Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523090T>C , CM000671.2:g.131523090T>C	GRCh38
NC_000009.11:g.134398477T>C , CM000671.1:g.134398477T>C	GRCh37
NC_000009.10:g.133388298T>C	NCBI36
NG_008896.1:g.25189T>C
NG_008896.2:g.25189T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2000T>C	ENSP00000343034.7:p.Leu667Ser
ENST00000404875.7:n.2702T>C
ENST00000423007.6:c.2219T>C	ENSP00000404119.2:p.Leu740Ser
ENST00000677295.2:c.*2506T>C	ENSP00000504346.2:n.*2506T>C
ENST00000678264.2:c.*2345T>C	ENSP00000503157.2:n.*2345T>C
ENST00000682070.1:n.2472T>C
ENST00000682639.1:c.159T>C
ENST00000682813.1:n.2559T>C
ENST00000683231.1:c.159T>C
ENST00000683392.1:n.4754T>C
ENST00000683712.1:n.2567T>C
ENST00000683900.1:n.4062T>C
ENST00000684062.1:n.2828T>C
ENST00000684399.1:c.159T>C
ENST00000684579.1:n.4008T>C
ENST00000341012.12:c.2000T>C	ENSP00000343034.7:p.Leu667Ser
ENST00000372220.5:c.1031T>C	ENSP00000361294.5:p.Leu344Ser
ENST00000372228.9:c.2228T>C	ENSP00000361302.3:p.Leu743Ser
ENST00000402686.8:c.2162T>C MANE Select	ENSP00000385797.4:p.Leu721Ser
ENST00000676640.1:c.2162T>C	ENSP00000503281.1:p.Leu721Ser
ENST00000676803.1:c.1223T>C	ENSP00000503093.1:p.Leu408Ser
ENST00000676835.1:c.*1377T>C	ENSP00000502911.1:n.*1377T>C
ENST00000677029.1:c.1706T>C	ENSP00000502936.1:p.Leu569Ser
ENST00000677099.1:c.*1872T>C	ENSP00000504553.1:n.*1872T>C
ENST00000677216.1:c.1811T>C	ENSP00000503772.1:p.Leu604Ser
ENST00000677295.1:c.*1384T>C	ENSP00000504346.1:n.*1384T>C
ENST00000677444.1:c.2107T>C
ENST00000677586.1:n.1529T>C
ENST00000677626.1:c.1811T>C	ENSP00000503552.1:p.Leu604Ser
ENST00000677853.1:c.*1170T>C	ENSP00000503488.1:n.*1170T>C
ENST00000678264.1:c.*1539T>C	ENSP00000503157.1:n.*1539T>C
ENST00000678303.1:c.2072T>C	ENSP00000503696.1:p.Leu691Ser
ENST00000678366.1:c.*2411T>C	ENSP00000504353.1:n.*2411T>C
ENST00000678546.1:c.*2107T>C	ENSP00000503062.1:n.*2107T>C
ENST00000678548.1:c.*2301T>C	ENSP00000503934.1:n.*2301T>C
ENST00000678626.1:n.1998T>C
ENST00000678739.1:c.*2328T>C	ENSP00000503806.1:n.*2328T>C
ENST00000678833.1:c.*1914T>C	ENSP00000503893.1:n.*1914T>C
ENST00000679023.1:c.2000T>C	ENSP00000503718.1:p.Leu667Ser
ENST00000679076.1:c.1781T>C
ENST00000679111.1:c.*918T>C	ENSP00000504257.1:n.*918T>C
ENST00000679189.1:c.1811T>C	ENSP00000503356.1:p.Leu604Ser
ENST00000341012.11:c.2000T>C	ENSP00000343034.7:p.Leu667Ser
ENST00000372220.4:c.1025T>C	ENSP00000361294.4:p.Leu342Ser
ENST00000372228.7:c.2228T>C	ENSP00000361302.3:p.Leu743Ser
ENST00000402686.7:c.2162T>C	ENSP00000385797.3:p.Leu721Ser
ENST00000404875.6:c.1811T>C	ENSP00000384531.2:p.Leu604Ser
ENST00000423007.5:c.2162T>C	ENSP00000404119.1:p.Leu721Ser
ENST00000485278.5:n.2712T>C
NM_001077365.1:c.2162T>C	NP_001070833.1:p.Leu721Ser
NM_001077366.1:c.2000T>C	NP_001070834.1:p.Leu667Ser
NM_001136113.1:c.2162T>C	NP_001129585.1:p.Leu721Ser
NM_001136114.1:c.1811T>C	NP_001129586.1:p.Leu604Ser
NM_007171.3:c.2228T>C	NP_009102.3:p.Leu743Ser
XM_005272156.1:c.2228T>C	XP_005272213.1:p.Leu743Ser
XM_005272158.1:c.2066T>C	XP_005272215.1:p.Leu689Ser
XM_005272159.1:c.1877T>C	XP_005272216.1:p.Leu626Ser
