Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521450A>C , CM000671.2:g.131521450A>C	GRCh38
NC_000009.11:g.134396837A>C , CM000671.1:g.134396837A>C	GRCh37
NC_000009.10:g.133386658A>C	NCBI36
NG_008896.1:g.23549A>C
NG_008896.2:g.23549A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1641A>C	ENSP00000343034.7:p.Arg547Ser
ENST00000404875.7:n.2343A>C
ENST00000423007.6:c.1860A>C	ENSP00000404119.2:p.Arg620Ser
ENST00000677295.2:c.*2147A>C	ENSP00000504346.2:n.*2147A>C
ENST00000678264.2:c.*1986A>C	ENSP00000503157.2:n.*1986A>C
ENST00000682070.1:n.2268A>C
ENST00000682813.1:n.2207A>C
ENST00000683392.1:n.4550A>C
ENST00000683712.1:n.2208A>C
ENST00000683900.1:n.3703A>C
ENST00000684062.1:n.2469A>C
ENST00000684579.1:n.3649A>C
ENST00000684679.1:n.1030A>C
ENST00000341012.12:c.1641A>C	ENSP00000343034.7:p.Arg547Ser
ENST00000372220.5:c.672A>C	ENSP00000361294.5:p.Arg224Ser
ENST00000372228.9:c.1869A>C	ENSP00000361302.3:p.Arg623Ser
ENST00000402686.8:c.1803A>C MANE Select	ENSP00000385797.4:p.Arg601Ser
ENST00000676640.1:c.1803A>C	ENSP00000503281.1:p.Arg601Ser
ENST00000676803.1:c.864A>C	ENSP00000503093.1:p.Arg288Ser
ENST00000676835.1:c.*1018A>C	ENSP00000502911.1:n.*1018A>C
ENST00000677029.1:c.1347A>C	ENSP00000502936.1:p.Arg449Ser
ENST00000677099.1:c.*1513A>C	ENSP00000504553.1:n.*1513A>C
ENST00000677216.1:c.1452A>C	ENSP00000503772.1:p.Arg484Ser
ENST00000677221.1:n.828A>C
ENST00000677295.1:c.*1180A>C	ENSP00000504346.1:n.*1180A>C
ENST00000677444.1:c.1748A>C
ENST00000677586.1:n.1170A>C
ENST00000677626.1:c.1452A>C	ENSP00000503552.1:p.Arg484Ser
ENST00000677853.1:c.*811A>C	ENSP00000503488.1:n.*811A>C
ENST00000678202.1:n.962A>C
ENST00000678264.1:c.*1180A>C	ENSP00000503157.1:n.*1180A>C
ENST00000678303.1:c.1713A>C	ENSP00000503696.1:p.Arg571Ser
ENST00000678366.1:c.*2052A>C	ENSP00000504353.1:n.*2052A>C
ENST00000678546.1:c.*1748A>C	ENSP00000503062.1:n.*1748A>C
ENST00000678548.1:c.*1875A>C	ENSP00000503934.1:n.*1875A>C
ENST00000678626.1:n.1639A>C
ENST00000678739.1:c.*2124A>C	ENSP00000503806.1:n.*2124A>C
ENST00000678833.1:c.*1555A>C	ENSP00000503893.1:n.*1555A>C
ENST00000679023.1:c.1641A>C	ENSP00000503718.1:p.Arg547Ser
ENST00000679076.1:c.1422A>C
ENST00000679111.1:c.*559A>C	ENSP00000504257.1:n.*559A>C
ENST00000679189.1:c.1452A>C	ENSP00000503356.1:p.Arg484Ser
ENST00000341012.11:c.1641A>C	ENSP00000343034.7:p.Arg547Ser
ENST00000372220.4:c.666A>C	ENSP00000361294.4:p.Arg222Ser
ENST00000372228.7:c.1869A>C	ENSP00000361302.3:p.Arg623Ser
ENST00000402686.7:c.1803A>C	ENSP00000385797.3:p.Arg601Ser
ENST00000404875.6:c.1452A>C	ENSP00000384531.2:p.Arg484Ser
ENST00000423007.5:c.1803A>C	ENSP00000404119.1:p.Arg601Ser
ENST00000485278.5:n.2353A>C
ENST00000494883.1:n.346A>C
NM_001077365.1:c.1803A>C	NP_001070833.1:p.Arg601Ser
NM_001077366.1:c.1641A>C	NP_001070834.1:p.Arg547Ser
NM_001136113.1:c.1803A>C	NP_001129585.1:p.Arg601Ser
NM_001136114.1:c.1452A>C	NP_001129586.1:p.Arg484Ser
NM_007171.3:c.1869A>C	NP_009102.3:p.Arg623Ser
XM_005272156.1:c.1869A>C	XP_005272213.1:p.Arg623Ser
XM_005272158.1:c.1707A>C	XP_005272215.1:p.Arg569Ser
