Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9937576T>A , CM000665.2:g.9937576T>A	GRCh38
NC_000003.11:g.9979260T>A , CM000665.1:g.9979260T>A	GRCh37
NC_000003.10:g.9954260T>A	NCBI36
NG_017069.1:g.8736T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696835.1:c.*920T>A	ENSP00000512913.1:n.*920T>A
ENST00000696836.1:c.*920T>A	ENSP00000512914.1:n.*920T>A
ENST00000696837.1:c.*1749T>A	ENSP00000512915.1:n.*1749T>A
ENST00000696838.1:c.*920T>A	ENSP00000512916.1:n.*920T>A
ENST00000696839.1:c.*920T>A	ENSP00000512917.1:n.*920T>A
ENST00000397170.8:c.272T>A	ENSP00000380355.4:p.Val91Glu
ENST00000414117.6:c.258-439T>A	ENSP00000411021.2:n.258-439T>A
ENST00000465716.2:n.872T>A
ENST00000467713.6:n.378T>A
ENST00000673635.2:c.272T>A	ENSP00000501186.2:p.Val91Glu
ENST00000673677.2:c.272T>A	ENSP00000500985.2:p.Val91Glu
ENST00000673737.2:c.272T>A	ENSP00000501208.1:p.Val91Glu
ENST00000673935.2:c.272T>A	ENSP00000500961.2:p.Val91Glu
ENST00000674067.2:c.272T>A	ENSP00000501009.2:p.Val91Glu
ENST00000681970.1:n.938T>A
ENST00000682120.1:n.374T>A
ENST00000682122.1:c.*12T>A	ENSP00000507036.1:n.*12T>A
ENST00000682200.1:c.272T>A	ENSP00000508321.1:p.Val91Glu
ENST00000682318.1:c.257+2659T>A	ENSP00000507946.1:n.257+2659T>A
ENST00000682355.1:n.353T>A
ENST00000682397.1:c.257+2659T>A	ENSP00000507177.1:n.257+2659T>A
ENST00000682403.1:c.257+2659T>A	ENSP00000507865.1:n.257+2659T>A
ENST00000682570.1:c.272T>A	ENSP00000507973.1:p.Val91Glu
ENST00000682642.1:c.272T>A	ENSP00000507251.1:p.Val91Glu
ENST00000682771.1:c.272T>A	ENSP00000507114.1:p.Val91Glu
ENST00000682783.1:c.272T>A	ENSP00000508358.1:p.Val91Glu
ENST00000682790.1:c.272T>A	ENSP00000507904.1:p.Val91Glu
ENST00000682798.1:n.877T>A
ENST00000682866.1:n.291T>A
ENST00000682884.1:n.766T>A
ENST00000682906.1:c.257+2659T>A	ENSP00000507674.1:n.257+2659T>A
ENST00000682907.1:c.272T>A	ENSP00000508209.1:p.Val91Glu
ENST00000682929.1:c.272T>A	ENSP00000507930.1:p.Val91Glu
ENST00000683061.1:n.1947T>A
ENST00000683083.1:n.380T>A
ENST00000683122.1:n.291T>A
ENST00000683127.1:c.272T>A	ENSP00000506906.1:p.Val91Glu
ENST00000683189.1:c.272T>A	ENSP00000508018.1:p.Val91Glu
ENST00000683232.1:c.257+2659T>A	ENSP00000506842.1:n.257+2659T>A
ENST00000683239.1:n.402T>A
ENST00000683279.1:n.351T>A
ENST00000683301.1:c.257+2659T>A	ENSP00000507718.1:n.257+2659T>A
ENST00000683316.1:c.272T>A	ENSP00000507076.1:p.Val91Glu
ENST00000683484.1:c.*12T>A	ENSP00000507040.1:n.*12T>A
ENST00000683507.1:n.635T>A
ENST00000683547.1:c.272T>A	ENSP00000507258.1:p.Val91Glu
ENST00000683601.1:c.272T>A	ENSP00000507737.1:p.Val91Glu
ENST00000683603.1:c.272T>A	ENSP00000508016.1:p.Val91Glu