XM_005272162.1:c.1031T>C	XP_005272219.1:p.Leu344Ser
XM_006716932.1:c.1877T>C	XP_006716995.1:p.Leu626Ser
XM_011518140.1:c.2081T>C	XP_011516442.1:p.Leu694Ser
XM_011518141.1:c.2015T>C	XP_011516443.1:p.Leu672Ser
XM_011518142.1:c.1919T>C	XP_011516444.1:p.Leu640Ser
XM_011518143.1:c.1913T>C	XP_011516445.1:p.Leu638Ser
XM_011518145.1:c.1772T>C	XP_011516447.1:p.Leu591Ser
XM_011518147.1:c.1100T>C	XP_011516449.1:p.Leu367Ser
XR_929703.1:n.2404T>C
NM_001353193.1:c.2228T>C	NP_001340122.1:p.Leu743Ser
NM_001353194.1:c.2000T>C	NP_001340123.1:p.Leu667Ser
NM_001353195.1:c.1811T>C	NP_001340124.1:p.Leu604Ser
NM_001353196.1:c.2072T>C	NP_001340125.1:p.Leu691Ser
NM_001353197.1:c.2066T>C	NP_001340126.1:p.Leu689Ser
NM_001353198.1:c.2066T>C	NP_001340127.1:p.Leu689Ser
NM_001353199.1:c.1877T>C	NP_001340128.1:p.Leu626Ser
NM_001353200.1:c.1706T>C	NP_001340129.1:p.Leu569Ser
NR_148391.1:n.2212T>C
NR_148392.1:n.2430T>C
NR_148393.1:n.2351T>C
NR_148394.1:n.2105T>C
NR_148395.1:n.2503T>C
NR_148396.1:n.2137T>C
NR_148397.1:n.2262T>C
NR_148398.1:n.2217T>C
NR_148399.1:n.2743T>C
NR_148400.1:n.2342T>C
XM_005272162.3:c.1031T>C	XP_005272219.1:p.Leu344Ser
XM_006716932.2:c.1877T>C	XP_006716995.1:p.Leu626Ser
XM_011518140.2:c.2081T>C	XP_011516442.1:p.Leu694Ser
XM_011518141.2:c.2015T>C	XP_011516443.1:p.Leu672Ser
XM_011518142.2:c.1919T>C	XP_011516444.1:p.Leu640Ser
XM_011518143.2:c.1913T>C	XP_011516445.1:p.Leu638Ser
XM_011518145.2:c.1772T>C	XP_011516447.1:p.Leu591Ser
XM_017014205.2:c.1031T>C	XP_016869694.1:p.Leu344Ser
XM_024447380.1:c.1031T>C	XP_024303148.1:p.Leu344Ser
XM_024447381.1:c.1337T>C	XP_024303149.1:p.Leu446Ser
XM_024447382.1:c.1031T>C	XP_024303150.1:p.Leu344Ser
XR_001746160.2:n.2332T>C
XR_001746162.2:n.2537T>C
XR_001746164.1:n.2254T>C
XR_001746166.2:n.2549T>C
NM_001077365.2:c.2162T>C MANE Select	NP_001070833.1:p.Leu721Ser
NM_001077366.2:c.2000T>C	NP_001070834.1:p.Leu667Ser
NM_001136113.2:c.2162T>C	NP_001129585.1:p.Leu721Ser
NM_001136114.2:c.1811T>C	NP_001129586.1:p.Leu604Ser
NM_001353193.2:c.2228T>C	NP_001340122.2:p.Leu743Ser
NM_001353194.2:c.2000T>C	NP_001340123.1:p.Leu667Ser
NM_001353195.2:c.1811T>C	NP_001340124.1:p.Leu604Ser
NM_001353196.2:c.2072T>C	NP_001340125.1:p.Leu691Ser
NM_001353197.2:c.2066T>C	NP_001340126.2:p.Leu689Ser
NM_001353198.2:c.2066T>C	NP_001340127.2:p.Leu689Ser
NM_001353199.2:c.1877T>C	NP_001340128.2:p.Leu626Ser
NM_001353200.2:c.1706T>C	NP_001340129.1:p.Leu569Ser
NM_001374689.1:c.2150T>C	NP_001361618.1:p.Leu717Ser
NM_001374690.1:c.1943T>C	NP_001361619.1:p.Leu648Ser
NM_001374691.1:c.1811T>C	NP_001361620.1:p.Leu604Ser
NM_001374692.1:c.1811T>C	NP_001361621.1:p.Leu604Ser
NM_001374693.1:c.1811T>C	NP_001361622.1:p.Leu604Ser
NM_001374695.1:c.1772T>C	NP_001361624.1:p.Leu591Ser
NM_007171.4:c.2228T>C	NP_009102.4:p.Leu743Ser
NR_148391.2:n.2196T>C
NR_148392.2:n.2414T>C
NR_148393.2:n.2335T>C
NR_148394.2:n.2089T>C
NR_148395.2:n.2487T>C
NR_148396.2:n.2121T>C
NR_148397.2:n.2246T>C
NR_148398.2:n.2201T>C
NR_148399.2:n.2727T>C
NR_148400.2:n.2326T>C

Linked Data

Genomic Alleles

Transcript Alleles