Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522085G>A , CM000671.2:g.131522085G>A	GRCh38
NC_000009.11:g.134397472G>A , CM000671.1:g.134397472G>A	GRCh37
NC_000009.10:g.133387293G>A	NCBI36
NG_008896.1:g.24184G>A
NG_008896.2:g.24184G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1702G>A	ENSP00000343034.7:p.Ala568Thr
ENST00000404875.7:n.2404G>A
ENST00000423007.6:c.1921G>A	ENSP00000404119.2:p.Ala641Thr
ENST00000677295.2:c.*2208G>A	ENSP00000504346.2:n.*2208G>A
ENST00000678264.2:c.*2047G>A	ENSP00000503157.2:n.*2047G>A
ENST00000682070.1:n.2291-117G>A
ENST00000682813.1:n.2268G>A
ENST00000683392.1:n.4573-117G>A
ENST00000683712.1:n.2269G>A
ENST00000683900.1:n.3764G>A
ENST00000684062.1:n.2530G>A
ENST00000684579.1:n.3710G>A
ENST00000684679.1:n.1091G>A
ENST00000341012.12:c.1702G>A	ENSP00000343034.7:p.Ala568Thr
ENST00000372220.5:c.733G>A	ENSP00000361294.5:p.Ala245Thr
ENST00000372228.9:c.1930G>A	ENSP00000361302.3:p.Ala644Thr
ENST00000402686.8:c.1864G>A MANE Select	ENSP00000385797.4:p.Ala622Thr
ENST00000676640.1:c.1864G>A	ENSP00000503281.1:p.Ala622Thr
ENST00000676803.1:c.925G>A	ENSP00000503093.1:p.Ala309Thr
ENST00000676835.1:c.*1079G>A	ENSP00000502911.1:n.*1079G>A
ENST00000677029.1:c.1408G>A	ENSP00000502936.1:p.Ala470Thr
ENST00000677099.1:c.*1574G>A	ENSP00000504553.1:n.*1574G>A
ENST00000677216.1:c.1513G>A	ENSP00000503772.1:p.Ala505Thr
ENST00000677221.1:n.889G>A
ENST00000677295.1:c.*1203-117G>A	ENSP00000504346.1:n.*1203-117G>A
ENST00000677444.1:c.1809G>A
ENST00000677586.1:n.1231G>A
ENST00000677626.1:c.1513G>A	ENSP00000503552.1:p.Ala505Thr
ENST00000677853.1:c.*872G>A	ENSP00000503488.1:n.*872G>A
ENST00000678202.1:n.1023G>A
ENST00000678264.1:c.*1241G>A	ENSP00000503157.1:n.*1241G>A
ENST00000678303.1:c.1774G>A	ENSP00000503696.1:p.Ala592Thr
ENST00000678366.1:c.*2113G>A	ENSP00000504353.1:n.*2113G>A
ENST00000678546.1:c.*1809G>A	ENSP00000503062.1:n.*1809G>A
ENST00000678548.1:c.*2003G>A	ENSP00000503934.1:n.*2003G>A
ENST00000678626.1:n.1700G>A
ENST00000678739.1:c.*2147-117G>A	ENSP00000503806.1:n.*2147-117G>A
ENST00000678833.1:c.*1616G>A	ENSP00000503893.1:n.*1616G>A
ENST00000679023.1:c.1702G>A	ENSP00000503718.1:p.Ala568Thr
ENST00000679076.1:c.1483G>A
ENST00000679111.1:c.*620G>A	ENSP00000504257.1:n.*620G>A
ENST00000679189.1:c.1513G>A	ENSP00000503356.1:p.Ala505Thr
ENST00000341012.11:c.1702G>A	ENSP00000343034.7:p.Ala568Thr
ENST00000372220.4:c.727G>A	ENSP00000361294.4:p.Ala243Thr
ENST00000372228.7:c.1930G>A	ENSP00000361302.3:p.Ala644Thr
ENST00000402686.7:c.1864G>A	ENSP00000385797.3:p.Ala622Thr
ENST00000404875.6:c.1513G>A	ENSP00000384531.2:p.Ala505Thr
ENST00000423007.5:c.1864G>A	ENSP00000404119.1:p.Ala622Thr
ENST00000485278.5:n.2414G>A
ENST00000494883.1:n.407G>A
NM_001077365.1:c.1864G>A	NP_001070833.1:p.Ala622Thr
NM_001077366.1:c.1702G>A	NP_001070834.1:p.Ala568Thr
NM_001136113.1:c.1864G>A	NP_001129585.1:p.Ala622Thr
NM_001136114.1:c.1513G>A	NP_001129586.1:p.Ala505Thr
NM_007171.3:c.1930G>A	NP_009102.3:p.Ala644Thr
XM_005272156.1:c.1930G>A	XP_005272213.1:p.Ala644Thr
XM_005272158.1:c.1768G>A	XP_005272215.1:p.Ala590Thr
