.Tyr512Asn
NM_001374692.1:c.1534T>A	NP_001361621.1:p.Tyr512Asn
NM_001374693.1:c.1534T>A	NP_001361622.1:p.Tyr512Asn
NM_001374695.1:c.1495T>A	NP_001361624.1:p.Tyr499Asn
NM_007171.4:c.1951T>A	NP_009102.4:p.Tyr651Asn
NR_148391.2:n.1919T>A
NR_148392.2:n.2137T>A
NR_148393.2:n.2058T>A
NR_148394.2:n.1812T>A
NR_148395.2:n.2210T>A
NR_148396.2:n.1844T>A
NR_148397.2:n.1969T>A
NR_148398.2:n.1924T>A
NR_148399.2:n.2450T>A
NR_148400.2:n.2049T>A

Linked Data

Genomic Alleles

Transcript Alleles