ENST00000683736.1:c.258-439T>A	ENSP00000507761.1:n.258-439T>A
ENST00000683835.1:c.272T>A	ENSP00000508148.1:p.Val91Glu
ENST00000683849.1:c.257+2659T>A	ENSP00000506901.1:n.257+2659T>A
ENST00000683888.1:n.877T>A
ENST00000683891.1:c.272T>A	ENSP00000506972.1:p.Val91Glu
ENST00000683921.1:c.272T>A	ENSP00000507395.1:p.Val91Glu
ENST00000683970.1:c.272T>A	ENSP00000507906.1:p.Val91Glu
ENST00000683982.1:c.272T>A	ENSP00000507437.1:p.Val91Glu
ENST00000684181.1:c.272T>A	ENSP00000507522.1:p.Val91Glu
ENST00000684212.1:c.272T>A	ENSP00000507565.1:p.Val91Glu
ENST00000684243.1:c.272T>A	ENSP00000506959.1:p.Val91Glu
ENST00000684291.1:c.272T>A	ENSP00000506927.1:p.Val91Glu
ENST00000684318.1:c.272T>A	ENSP00000508180.1:p.Val91Glu
ENST00000684493.1:c.272T>A	ENSP00000507127.1:p.Val91Glu
ENST00000684526.1:c.272T>A	ENSP00000508163.1:p.Val91Glu
ENST00000684532.1:c.272T>A	ENSP00000508212.1:p.Val91Glu
ENST00000684601.1:c.272T>A	ENSP00000507886.1:p.Val91Glu
ENST00000684613.1:c.272T>A	ENSP00000508218.1:p.Val91Glu
ENST00000684629.1:c.257+2659T>A	ENSP00000506879.1:n.257+2659T>A
ENST00000684648.1:c.272T>A	ENSP00000507931.1:p.Val91Glu
ENST00000383811.8:c.272T>A	ENSP00000373322.3:p.Val91Glu
ENST00000452070.6:c.272T>A MANE Select	ENSP00000393643.2:p.Val91Glu
ENST00000673635.1:c.89T>A	ENSP00000501186.1:p.Val30Glu
ENST00000673677.1:c.542T>A	ENSP00000500985.1:n.542T>A
ENST00000673737.1:c.272T>A	ENSP00000501208.1:p.Val91Glu
ENST00000674057.1:c.272T>A	ENSP00000501128.1:p.Val91Glu
ENST00000674067.1:c.129T>A	ENSP00000501009.1:n.129T>A
ENST00000326434.9:c.272T>A	ENSP00000321856.5:p.Val91Glu
ENST00000383811.7:c.272T>A	ENSP00000373322.3:p.Val91Glu
ENST00000397170.7:c.272T>A	ENSP00000380355.3:p.Val91Glu
ENST00000414117.5:c.257+2659T>A	ENSP00000411021.1:n.257+2659T>A
ENST00000452070.5:c.272T>A	ENSP00000393643.1:p.Val91Glu
ENST00000465716.1:n.228T>A
NM_001031717.3:c.272T>A	NP_001026887.1:p.Val91Glu
NM_001077415.2:c.272T>A	NP_001070883.1:p.Val91Glu
NM_015513.4:c.272T>A	NP_056328.2:p.Val91Glu
XM_011534108.1:c.272T>A	XP_011532410.1:p.Val91Glu
XR_002959584.1:n.356T>A
NM_001031717.4:c.272T>A	NP_001026887.2:p.Val91Glu
NM_001077415.3:c.272T>A MANE Select	NP_001070883.2:p.Val91Glu
NM_001374316.1:c.272T>A	NP_001361245.1:p.Val91Glu
NM_001374317.1:c.272T>A	NP_001361246.1:p.Val91Glu
NM_001374318.1:c.272T>A	NP_001361247.1:p.Val91Glu
NM_001374319.1:c.272T>A	NP_001361248.1:p.Val91Glu
NM_001374320.1:c.272T>A	NP_001361249.1:p.Val91Glu
NM_015513.6:c.272T>A	NP_056328.3:p.Val91Glu
NR_164475.1:n.310T>A
NR_164476.1:n.378T>A
NR_164477.1:n.660T>A

Linked Data

Genomic Alleles

Transcript Alleles