Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522218T>C , CM000671.2:g.131522218T>C	GRCh38
NC_000009.11:g.134397605T>C , CM000671.1:g.134397605T>C	GRCh37
NC_000009.10:g.133387426T>C	NCBI36
NG_008896.1:g.24317T>C
NG_008896.2:g.24317T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1835T>C	ENSP00000343034.7:p.Leu612Pro
ENST00000404875.7:n.2537T>C
ENST00000423007.6:c.2054T>C	ENSP00000404119.2:p.Leu685Pro
ENST00000677295.2:c.*2341T>C	ENSP00000504346.2:n.*2341T>C
ENST00000678264.2:c.*2180T>C	ENSP00000503157.2:n.*2180T>C
ENST00000682070.1:n.2307T>C
ENST00000682813.1:n.2401T>C
ENST00000683392.1:n.4589T>C
ENST00000683712.1:n.2402T>C
ENST00000683900.1:n.3897T>C
ENST00000684062.1:n.2663T>C
ENST00000684579.1:n.3843T>C
ENST00000341012.12:c.1835T>C	ENSP00000343034.7:p.Leu612Pro
ENST00000372220.5:c.866T>C	ENSP00000361294.5:p.Leu289Pro
ENST00000372228.9:c.2063T>C	ENSP00000361302.3:p.Leu688Pro
ENST00000402686.8:c.1997T>C MANE Select	ENSP00000385797.4:p.Leu666Pro
ENST00000676640.1:c.1997T>C	ENSP00000503281.1:p.Leu666Pro
ENST00000676803.1:c.1058T>C	ENSP00000503093.1:p.Leu353Pro
ENST00000676835.1:c.*1212T>C	ENSP00000502911.1:n.*1212T>C
ENST00000677029.1:c.1541T>C	ENSP00000502936.1:p.Leu514Pro
ENST00000677099.1:c.*1707T>C	ENSP00000504553.1:n.*1707T>C
ENST00000677216.1:c.1646T>C	ENSP00000503772.1:p.Leu549Pro
ENST00000677221.1:n.1022T>C
ENST00000677295.1:c.*1219T>C	ENSP00000504346.1:n.*1219T>C
ENST00000677444.1:c.1942T>C
ENST00000677586.1:n.1364T>C
ENST00000677626.1:c.1646T>C	ENSP00000503552.1:p.Leu549Pro
ENST00000677853.1:c.*1005T>C	ENSP00000503488.1:n.*1005T>C
ENST00000678264.1:c.*1374T>C	ENSP00000503157.1:n.*1374T>C
ENST00000678303.1:c.1907T>C	ENSP00000503696.1:p.Leu636Pro
ENST00000678366.1:c.*2246T>C	ENSP00000504353.1:n.*2246T>C
ENST00000678546.1:c.*1942T>C	ENSP00000503062.1:n.*1942T>C
ENST00000678548.1:c.*2136T>C	ENSP00000503934.1:n.*2136T>C
ENST00000678626.1:n.1833T>C
ENST00000678739.1:c.*2163T>C	ENSP00000503806.1:n.*2163T>C
ENST00000678833.1:c.*1749T>C	ENSP00000503893.1:n.*1749T>C
ENST00000679023.1:c.1835T>C	ENSP00000503718.1:p.Leu612Pro
ENST00000679076.1:c.1616T>C
ENST00000679111.1:c.*753T>C	ENSP00000504257.1:n.*753T>C
ENST00000679189.1:c.1646T>C	ENSP00000503356.1:p.Leu549Pro
ENST00000341012.11:c.1835T>C	ENSP00000343034.7:p.Leu612Pro
ENST00000372220.4:c.860T>C	ENSP00000361294.4:p.Leu287Pro
ENST00000372228.7:c.2063T>C	ENSP00000361302.3:p.Leu688Pro
ENST00000402686.7:c.1997T>C	ENSP00000385797.3:p.Leu666Pro
ENST00000404875.6:c.1646T>C	ENSP00000384531.2:p.Leu549Pro
ENST00000423007.5:c.1997T>C	ENSP00000404119.1:p.Leu666Pro
ENST00000485278.5:n.2547T>C
ENST00000494883.1:n.540T>C
NM_001077365.1:c.1997T>C	NP_001070833.1:p.Leu666Pro
NM_001077366.1:c.1835T>C	NP_001070834.1:p.Leu612Pro
NM_001136113.1:c.1997T>C	NP_001129585.1:p.Leu666Pro
NM_001136114.1:c.1646T>C	NP_001129586.1:p.Leu549Pro
NM_007171.3:c.2063T>C	NP_009102.3:p.Leu688Pro
XM_005272156.1:c.2063T>C	XP_005272213.1:p.Leu688Pro
XM_005272158.1:c.1901T>C	XP_005272215.1:p.Leu634Pro
XM_005272159.1:c.1712T>C	XP_005272216.1:p.Leu571Pro
