Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521346G>A , CM000671.2:g.131521346G>A	GRCh38
NC_000009.11:g.134396733G>A , CM000671.1:g.134396733G>A	GRCh37
NC_000009.10:g.133386554G>A	NCBI36
NG_008896.1:g.23445G>A
NG_008896.2:g.23445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1537G>A	ENSP00000343034.7:p.Ala513Thr
ENST00000404875.7:n.2239G>A
ENST00000423007.6:c.1756G>A	ENSP00000404119.2:p.Ala586Thr
ENST00000677295.2:c.*2043G>A	ENSP00000504346.2:n.*2043G>A
ENST00000678264.2:c.*1882G>A	ENSP00000503157.2:n.*1882G>A
ENST00000682070.1:n.2164G>A
ENST00000682813.1:n.2103G>A
ENST00000683392.1:n.4446G>A
ENST00000683712.1:n.2104G>A
ENST00000683900.1:n.3599G>A
ENST00000684062.1:n.2365G>A
ENST00000684579.1:n.3545G>A
ENST00000684679.1:n.926G>A
ENST00000341012.12:c.1537G>A	ENSP00000343034.7:p.Ala513Thr
ENST00000372220.5:c.568G>A	ENSP00000361294.5:p.Ala190Thr
ENST00000372228.9:c.1765G>A	ENSP00000361302.3:p.Ala589Thr
ENST00000402686.8:c.1699G>A MANE Select	ENSP00000385797.4:p.Ala567Thr
ENST00000676640.1:c.1699G>A	ENSP00000503281.1:p.Ala567Thr
ENST00000676803.1:c.760G>A	ENSP00000503093.1:p.Ala254Thr
ENST00000676835.1:c.*914G>A	ENSP00000502911.1:n.*914G>A
ENST00000677029.1:c.1243G>A	ENSP00000502936.1:p.Ala415Thr
ENST00000677099.1:c.*1409G>A	ENSP00000504553.1:n.*1409G>A
ENST00000677216.1:c.1348G>A	ENSP00000503772.1:p.Ala450Thr
ENST00000677221.1:n.724G>A
ENST00000677295.1:c.*1076G>A	ENSP00000504346.1:n.*1076G>A
ENST00000677444.1:c.1644G>A
ENST00000677586.1:n.1066G>A
ENST00000677626.1:c.1348G>A	ENSP00000503552.1:p.Ala450Thr
ENST00000677853.1:c.*707G>A	ENSP00000503488.1:n.*707G>A
ENST00000678202.1:n.858G>A
ENST00000678264.1:c.*1076G>A	ENSP00000503157.1:n.*1076G>A
ENST00000678303.1:c.1609G>A	ENSP00000503696.1:p.Ala537Thr
ENST00000678366.1:c.*1948G>A	ENSP00000504353.1:n.*1948G>A
ENST00000678546.1:c.*1644G>A	ENSP00000503062.1:n.*1644G>A
ENST00000678548.1:c.*1771G>A	ENSP00000503934.1:n.*1771G>A
ENST00000678626.1:n.1535G>A
ENST00000678739.1:c.*2020G>A	ENSP00000503806.1:n.*2020G>A
ENST00000678833.1:c.*1451G>A	ENSP00000503893.1:n.*1451G>A
ENST00000679023.1:c.1537G>A	ENSP00000503718.1:p.Ala513Thr
ENST00000679076.1:c.1318G>A
ENST00000679111.1:c.*455G>A	ENSP00000504257.1:n.*455G>A
ENST00000679189.1:c.1348G>A	ENSP00000503356.1:p.Ala450Thr
ENST00000341012.11:c.1537G>A	ENSP00000343034.7:p.Ala513Thr
ENST00000372220.4:c.562G>A	ENSP00000361294.4:p.Ala188Thr
ENST00000372228.7:c.1765G>A	ENSP00000361302.3:p.Ala589Thr
ENST00000402686.7:c.1699G>A	ENSP00000385797.3:p.Ala567Thr
ENST00000404875.6:c.1348G>A	ENSP00000384531.2:p.Ala450Thr
ENST00000423007.5:c.1699G>A	ENSP00000404119.1:p.Ala567Thr
ENST00000467848.1:n.403G>A
ENST00000485278.5:n.2249G>A
ENST00000494883.1:n.242G>A
NM_001077365.1:c.1699G>A	NP_001070833.1:p.Ala567Thr
NM_001077366.1:c.1537G>A	NP_001070834.1:p.Ala513Thr
NM_001136113.1:c.1699G>A	NP_001129585.1:p.Ala567Thr
NM_001136114.1:c.1348G>A	NP_001129586.1:p.Ala450Thr
NM_007171.3:c.1765G>A	NP_009102.3:p.Ala589Thr
XM_005272156.1:c.1765G>A	XP_005272213.1:p.Ala589Thr
XM_005272158.1:c.1603G>A	XP_005272215.1:p.Ala535Thr
