Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521443G>A , CM000671.2:g.131521443G>A	GRCh38
NC_000009.11:g.134396830G>A , CM000671.1:g.134396830G>A	GRCh37
NC_000009.10:g.133386651G>A	NCBI36
NG_008896.1:g.23542G>A
NG_008896.2:g.23542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1634G>A	ENSP00000343034.7:p.Arg545Gln
ENST00000404875.7:n.2336G>A
ENST00000423007.6:c.1853G>A	ENSP00000404119.2:p.Arg618Gln
ENST00000677295.2:c.*2140G>A	ENSP00000504346.2:n.*2140G>A
ENST00000678264.2:c.*1979G>A	ENSP00000503157.2:n.*1979G>A
ENST00000682070.1:n.2261G>A
ENST00000682813.1:n.2200G>A
ENST00000683392.1:n.4543G>A
ENST00000683712.1:n.2201G>A
ENST00000683900.1:n.3696G>A
ENST00000684062.1:n.2462G>A
ENST00000684579.1:n.3642G>A
ENST00000684679.1:n.1023G>A
ENST00000341012.12:c.1634G>A	ENSP00000343034.7:p.Arg545Gln
ENST00000372220.5:c.665G>A	ENSP00000361294.5:p.Arg222Gln
ENST00000372228.9:c.1862G>A	ENSP00000361302.3:p.Arg621Gln
ENST00000402686.8:c.1796G>A MANE Select	ENSP00000385797.4:p.Arg599Gln
ENST00000676640.1:c.1796G>A	ENSP00000503281.1:p.Arg599Gln
ENST00000676803.1:c.857G>A	ENSP00000503093.1:p.Arg286Gln
ENST00000676835.1:c.*1011G>A	ENSP00000502911.1:n.*1011G>A
ENST00000677029.1:c.1340G>A	ENSP00000502936.1:p.Arg447Gln
ENST00000677099.1:c.*1506G>A	ENSP00000504553.1:n.*1506G>A
ENST00000677216.1:c.1445G>A	ENSP00000503772.1:p.Arg482Gln
ENST00000677221.1:n.821G>A
ENST00000677295.1:c.*1173G>A	ENSP00000504346.1:n.*1173G>A
ENST00000677444.1:c.1741G>A
ENST00000677586.1:n.1163G>A
ENST00000677626.1:c.1445G>A	ENSP00000503552.1:p.Arg482Gln
ENST00000677853.1:c.*804G>A	ENSP00000503488.1:n.*804G>A
ENST00000678202.1:n.955G>A
ENST00000678264.1:c.*1173G>A	ENSP00000503157.1:n.*1173G>A
ENST00000678303.1:c.1706G>A	ENSP00000503696.1:p.Arg569Gln
ENST00000678366.1:c.*2045G>A	ENSP00000504353.1:n.*2045G>A
ENST00000678546.1:c.*1741G>A	ENSP00000503062.1:n.*1741G>A
ENST00000678548.1:c.*1868G>A	ENSP00000503934.1:n.*1868G>A
ENST00000678626.1:n.1632G>A
ENST00000678739.1:c.*2117G>A	ENSP00000503806.1:n.*2117G>A
ENST00000678833.1:c.*1548G>A	ENSP00000503893.1:n.*1548G>A
ENST00000679023.1:c.1634G>A	ENSP00000503718.1:p.Arg545Gln
ENST00000679076.1:c.1415G>A
ENST00000679111.1:c.*552G>A	ENSP00000504257.1:n.*552G>A
ENST00000679189.1:c.1445G>A	ENSP00000503356.1:p.Arg482Gln
ENST00000341012.11:c.1634G>A	ENSP00000343034.7:p.Arg545Gln
ENST00000372220.4:c.659G>A	ENSP00000361294.4:p.Arg220Gln
ENST00000372228.7:c.1862G>A	ENSP00000361302.3:p.Arg621Gln
ENST00000402686.7:c.1796G>A	ENSP00000385797.3:p.Arg599Gln
ENST00000404875.6:c.1445G>A	ENSP00000384531.2:p.Arg482Gln
ENST00000423007.5:c.1796G>A	ENSP00000404119.1:p.Arg599Gln
ENST00000485278.5:n.2346G>A
ENST00000494883.1:n.339G>A
NM_001077365.1:c.1796G>A	NP_001070833.1:p.Arg599Gln
NM_001077366.1:c.1634G>A	NP_001070834.1:p.Arg545Gln
NM_001136113.1:c.1796G>A	NP_001129585.1:p.Arg599Gln
NM_001136114.1:c.1445G>A	NP_001129586.1:p.Arg482Gln
NM_007171.3:c.1862G>A	NP_009102.3:p.Arg621Gln
XM_005272156.1:c.1862G>A	XP_005272213.1:p.Arg621Gln
XM_005272158.1:c.1700G>A	XP_005272215.1:p.Arg567Gln
