Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522155T>A , CM000671.2:g.131522155T>A	GRCh38
NC_000009.11:g.134397542T>A , CM000671.1:g.134397542T>A	GRCh37
NC_000009.10:g.133387363T>A	NCBI36
NG_008896.1:g.24254T>A
NG_008896.2:g.24254T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1772T>A	ENSP00000343034.7:p.Leu591Gln
ENST00000404875.7:n.2474T>A
ENST00000423007.6:c.1991T>A	ENSP00000404119.2:p.Leu664Gln
ENST00000677295.2:c.*2278T>A	ENSP00000504346.2:n.*2278T>A
ENST00000678264.2:c.*2117T>A	ENSP00000503157.2:n.*2117T>A
ENST00000682070.1:n.2291-47T>A
ENST00000682813.1:n.2338T>A
ENST00000683392.1:n.4573-47T>A
ENST00000683712.1:n.2339T>A
ENST00000683900.1:n.3834T>A
ENST00000684062.1:n.2600T>A
ENST00000684579.1:n.3780T>A
ENST00000684679.1:n.1161T>A
ENST00000341012.12:c.1772T>A	ENSP00000343034.7:p.Leu591Gln
ENST00000372220.5:c.803T>A	ENSP00000361294.5:p.Leu268Gln
ENST00000372228.9:c.2000T>A	ENSP00000361302.3:p.Leu667Gln
ENST00000402686.8:c.1934T>A MANE Select	ENSP00000385797.4:p.Leu645Gln
ENST00000676640.1:c.1934T>A	ENSP00000503281.1:p.Leu645Gln
ENST00000676803.1:c.995T>A	ENSP00000503093.1:p.Leu332Gln
ENST00000676835.1:c.*1149T>A	ENSP00000502911.1:n.*1149T>A
ENST00000677029.1:c.1478T>A	ENSP00000502936.1:p.Leu493Gln
ENST00000677099.1:c.*1644T>A	ENSP00000504553.1:n.*1644T>A
ENST00000677216.1:c.1583T>A	ENSP00000503772.1:p.Leu528Gln
ENST00000677221.1:n.959T>A
ENST00000677295.1:c.*1203-47T>A	ENSP00000504346.1:n.*1203-47T>A
ENST00000677444.1:c.1879T>A
ENST00000677586.1:n.1301T>A
ENST00000677626.1:c.1583T>A	ENSP00000503552.1:p.Leu528Gln
ENST00000677853.1:c.*942T>A	ENSP00000503488.1:n.*942T>A
ENST00000678202.1:n.1093T>A
ENST00000678264.1:c.*1311T>A	ENSP00000503157.1:n.*1311T>A
ENST00000678303.1:c.1844T>A	ENSP00000503696.1:p.Leu615Gln
ENST00000678366.1:c.*2183T>A	ENSP00000504353.1:n.*2183T>A
ENST00000678546.1:c.*1879T>A	ENSP00000503062.1:n.*1879T>A
ENST00000678548.1:c.*2073T>A	ENSP00000503934.1:n.*2073T>A
ENST00000678626.1:n.1770T>A
ENST00000678739.1:c.*2147-47T>A	ENSP00000503806.1:n.*2147-47T>A
ENST00000678833.1:c.*1686T>A	ENSP00000503893.1:n.*1686T>A
ENST00000679023.1:c.1772T>A	ENSP00000503718.1:p.Leu591Gln
ENST00000679076.1:c.1553T>A
ENST00000679111.1:c.*690T>A	ENSP00000504257.1:n.*690T>A
ENST00000679189.1:c.1583T>A	ENSP00000503356.1:p.Leu528Gln
ENST00000341012.11:c.1772T>A	ENSP00000343034.7:p.Leu591Gln
ENST00000372220.4:c.797T>A	ENSP00000361294.4:p.Leu266Gln
ENST00000372228.7:c.2000T>A	ENSP00000361302.3:p.Leu667Gln
ENST00000402686.7:c.1934T>A	ENSP00000385797.3:p.Leu645Gln
ENST00000404875.6:c.1583T>A	ENSP00000384531.2:p.Leu528Gln
ENST00000423007.5:c.1934T>A	ENSP00000404119.1:p.Leu645Gln
ENST00000485278.5:n.2484T>A
ENST00000494883.1:n.477T>A
NM_001077365.1:c.1934T>A	NP_001070833.1:p.Leu645Gln
NM_001077366.1:c.1772T>A	NP_001070834.1:p.Leu591Gln
NM_001136113.1:c.1934T>A	NP_001129585.1:p.Leu645Gln
NM_001136114.1:c.1583T>A	NP_001129586.1:p.Leu528Gln
NM_007171.3:c.2000T>A	NP_009102.3:p.Leu667Gln
XM_005272156.1:c.2000T>A	XP_005272213.1:p.Leu667Gln
XM_005272158.1:c.1838T>A	XP_005272215.1:p.Leu613Gln
