Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521353T>C , CM000671.2:g.131521353T>C	GRCh38
NC_000009.11:g.134396740T>C , CM000671.1:g.134396740T>C	GRCh37
NC_000009.10:g.133386561T>C	NCBI36
NG_008896.1:g.23452T>C
NG_008896.2:g.23452T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1544T>C	ENSP00000343034.7:p.Ile515Thr
ENST00000404875.7:n.2246T>C
ENST00000423007.6:c.1763T>C	ENSP00000404119.2:p.Ile588Thr
ENST00000677295.2:c.*2050T>C	ENSP00000504346.2:n.*2050T>C
ENST00000678264.2:c.*1889T>C	ENSP00000503157.2:n.*1889T>C
ENST00000682070.1:n.2171T>C
ENST00000682813.1:n.2110T>C
ENST00000683392.1:n.4453T>C
ENST00000683712.1:n.2111T>C
ENST00000683900.1:n.3606T>C
ENST00000684062.1:n.2372T>C
ENST00000684579.1:n.3552T>C
ENST00000684679.1:n.933T>C
ENST00000341012.12:c.1544T>C	ENSP00000343034.7:p.Ile515Thr
ENST00000372220.5:c.575T>C	ENSP00000361294.5:p.Ile192Thr
ENST00000372228.9:c.1772T>C	ENSP00000361302.3:p.Ile591Thr
ENST00000402686.8:c.1706T>C MANE Select	ENSP00000385797.4:p.Ile569Thr
ENST00000676640.1:c.1706T>C	ENSP00000503281.1:p.Ile569Thr
ENST00000676803.1:c.767T>C	ENSP00000503093.1:p.Ile256Thr
ENST00000676835.1:c.*921T>C	ENSP00000502911.1:n.*921T>C
ENST00000677029.1:c.1250T>C	ENSP00000502936.1:p.Ile417Thr
ENST00000677099.1:c.*1416T>C	ENSP00000504553.1:n.*1416T>C
ENST00000677216.1:c.1355T>C	ENSP00000503772.1:p.Ile452Thr
ENST00000677221.1:n.731T>C
ENST00000677295.1:c.*1083T>C	ENSP00000504346.1:n.*1083T>C
ENST00000677444.1:c.1651T>C
ENST00000677586.1:n.1073T>C
ENST00000677626.1:c.1355T>C	ENSP00000503552.1:p.Ile452Thr
ENST00000677853.1:c.*714T>C	ENSP00000503488.1:n.*714T>C
ENST00000678202.1:n.865T>C
ENST00000678264.1:c.*1083T>C	ENSP00000503157.1:n.*1083T>C
ENST00000678303.1:c.1616T>C	ENSP00000503696.1:p.Ile539Thr
ENST00000678366.1:c.*1955T>C	ENSP00000504353.1:n.*1955T>C
ENST00000678546.1:c.*1651T>C	ENSP00000503062.1:n.*1651T>C
ENST00000678548.1:c.*1778T>C	ENSP00000503934.1:n.*1778T>C
ENST00000678626.1:n.1542T>C
ENST00000678739.1:c.*2027T>C	ENSP00000503806.1:n.*2027T>C
ENST00000678833.1:c.*1458T>C	ENSP00000503893.1:n.*1458T>C
ENST00000679023.1:c.1544T>C	ENSP00000503718.1:p.Ile515Thr
ENST00000679076.1:c.1325T>C
ENST00000679111.1:c.*462T>C	ENSP00000504257.1:n.*462T>C
ENST00000679189.1:c.1355T>C	ENSP00000503356.1:p.Ile452Thr
ENST00000341012.11:c.1544T>C	ENSP00000343034.7:p.Ile515Thr
ENST00000372220.4:c.569T>C	ENSP00000361294.4:p.Ile190Thr
ENST00000372228.7:c.1772T>C	ENSP00000361302.3:p.Ile591Thr
ENST00000402686.7:c.1706T>C	ENSP00000385797.3:p.Ile569Thr
ENST00000404875.6:c.1355T>C	ENSP00000384531.2:p.Ile452Thr
ENST00000423007.5:c.1706T>C	ENSP00000404119.1:p.Ile569Thr
ENST00000467848.1:n.410T>C
ENST00000485278.5:n.2256T>C
ENST00000494883.1:n.249T>C
NM_001077365.1:c.1706T>C	NP_001070833.1:p.Ile569Thr
NM_001077366.1:c.1544T>C	NP_001070834.1:p.Ile515Thr
NM_001136113.1:c.1706T>C	NP_001129585.1:p.Ile569Thr
NM_001136114.1:c.1355T>C	NP_001129586.1:p.Ile452Thr
NM_007171.3:c.1772T>C	NP_009102.3:p.Ile591Thr
XM_005272156.1:c.1772T>C	XP_005272213.1:p.Ile591Thr
XM_005272158.1:c.1610T>C	XP_005272215.1:p.Ile537Thr