XM_005272159.1:c.1414G>A	XP_005272216.1:p.Ala472Thr
XM_005272162.1:c.568G>A	XP_005272219.1:p.Ala190Thr
XM_006716932.1:c.1414G>A	XP_006716995.1:p.Ala472Thr
XM_011518140.1:c.1618G>A	XP_011516442.1:p.Ala540Thr
XM_011518141.1:c.1552G>A	XP_011516443.1:p.Ala518Thr
XM_011518142.1:c.1456G>A	XP_011516444.1:p.Ala486Thr
XM_011518143.1:c.1450G>A	XP_011516445.1:p.Ala484Thr
XM_011518145.1:c.1309G>A	XP_011516447.1:p.Ala437Thr
XM_011518147.1:c.637G>A	XP_011516449.1:p.Ala213Thr
XR_929703.1:n.1941G>A
NM_001353193.1:c.1765G>A	NP_001340122.1:p.Ala589Thr
NM_001353194.1:c.1537G>A	NP_001340123.1:p.Ala513Thr
NM_001353195.1:c.1348G>A	NP_001340124.1:p.Ala450Thr
NM_001353196.1:c.1609G>A	NP_001340125.1:p.Ala537Thr
NM_001353197.1:c.1603G>A	NP_001340126.1:p.Ala535Thr
NM_001353198.1:c.1603G>A	NP_001340127.1:p.Ala535Thr
NM_001353199.1:c.1414G>A	NP_001340128.1:p.Ala472Thr
NM_001353200.1:c.1243G>A	NP_001340129.1:p.Ala415Thr
NR_148391.1:n.1749G>A
NR_148392.1:n.1967G>A
NR_148393.1:n.1888G>A
NR_148394.1:n.1642G>A
NR_148395.1:n.2040G>A
NR_148396.1:n.1674G>A
NR_148397.1:n.1799G>A
NR_148398.1:n.1754G>A
NR_148399.1:n.2280G>A
NR_148400.1:n.1879G>A
XM_005272162.3:c.568G>A	XP_005272219.1:p.Ala190Thr
XM_006716932.2:c.1414G>A	XP_006716995.1:p.Ala472Thr
XM_011518140.2:c.1618G>A	XP_011516442.1:p.Ala540Thr
XM_011518141.2:c.1552G>A	XP_011516443.1:p.Ala518Thr
XM_011518142.2:c.1456G>A	XP_011516444.1:p.Ala486Thr
XM_011518143.2:c.1450G>A	XP_011516445.1:p.Ala484Thr
XM_011518145.2:c.1309G>A	XP_011516447.1:p.Ala437Thr
XM_017014205.2:c.568G>A	XP_016869694.1:p.Ala190Thr
XM_024447380.1:c.568G>A	XP_024303148.1:p.Ala190Thr
XM_024447381.1:c.874G>A	XP_024303149.1:p.Ala292Thr
XM_024447382.1:c.568G>A	XP_024303150.1:p.Ala190Thr
XR_001746160.2:n.1869G>A
XR_001746162.2:n.2074G>A
XR_001746164.1:n.1791G>A
XR_001746166.2:n.2086G>A
NM_001077365.2:c.1699G>A MANE Select	NP_001070833.1:p.Ala567Thr
NM_001077366.2:c.1537G>A	NP_001070834.1:p.Ala513Thr
NM_001136113.2:c.1699G>A	NP_001129585.1:p.Ala567Thr
NM_001136114.2:c.1348G>A	NP_001129586.1:p.Ala450Thr
NM_001353193.2:c.1765G>A	NP_001340122.2:p.Ala589Thr
NM_001353194.2:c.1537G>A	NP_001340123.1:p.Ala513Thr
NM_001353195.2:c.1348G>A	NP_001340124.1:p.Ala450Thr
NM_001353196.2:c.1609G>A	NP_001340125.1:p.Ala537Thr
NM_001353197.2:c.1603G>A	NP_001340126.2:p.Ala535Thr
NM_001353198.2:c.1603G>A	NP_001340127.2:p.Ala535Thr
NM_001353199.2:c.1414G>A	NP_001340128.2:p.Ala472Thr
NM_001353200.2:c.1243G>A	NP_001340129.1:p.Ala415Thr
NM_001374689.1:c.1687G>A	NP_001361618.1:p.Ala563Thr
NM_001374690.1:c.1480G>A	NP_001361619.1:p.Ala494Thr
NM_001374691.1:c.1348G>A	NP_001361620.1:p.Ala450Thr
NM_001374692.1:c.1348G>A	NP_001361621.1:p.Ala450Thr
NM_001374693.1:c.1348G>A	NP_001361622.1:p.Ala450Thr
NM_001374695.1:c.1309G>A	NP_001361624.1:p.Ala437Thr
NM_007171.4:c.1765G>A	NP_009102.4:p.Ala589Thr
NR_148391.2:n.1733G>A
NR_148392.2:n.1951G>A
NR_148393.2:n.1872G>A
NR_148394.2:n.1626G>A
NR_148395.2:n.2024G>A
NR_148396.2:n.1658G>A
NR_148397.2:n.1783G>A
NR_148398.2:n.1738G>A
NR_148399.2:n.2264G>A
NR_148400.2:n.1863G>A

Linked Data

Genomic Alleles

Transcript Alleles