XM_005272159.1:c.1579G>A	XP_005272216.1:p.Ala527Thr
XM_005272162.1:c.733G>A	XP_005272219.1:p.Ala245Thr
XM_006716932.1:c.1579G>A	XP_006716995.1:p.Ala527Thr
XM_011518140.1:c.1783G>A	XP_011516442.1:p.Ala595Thr
XM_011518141.1:c.1717G>A	XP_011516443.1:p.Ala573Thr
XM_011518142.1:c.1621G>A	XP_011516444.1:p.Ala541Thr
XM_011518143.1:c.1615G>A	XP_011516445.1:p.Ala539Thr
XM_011518145.1:c.1474G>A	XP_011516447.1:p.Ala492Thr
XM_011518147.1:c.802G>A	XP_011516449.1:p.Ala268Thr
XR_929703.1:n.2106G>A
NM_001353193.1:c.1930G>A	NP_001340122.1:p.Ala644Thr
NM_001353194.1:c.1702G>A	NP_001340123.1:p.Ala568Thr
NM_001353195.1:c.1513G>A	NP_001340124.1:p.Ala505Thr
NM_001353196.1:c.1774G>A	NP_001340125.1:p.Ala592Thr
NM_001353197.1:c.1768G>A	NP_001340126.1:p.Ala590Thr
NM_001353198.1:c.1768G>A	NP_001340127.1:p.Ala590Thr
NM_001353199.1:c.1579G>A	NP_001340128.1:p.Ala527Thr
NM_001353200.1:c.1408G>A	NP_001340129.1:p.Ala470Thr
NR_148391.1:n.1914G>A
NR_148392.1:n.2132G>A
NR_148393.1:n.2053G>A
NR_148394.1:n.1807G>A
NR_148395.1:n.2205G>A
NR_148396.1:n.1839G>A
NR_148397.1:n.1964G>A
NR_148398.1:n.1919G>A
NR_148399.1:n.2445G>A
NR_148400.1:n.2044G>A
XM_005272162.3:c.733G>A	XP_005272219.1:p.Ala245Thr
XM_006716932.2:c.1579G>A	XP_006716995.1:p.Ala527Thr
XM_011518140.2:c.1783G>A	XP_011516442.1:p.Ala595Thr
XM_011518141.2:c.1717G>A	XP_011516443.1:p.Ala573Thr
XM_011518142.2:c.1621G>A	XP_011516444.1:p.Ala541Thr
XM_011518143.2:c.1615G>A	XP_011516445.1:p.Ala539Thr
XM_011518145.2:c.1474G>A	XP_011516447.1:p.Ala492Thr
XM_017014205.2:c.733G>A	XP_016869694.1:p.Ala245Thr
XM_024447380.1:c.733G>A	XP_024303148.1:p.Ala245Thr
XM_024447381.1:c.1039G>A	XP_024303149.1:p.Ala347Thr
XM_024447382.1:c.733G>A	XP_024303150.1:p.Ala245Thr
XR_001746160.2:n.2034G>A
XR_001746162.2:n.2239G>A
XR_001746164.1:n.1956G>A
XR_001746166.2:n.2251G>A
NM_001077365.2:c.1864G>A MANE Select	NP_001070833.1:p.Ala622Thr
NM_001077366.2:c.1702G>A	NP_001070834.1:p.Ala568Thr
NM_001136113.2:c.1864G>A	NP_001129585.1:p.Ala622Thr
NM_001136114.2:c.1513G>A	NP_001129586.1:p.Ala505Thr
NM_001353193.2:c.1930G>A	NP_001340122.2:p.Ala644Thr
NM_001353194.2:c.1702G>A	NP_001340123.1:p.Ala568Thr
NM_001353195.2:c.1513G>A	NP_001340124.1:p.Ala505Thr
NM_001353196.2:c.1774G>A	NP_001340125.1:p.Ala592Thr
NM_001353197.2:c.1768G>A	NP_001340126.2:p.Ala590Thr
NM_001353198.2:c.1768G>A	NP_001340127.2:p.Ala590Thr
NM_001353199.2:c.1579G>A	NP_001340128.2:p.Ala527Thr
NM_001353200.2:c.1408G>A	NP_001340129.1:p.Ala470Thr
NM_001374689.1:c.1852G>A	NP_001361618.1:p.Ala618Thr
NM_001374690.1:c.1645G>A	NP_001361619.1:p.Ala549Thr
NM_001374691.1:c.1513G>A	NP_001361620.1:p.Ala505Thr
NM_001374692.1:c.1513G>A	NP_001361621.1:p.Ala505Thr
NM_001374693.1:c.1513G>A	NP_001361622.1:p.Ala505Thr
NM_001374695.1:c.1474G>A	NP_001361624.1:p.Ala492Thr
NM_007171.4:c.1930G>A	NP_009102.4:p.Ala644Thr
NR_148391.2:n.1898G>A
NR_148392.2:n.2116G>A
NR_148393.2:n.2037G>A
NR_148394.2:n.1791G>A
NR_148395.2:n.2189G>A
NR_148396.2:n.1823G>A
NR_148397.2:n.1948G>A
NR_148398.2:n.1903G>A
NR_148399.2:n.2429G>A
NR_148400.2:n.2028G>A

Linked Data

Genomic Alleles

Transcript Alleles