XM_005272159.1:c.1518A>C	XP_005272216.1:p.Arg506Ser
XM_005272162.1:c.672A>C	XP_005272219.1:p.Arg224Ser
XM_006716932.1:c.1518A>C	XP_006716995.1:p.Arg506Ser
XM_011518140.1:c.1722A>C	XP_011516442.1:p.Arg574Ser
XM_011518141.1:c.1656A>C	XP_011516443.1:p.Arg552Ser
XM_011518142.1:c.1560A>C	XP_011516444.1:p.Arg520Ser
XM_011518143.1:c.1554A>C	XP_011516445.1:p.Arg518Ser
XM_011518145.1:c.1413A>C	XP_011516447.1:p.Arg471Ser
XM_011518147.1:c.741A>C	XP_011516449.1:p.Arg247Ser
XR_929703.1:n.2045A>C
NM_001353193.1:c.1869A>C	NP_001340122.1:p.Arg623Ser
NM_001353194.1:c.1641A>C	NP_001340123.1:p.Arg547Ser
NM_001353195.1:c.1452A>C	NP_001340124.1:p.Arg484Ser
NM_001353196.1:c.1713A>C	NP_001340125.1:p.Arg571Ser
NM_001353197.1:c.1707A>C	NP_001340126.1:p.Arg569Ser
NM_001353198.1:c.1707A>C	NP_001340127.1:p.Arg569Ser
NM_001353199.1:c.1518A>C	NP_001340128.1:p.Arg506Ser
NM_001353200.1:c.1347A>C	NP_001340129.1:p.Arg449Ser
NR_148391.1:n.1853A>C
NR_148392.1:n.2071A>C
NR_148393.1:n.1992A>C
NR_148394.1:n.1746A>C
NR_148395.1:n.2144A>C
NR_148396.1:n.1778A>C
NR_148397.1:n.1903A>C
NR_148398.1:n.1858A>C
NR_148399.1:n.2384A>C
NR_148400.1:n.1983A>C
XM_005272162.3:c.672A>C	XP_005272219.1:p.Arg224Ser
XM_006716932.2:c.1518A>C	XP_006716995.1:p.Arg506Ser
XM_011518140.2:c.1722A>C	XP_011516442.1:p.Arg574Ser
XM_011518141.2:c.1656A>C	XP_011516443.1:p.Arg552Ser
XM_011518142.2:c.1560A>C	XP_011516444.1:p.Arg520Ser
XM_011518143.2:c.1554A>C	XP_011516445.1:p.Arg518Ser
XM_011518145.2:c.1413A>C	XP_011516447.1:p.Arg471Ser
XM_017014205.2:c.672A>C	XP_016869694.1:p.Arg224Ser
XM_024447380.1:c.672A>C	XP_024303148.1:p.Arg224Ser
XM_024447381.1:c.978A>C	XP_024303149.1:p.Arg326Ser
XM_024447382.1:c.672A>C	XP_024303150.1:p.Arg224Ser
XR_001746160.2:n.1973A>C
XR_001746162.2:n.2178A>C
XR_001746164.1:n.1895A>C
XR_001746166.2:n.2190A>C
NM_001077365.2:c.1803A>C MANE Select	NP_001070833.1:p.Arg601Ser
NM_001077366.2:c.1641A>C	NP_001070834.1:p.Arg547Ser
NM_001136113.2:c.1803A>C	NP_001129585.1:p.Arg601Ser
NM_001136114.2:c.1452A>C	NP_001129586.1:p.Arg484Ser
NM_001353193.2:c.1869A>C	NP_001340122.2:p.Arg623Ser
NM_001353194.2:c.1641A>C	NP_001340123.1:p.Arg547Ser
NM_001353195.2:c.1452A>C	NP_001340124.1:p.Arg484Ser
NM_001353196.2:c.1713A>C	NP_001340125.1:p.Arg571Ser
NM_001353197.2:c.1707A>C	NP_001340126.2:p.Arg569Ser
NM_001353198.2:c.1707A>C	NP_001340127.2:p.Arg569Ser
NM_001353199.2:c.1518A>C	NP_001340128.2:p.Arg506Ser
NM_001353200.2:c.1347A>C	NP_001340129.1:p.Arg449Ser
NM_001374689.1:c.1791A>C	NP_001361618.1:p.Arg597Ser
NM_001374690.1:c.1584A>C	NP_001361619.1:p.Arg528Ser
NM_001374691.1:c.1452A>C	NP_001361620.1:p.Arg484Ser
NM_001374692.1:c.1452A>C	NP_001361621.1:p.Arg484Ser
NM_001374693.1:c.1452A>C	NP_001361622.1:p.Arg484Ser
NM_001374695.1:c.1413A>C	NP_001361624.1:p.Arg471Ser
NM_007171.4:c.1869A>C	NP_009102.4:p.Arg623Ser
NR_148391.2:n.1837A>C
NR_148392.2:n.2055A>C
NR_148393.2:n.1976A>C
NR_148394.2:n.1730A>C
NR_148395.2:n.2128A>C
NR_148396.2:n.1762A>C
NR_148397.2:n.1887A>C
NR_148398.2:n.1842A>C
NR_148399.2:n.2368A>C
NR_148400.2:n.1967A>C

Linked Data

Genomic Alleles

Transcript Alleles