XM_005272162.1:c.866T>C	XP_005272219.1:p.Leu289Pro
XM_006716932.1:c.1712T>C	XP_006716995.1:p.Leu571Pro
XM_011518140.1:c.1916T>C	XP_011516442.1:p.Leu639Pro
XM_011518141.1:c.1850T>C	XP_011516443.1:p.Leu617Pro
XM_011518142.1:c.1754T>C	XP_011516444.1:p.Leu585Pro
XM_011518143.1:c.1748T>C	XP_011516445.1:p.Leu583Pro
XM_011518145.1:c.1607T>C	XP_011516447.1:p.Leu536Pro
XM_011518147.1:c.935T>C	XP_011516449.1:p.Leu312Pro
XR_929703.1:n.2239T>C
NM_001353193.1:c.2063T>C	NP_001340122.1:p.Leu688Pro
NM_001353194.1:c.1835T>C	NP_001340123.1:p.Leu612Pro
NM_001353195.1:c.1646T>C	NP_001340124.1:p.Leu549Pro
NM_001353196.1:c.1907T>C	NP_001340125.1:p.Leu636Pro
NM_001353197.1:c.1901T>C	NP_001340126.1:p.Leu634Pro
NM_001353198.1:c.1901T>C	NP_001340127.1:p.Leu634Pro
NM_001353199.1:c.1712T>C	NP_001340128.1:p.Leu571Pro
NM_001353200.1:c.1541T>C	NP_001340129.1:p.Leu514Pro
NR_148391.1:n.2047T>C
NR_148392.1:n.2265T>C
NR_148393.1:n.2186T>C
NR_148394.1:n.1940T>C
NR_148395.1:n.2338T>C
NR_148396.1:n.1972T>C
NR_148397.1:n.2097T>C
NR_148398.1:n.2052T>C
NR_148399.1:n.2578T>C
NR_148400.1:n.2177T>C
XM_005272162.3:c.866T>C	XP_005272219.1:p.Leu289Pro
XM_006716932.2:c.1712T>C	XP_006716995.1:p.Leu571Pro
XM_011518140.2:c.1916T>C	XP_011516442.1:p.Leu639Pro
XM_011518141.2:c.1850T>C	XP_011516443.1:p.Leu617Pro
XM_011518142.2:c.1754T>C	XP_011516444.1:p.Leu585Pro
XM_011518143.2:c.1748T>C	XP_011516445.1:p.Leu583Pro
XM_011518145.2:c.1607T>C	XP_011516447.1:p.Leu536Pro
XM_017014205.2:c.866T>C	XP_016869694.1:p.Leu289Pro
XM_024447380.1:c.866T>C	XP_024303148.1:p.Leu289Pro
XM_024447381.1:c.1172T>C	XP_024303149.1:p.Leu391Pro
XM_024447382.1:c.866T>C	XP_024303150.1:p.Leu289Pro
XR_001746160.2:n.2167T>C
XR_001746162.2:n.2372T>C
XR_001746164.1:n.2089T>C
XR_001746166.2:n.2384T>C
NM_001077365.2:c.1997T>C MANE Select	NP_001070833.1:p.Leu666Pro
NM_001077366.2:c.1835T>C	NP_001070834.1:p.Leu612Pro
NM_001136113.2:c.1997T>C	NP_001129585.1:p.Leu666Pro
NM_001136114.2:c.1646T>C	NP_001129586.1:p.Leu549Pro
NM_001353193.2:c.2063T>C	NP_001340122.2:p.Leu688Pro
NM_001353194.2:c.1835T>C	NP_001340123.1:p.Leu612Pro
NM_001353195.2:c.1646T>C	NP_001340124.1:p.Leu549Pro
NM_001353196.2:c.1907T>C	NP_001340125.1:p.Leu636Pro
NM_001353197.2:c.1901T>C	NP_001340126.2:p.Leu634Pro
NM_001353198.2:c.1901T>C	NP_001340127.2:p.Leu634Pro
NM_001353199.2:c.1712T>C	NP_001340128.2:p.Leu571Pro
NM_001353200.2:c.1541T>C	NP_001340129.1:p.Leu514Pro
NM_001374689.1:c.1985T>C	NP_001361618.1:p.Leu662Pro
NM_001374690.1:c.1778T>C	NP_001361619.1:p.Leu593Pro
NM_001374691.1:c.1646T>C	NP_001361620.1:p.Leu549Pro
NM_001374692.1:c.1646T>C	NP_001361621.1:p.Leu549Pro
NM_001374693.1:c.1646T>C	NP_001361622.1:p.Leu549Pro
NM_001374695.1:c.1607T>C	NP_001361624.1:p.Leu536Pro
NM_007171.4:c.2063T>C	NP_009102.4:p.Leu688Pro
NR_148391.2:n.2031T>C
NR_148392.2:n.2249T>C
NR_148393.2:n.2170T>C
NR_148394.2:n.1924T>C
NR_148395.2:n.2322T>C
NR_148396.2:n.1956T>C
NR_148397.2:n.2081T>C
NR_148398.2:n.2036T>C
NR_148399.2:n.2562T>C
NR_148400.2:n.2161T>C

Linked Data

Genomic Alleles

Transcript Alleles