Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523035T>C , CM000671.2:g.131523035T>C	GRCh38
NC_000009.11:g.134398422T>C , CM000671.1:g.134398422T>C	GRCh37
NC_000009.10:g.133388243T>C	NCBI36
NG_008896.1:g.25134T>C
NG_008896.2:g.25134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1945T>C	ENSP00000343034.7:p.Ser649Pro
ENST00000404875.7:n.2647T>C
ENST00000423007.6:c.2164T>C	ENSP00000404119.2:p.Ser722Pro
ENST00000677295.2:c.*2451T>C	ENSP00000504346.2:n.*2451T>C
ENST00000678264.2:c.*2290T>C	ENSP00000503157.2:n.*2290T>C
ENST00000682070.1:n.2417T>C
ENST00000682639.1:c.104T>C
ENST00000682813.1:n.2504T>C
ENST00000683231.1:c.104T>C
ENST00000683392.1:n.4699T>C
ENST00000683712.1:n.2512T>C
ENST00000683900.1:n.4007T>C
ENST00000684062.1:n.2773T>C
ENST00000684399.1:c.104T>C
ENST00000684579.1:n.3953T>C
ENST00000341012.12:c.1945T>C	ENSP00000343034.7:p.Ser649Pro
ENST00000372220.5:c.976T>C	ENSP00000361294.5:p.Ser326Pro
ENST00000372228.9:c.2173T>C	ENSP00000361302.3:p.Ser725Pro
ENST00000402686.8:c.2107T>C MANE Select	ENSP00000385797.4:p.Ser703Pro
ENST00000676640.1:c.2107T>C	ENSP00000503281.1:p.Ser703Pro
ENST00000676803.1:c.1168T>C	ENSP00000503093.1:p.Ser390Pro
ENST00000676835.1:c.*1322T>C	ENSP00000502911.1:n.*1322T>C
ENST00000677029.1:c.1651T>C	ENSP00000502936.1:p.Ser551Pro
ENST00000677099.1:c.*1817T>C	ENSP00000504553.1:n.*1817T>C
ENST00000677216.1:c.1756T>C	ENSP00000503772.1:p.Ser586Pro
ENST00000677295.1:c.*1329T>C	ENSP00000504346.1:n.*1329T>C
ENST00000677444.1:c.2052T>C
ENST00000677586.1:n.1474T>C
ENST00000677626.1:c.1756T>C	ENSP00000503552.1:p.Ser586Pro
ENST00000677853.1:c.*1115T>C	ENSP00000503488.1:n.*1115T>C
ENST00000678264.1:c.*1484T>C	ENSP00000503157.1:n.*1484T>C
ENST00000678303.1:c.2017T>C	ENSP00000503696.1:p.Ser673Pro
ENST00000678366.1:c.*2356T>C	ENSP00000504353.1:n.*2356T>C
ENST00000678546.1:c.*2052T>C	ENSP00000503062.1:n.*2052T>C
ENST00000678548.1:c.*2246T>C	ENSP00000503934.1:n.*2246T>C
ENST00000678626.1:n.1943T>C
ENST00000678739.1:c.*2273T>C	ENSP00000503806.1:n.*2273T>C
ENST00000678833.1:c.*1859T>C	ENSP00000503893.1:n.*1859T>C
ENST00000679023.1:c.1945T>C	ENSP00000503718.1:p.Ser649Pro
ENST00000679076.1:c.1726T>C
ENST00000679111.1:c.*863T>C	ENSP00000504257.1:n.*863T>C
ENST00000679189.1:c.1756T>C	ENSP00000503356.1:p.Ser586Pro
ENST00000341012.11:c.1945T>C	ENSP00000343034.7:p.Ser649Pro
ENST00000372220.4:c.970T>C	ENSP00000361294.4:p.Ser324Pro
ENST00000372228.7:c.2173T>C	ENSP00000361302.3:p.Ser725Pro
ENST00000402686.7:c.2107T>C	ENSP00000385797.3:p.Ser703Pro
ENST00000404875.6:c.1756T>C	ENSP00000384531.2:p.Ser586Pro
ENST00000423007.5:c.2107T>C	ENSP00000404119.1:p.Ser703Pro
ENST00000485278.5:n.2657T>C
NM_001077365.1:c.2107T>C	NP_001070833.1:p.Ser703Pro
NM_001077366.1:c.1945T>C	NP_001070834.1:p.Ser649Pro
NM_001136113.1:c.2107T>C	NP_001129585.1:p.Ser703Pro
NM_001136114.1:c.1756T>C	NP_001129586.1:p.Ser586Pro
NM_007171.3:c.2173T>C	NP_009102.3:p.Ser725Pro
XM_005272156.1:c.2173T>C	XP_005272213.1:p.Ser725Pro
XM_005272158.1:c.2011T>C	XP_005272215.1:p.Ser671Pro
XM_005272159.1:c.1822T>C	XP_005272216.1:p.Ser608Pro