XM_005272159.1:c.1511G>A	XP_005272216.1:p.Arg504Gln
XM_005272162.1:c.665G>A	XP_005272219.1:p.Arg222Gln
XM_006716932.1:c.1511G>A	XP_006716995.1:p.Arg504Gln
XM_011518140.1:c.1715G>A	XP_011516442.1:p.Arg572Gln
XM_011518141.1:c.1649G>A	XP_011516443.1:p.Arg550Gln
XM_011518142.1:c.1553G>A	XP_011516444.1:p.Arg518Gln
XM_011518143.1:c.1547G>A	XP_011516445.1:p.Arg516Gln
XM_011518145.1:c.1406G>A	XP_011516447.1:p.Arg469Gln
XM_011518147.1:c.734G>A	XP_011516449.1:p.Arg245Gln
XR_929703.1:n.2038G>A
NM_001353193.1:c.1862G>A	NP_001340122.1:p.Arg621Gln
NM_001353194.1:c.1634G>A	NP_001340123.1:p.Arg545Gln
NM_001353195.1:c.1445G>A	NP_001340124.1:p.Arg482Gln
NM_001353196.1:c.1706G>A	NP_001340125.1:p.Arg569Gln
NM_001353197.1:c.1700G>A	NP_001340126.1:p.Arg567Gln
NM_001353198.1:c.1700G>A	NP_001340127.1:p.Arg567Gln
NM_001353199.1:c.1511G>A	NP_001340128.1:p.Arg504Gln
NM_001353200.1:c.1340G>A	NP_001340129.1:p.Arg447Gln
NR_148391.1:n.1846G>A
NR_148392.1:n.2064G>A
NR_148393.1:n.1985G>A
NR_148394.1:n.1739G>A
NR_148395.1:n.2137G>A
NR_148396.1:n.1771G>A
NR_148397.1:n.1896G>A
NR_148398.1:n.1851G>A
NR_148399.1:n.2377G>A
NR_148400.1:n.1976G>A
XM_005272162.3:c.665G>A	XP_005272219.1:p.Arg222Gln
XM_006716932.2:c.1511G>A	XP_006716995.1:p.Arg504Gln
XM_011518140.2:c.1715G>A	XP_011516442.1:p.Arg572Gln
XM_011518141.2:c.1649G>A	XP_011516443.1:p.Arg550Gln
XM_011518142.2:c.1553G>A	XP_011516444.1:p.Arg518Gln
XM_011518143.2:c.1547G>A	XP_011516445.1:p.Arg516Gln
XM_011518145.2:c.1406G>A	XP_011516447.1:p.Arg469Gln
XM_017014205.2:c.665G>A	XP_016869694.1:p.Arg222Gln
XM_024447380.1:c.665G>A	XP_024303148.1:p.Arg222Gln
XM_024447381.1:c.971G>A	XP_024303149.1:p.Arg324Gln
XM_024447382.1:c.665G>A	XP_024303150.1:p.Arg222Gln
XR_001746160.2:n.1966G>A
XR_001746162.2:n.2171G>A
XR_001746164.1:n.1888G>A
XR_001746166.2:n.2183G>A
NM_001077365.2:c.1796G>A MANE Select	NP_001070833.1:p.Arg599Gln
NM_001077366.2:c.1634G>A	NP_001070834.1:p.Arg545Gln
NM_001136113.2:c.1796G>A	NP_001129585.1:p.Arg599Gln
NM_001136114.2:c.1445G>A	NP_001129586.1:p.Arg482Gln
NM_001353193.2:c.1862G>A	NP_001340122.2:p.Arg621Gln
NM_001353194.2:c.1634G>A	NP_001340123.1:p.Arg545Gln
NM_001353195.2:c.1445G>A	NP_001340124.1:p.Arg482Gln
NM_001353196.2:c.1706G>A	NP_001340125.1:p.Arg569Gln
NM_001353197.2:c.1700G>A	NP_001340126.2:p.Arg567Gln
NM_001353198.2:c.1700G>A	NP_001340127.2:p.Arg567Gln
NM_001353199.2:c.1511G>A	NP_001340128.2:p.Arg504Gln
NM_001353200.2:c.1340G>A	NP_001340129.1:p.Arg447Gln
NM_001374689.1:c.1784G>A	NP_001361618.1:p.Arg595Gln
NM_001374690.1:c.1577G>A	NP_001361619.1:p.Arg526Gln
NM_001374691.1:c.1445G>A	NP_001361620.1:p.Arg482Gln
NM_001374692.1:c.1445G>A	NP_001361621.1:p.Arg482Gln
NM_001374693.1:c.1445G>A	NP_001361622.1:p.Arg482Gln
NM_001374695.1:c.1406G>A	NP_001361624.1:p.Arg469Gln
NM_007171.4:c.1862G>A	NP_009102.4:p.Arg621Gln
NR_148391.2:n.1830G>A
NR_148392.2:n.2048G>A
NR_148393.2:n.1969G>A
NR_148394.2:n.1723G>A
NR_148395.2:n.2121G>A
NR_148396.2:n.1755G>A
NR_148397.2:n.1880G>A
NR_148398.2:n.1835G>A
NR_148399.2:n.2361G>A
NR_148400.2:n.1960G>A

Linked Data

Genomic Alleles

Transcript Alleles