XM_005272159.1:c.1649T>A	XP_005272216.1:p.Leu550Gln
XM_005272162.1:c.803T>A	XP_005272219.1:p.Leu268Gln
XM_006716932.1:c.1649T>A	XP_006716995.1:p.Leu550Gln
XM_011518140.1:c.1853T>A	XP_011516442.1:p.Leu618Gln
XM_011518141.1:c.1787T>A	XP_011516443.1:p.Leu596Gln
XM_011518142.1:c.1691T>A	XP_011516444.1:p.Leu564Gln
XM_011518143.1:c.1685T>A	XP_011516445.1:p.Leu562Gln
XM_011518145.1:c.1544T>A	XP_011516447.1:p.Leu515Gln
XM_011518147.1:c.872T>A	XP_011516449.1:p.Leu291Gln
XR_929703.1:n.2176T>A
NM_001353193.1:c.2000T>A	NP_001340122.1:p.Leu667Gln
NM_001353194.1:c.1772T>A	NP_001340123.1:p.Leu591Gln
NM_001353195.1:c.1583T>A	NP_001340124.1:p.Leu528Gln
NM_001353196.1:c.1844T>A	NP_001340125.1:p.Leu615Gln
NM_001353197.1:c.1838T>A	NP_001340126.1:p.Leu613Gln
NM_001353198.1:c.1838T>A	NP_001340127.1:p.Leu613Gln
NM_001353199.1:c.1649T>A	NP_001340128.1:p.Leu550Gln
NM_001353200.1:c.1478T>A	NP_001340129.1:p.Leu493Gln
NR_148391.1:n.1984T>A
NR_148392.1:n.2202T>A
NR_148393.1:n.2123T>A
NR_148394.1:n.1877T>A
NR_148395.1:n.2275T>A
NR_148396.1:n.1909T>A
NR_148397.1:n.2034T>A
NR_148398.1:n.1989T>A
NR_148399.1:n.2515T>A
NR_148400.1:n.2114T>A
XM_005272162.3:c.803T>A	XP_005272219.1:p.Leu268Gln
XM_006716932.2:c.1649T>A	XP_006716995.1:p.Leu550Gln
XM_011518140.2:c.1853T>A	XP_011516442.1:p.Leu618Gln
XM_011518141.2:c.1787T>A	XP_011516443.1:p.Leu596Gln
XM_011518142.2:c.1691T>A	XP_011516444.1:p.Leu564Gln
XM_011518143.2:c.1685T>A	XP_011516445.1:p.Leu562Gln
XM_011518145.2:c.1544T>A	XP_011516447.1:p.Leu515Gln
XM_017014205.2:c.803T>A	XP_016869694.1:p.Leu268Gln
XM_024447380.1:c.803T>A	XP_024303148.1:p.Leu268Gln
XM_024447381.1:c.1109T>A	XP_024303149.1:p.Leu370Gln
XM_024447382.1:c.803T>A	XP_024303150.1:p.Leu268Gln
XR_001746160.2:n.2104T>A
XR_001746162.2:n.2309T>A
XR_001746164.1:n.2026T>A
XR_001746166.2:n.2321T>A
NM_001077365.2:c.1934T>A MANE Select	NP_001070833.1:p.Leu645Gln
NM_001077366.2:c.1772T>A	NP_001070834.1:p.Leu591Gln
NM_001136113.2:c.1934T>A	NP_001129585.1:p.Leu645Gln
NM_001136114.2:c.1583T>A	NP_001129586.1:p.Leu528Gln
NM_001353193.2:c.2000T>A	NP_001340122.2:p.Leu667Gln
NM_001353194.2:c.1772T>A	NP_001340123.1:p.Leu591Gln
NM_001353195.2:c.1583T>A	NP_001340124.1:p.Leu528Gln
NM_001353196.2:c.1844T>A	NP_001340125.1:p.Leu615Gln
NM_001353197.2:c.1838T>A	NP_001340126.2:p.Leu613Gln
NM_001353198.2:c.1838T>A	NP_001340127.2:p.Leu613Gln
NM_001353199.2:c.1649T>A	NP_001340128.2:p.Leu550Gln
NM_001353200.2:c.1478T>A	NP_001340129.1:p.Leu493Gln
NM_001374689.1:c.1922T>A	NP_001361618.1:p.Leu641Gln
NM_001374690.1:c.1715T>A	NP_001361619.1:p.Leu572Gln
NM_001374691.1:c.1583T>A	NP_001361620.1:p.Leu528Gln
NM_001374692.1:c.1583T>A	NP_001361621.1:p.Leu528Gln
NM_001374693.1:c.1583T>A	NP_001361622.1:p.Leu528Gln
NM_001374695.1:c.1544T>A	NP_001361624.1:p.Leu515Gln
NM_007171.4:c.2000T>A	NP_009102.4:p.Leu667Gln
NR_148391.2:n.1968T>A
NR_148392.2:n.2186T>A
NR_148393.2:n.2107T>A
NR_148394.2:n.1861T>A
NR_148395.2:n.2259T>A
NR_148396.2:n.1893T>A
NR_148397.2:n.2018T>A
NR_148398.2:n.1973T>A
NR_148399.2:n.2499T>A
NR_148400.2:n.2098T>A

Linked Data

Genomic Alleles

Transcript Alleles