XM_005272162.1:c.976T>C	XP_005272219.1:p.Ser326Pro
XM_006716932.1:c.1822T>C	XP_006716995.1:p.Ser608Pro
XM_011518140.1:c.2026T>C	XP_011516442.1:p.Ser676Pro
XM_011518141.1:c.1960T>C	XP_011516443.1:p.Ser654Pro
XM_011518142.1:c.1864T>C	XP_011516444.1:p.Ser622Pro
XM_011518143.1:c.1858T>C	XP_011516445.1:p.Ser620Pro
XM_011518145.1:c.1717T>C	XP_011516447.1:p.Ser573Pro
XM_011518147.1:c.1045T>C	XP_011516449.1:p.Ser349Pro
XR_929703.1:n.2349T>C
NM_001353193.1:c.2173T>C	NP_001340122.1:p.Ser725Pro
NM_001353194.1:c.1945T>C	NP_001340123.1:p.Ser649Pro
NM_001353195.1:c.1756T>C	NP_001340124.1:p.Ser586Pro
NM_001353196.1:c.2017T>C	NP_001340125.1:p.Ser673Pro
NM_001353197.1:c.2011T>C	NP_001340126.1:p.Ser671Pro
NM_001353198.1:c.2011T>C	NP_001340127.1:p.Ser671Pro
NM_001353199.1:c.1822T>C	NP_001340128.1:p.Ser608Pro
NM_001353200.1:c.1651T>C	NP_001340129.1:p.Ser551Pro
NR_148391.1:n.2157T>C
NR_148392.1:n.2375T>C
NR_148393.1:n.2296T>C
NR_148394.1:n.2050T>C
NR_148395.1:n.2448T>C
NR_148396.1:n.2082T>C
NR_148397.1:n.2207T>C
NR_148398.1:n.2162T>C
NR_148399.1:n.2688T>C
NR_148400.1:n.2287T>C
XM_005272162.3:c.976T>C	XP_005272219.1:p.Ser326Pro
XM_006716932.2:c.1822T>C	XP_006716995.1:p.Ser608Pro
XM_011518140.2:c.2026T>C	XP_011516442.1:p.Ser676Pro
XM_011518141.2:c.1960T>C	XP_011516443.1:p.Ser654Pro
XM_011518142.2:c.1864T>C	XP_011516444.1:p.Ser622Pro
XM_011518143.2:c.1858T>C	XP_011516445.1:p.Ser620Pro
XM_011518145.2:c.1717T>C	XP_011516447.1:p.Ser573Pro
XM_017014205.2:c.976T>C	XP_016869694.1:p.Ser326Pro
XM_024447380.1:c.976T>C	XP_024303148.1:p.Ser326Pro
XM_024447381.1:c.1282T>C	XP_024303149.1:p.Ser428Pro
XM_024447382.1:c.976T>C	XP_024303150.1:p.Ser326Pro
XR_001746160.2:n.2277T>C
XR_001746162.2:n.2482T>C
XR_001746164.1:n.2199T>C
XR_001746166.2:n.2494T>C
NM_001077365.2:c.2107T>C MANE Select	NP_001070833.1:p.Ser703Pro
NM_001077366.2:c.1945T>C	NP_001070834.1:p.Ser649Pro
NM_001136113.2:c.2107T>C	NP_001129585.1:p.Ser703Pro
NM_001136114.2:c.1756T>C	NP_001129586.1:p.Ser586Pro
NM_001353193.2:c.2173T>C	NP_001340122.2:p.Ser725Pro
NM_001353194.2:c.1945T>C	NP_001340123.1:p.Ser649Pro
NM_001353195.2:c.1756T>C	NP_001340124.1:p.Ser586Pro
NM_001353196.2:c.2017T>C	NP_001340125.1:p.Ser673Pro
NM_001353197.2:c.2011T>C	NP_001340126.2:p.Ser671Pro
NM_001353198.2:c.2011T>C	NP_001340127.2:p.Ser671Pro
NM_001353199.2:c.1822T>C	NP_001340128.2:p.Ser608Pro
NM_001353200.2:c.1651T>C	NP_001340129.1:p.Ser551Pro
NM_001374689.1:c.2095T>C	NP_001361618.1:p.Ser699Pro
NM_001374690.1:c.1888T>C	NP_001361619.1:p.Ser630Pro
NM_001374691.1:c.1756T>C	NP_001361620.1:p.Ser586Pro
NM_001374692.1:c.1756T>C	NP_001361621.1:p.Ser586Pro
NM_001374693.1:c.1756T>C	NP_001361622.1:p.Ser586Pro
NM_001374695.1:c.1717T>C	NP_001361624.1:p.Ser573Pro
NM_007171.4:c.2173T>C	NP_009102.4:p.Ser725Pro
NR_148391.2:n.2141T>C
NR_148392.2:n.2359T>C
NR_148393.2:n.2280T>C
NR_148394.2:n.2034T>C
NR_148395.2:n.2432T>C
NR_148396.2:n.2066T>C
NR_148397.2:n.2191T>C
NR_148398.2:n.2146T>C
NR_148399.2:n.2672T>C
NR_148400.2:n.2271T>C

Linked Data

Genomic Alleles

Transcript Alleles