XM_005272159.1:c.1421T>C	XP_005272216.1:p.Ile474Thr
XM_005272162.1:c.575T>C	XP_005272219.1:p.Ile192Thr
XM_006716932.1:c.1421T>C	XP_006716995.1:p.Ile474Thr
XM_011518140.1:c.1625T>C	XP_011516442.1:p.Ile542Thr
XM_011518141.1:c.1559T>C	XP_011516443.1:p.Ile520Thr
XM_011518142.1:c.1463T>C	XP_011516444.1:p.Ile488Thr
XM_011518143.1:c.1457T>C	XP_011516445.1:p.Ile486Thr
XM_011518145.1:c.1316T>C	XP_011516447.1:p.Ile439Thr
XM_011518147.1:c.644T>C	XP_011516449.1:p.Ile215Thr
XR_929703.1:n.1948T>C
NM_001353193.1:c.1772T>C	NP_001340122.1:p.Ile591Thr
NM_001353194.1:c.1544T>C	NP_001340123.1:p.Ile515Thr
NM_001353195.1:c.1355T>C	NP_001340124.1:p.Ile452Thr
NM_001353196.1:c.1616T>C	NP_001340125.1:p.Ile539Thr
NM_001353197.1:c.1610T>C	NP_001340126.1:p.Ile537Thr
NM_001353198.1:c.1610T>C	NP_001340127.1:p.Ile537Thr
NM_001353199.1:c.1421T>C	NP_001340128.1:p.Ile474Thr
NM_001353200.1:c.1250T>C	NP_001340129.1:p.Ile417Thr
NR_148391.1:n.1756T>C
NR_148392.1:n.1974T>C
NR_148393.1:n.1895T>C
NR_148394.1:n.1649T>C
NR_148395.1:n.2047T>C
NR_148396.1:n.1681T>C
NR_148397.1:n.1806T>C
NR_148398.1:n.1761T>C
NR_148399.1:n.2287T>C
NR_148400.1:n.1886T>C
XM_005272162.3:c.575T>C	XP_005272219.1:p.Ile192Thr
XM_006716932.2:c.1421T>C	XP_006716995.1:p.Ile474Thr
XM_011518140.2:c.1625T>C	XP_011516442.1:p.Ile542Thr
XM_011518141.2:c.1559T>C	XP_011516443.1:p.Ile520Thr
XM_011518142.2:c.1463T>C	XP_011516444.1:p.Ile488Thr
XM_011518143.2:c.1457T>C	XP_011516445.1:p.Ile486Thr
XM_011518145.2:c.1316T>C	XP_011516447.1:p.Ile439Thr
XM_017014205.2:c.575T>C	XP_016869694.1:p.Ile192Thr
XM_024447380.1:c.575T>C	XP_024303148.1:p.Ile192Thr
XM_024447381.1:c.881T>C	XP_024303149.1:p.Ile294Thr
XM_024447382.1:c.575T>C	XP_024303150.1:p.Ile192Thr
XR_001746160.2:n.1876T>C
XR_001746162.2:n.2081T>C
XR_001746164.1:n.1798T>C
XR_001746166.2:n.2093T>C
NM_001077365.2:c.1706T>C MANE Select	NP_001070833.1:p.Ile569Thr
NM_001077366.2:c.1544T>C	NP_001070834.1:p.Ile515Thr
NM_001136113.2:c.1706T>C	NP_001129585.1:p.Ile569Thr
NM_001136114.2:c.1355T>C	NP_001129586.1:p.Ile452Thr
NM_001353193.2:c.1772T>C	NP_001340122.2:p.Ile591Thr
NM_001353194.2:c.1544T>C	NP_001340123.1:p.Ile515Thr
NM_001353195.2:c.1355T>C	NP_001340124.1:p.Ile452Thr
NM_001353196.2:c.1616T>C	NP_001340125.1:p.Ile539Thr
NM_001353197.2:c.1610T>C	NP_001340126.2:p.Ile537Thr
NM_001353198.2:c.1610T>C	NP_001340127.2:p.Ile537Thr
NM_001353199.2:c.1421T>C	NP_001340128.2:p.Ile474Thr
NM_001353200.2:c.1250T>C	NP_001340129.1:p.Ile417Thr
NM_001374689.1:c.1694T>C	NP_001361618.1:p.Ile565Thr
NM_001374690.1:c.1487T>C	NP_001361619.1:p.Ile496Thr
NM_001374691.1:c.1355T>C	NP_001361620.1:p.Ile452Thr
NM_001374692.1:c.1355T>C	NP_001361621.1:p.Ile452Thr
NM_001374693.1:c.1355T>C	NP_001361622.1:p.Ile452Thr
NM_001374695.1:c.1316T>C	NP_001361624.1:p.Ile439Thr
NM_007171.4:c.1772T>C	NP_009102.4:p.Ile591Thr
NR_148391.2:n.1740T>C
NR_148392.2:n.1958T>C
NR_148393.2:n.1879T>C
NR_148394.2:n.1633T>C
NR_148395.2:n.2031T>C
NR_148396.2:n.1665T>C
NR_148397.2:n.1790T>C
NR_148398.2:n.1745T>C
NR_148399.2:n.2271T>C
NR_148400.2:n.1870T>C

Linked Data

Genomic Alleles

Transcript Alleles