Canonical Allele Identifier: CA351718599

Gene: PRRT3 CRELD1

Linked Data

• MyVariant Identifiers: chr3:g.9982581G>T (hg19) ; chr3:g.9940897G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9940897G>T , CM000665.2:g.9940897G>T	GRCh38
NC_000003.11:g.9982581G>T , CM000665.1:g.9982581G>T	GRCh37
NC_000003.10:g.9957581G>T	NCBI36
NG_017069.1:g.12057G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696835.1:c.*1156G>T	ENSP00000512913.1:n.*1156G>T
ENST00000696836.1:c.*1156G>T	ENSP00000512914.1:n.*1156G>T
ENST00000696837.1:c.*1985G>T	ENSP00000512915.1:n.*1985G>T
ENST00000696838.1:c.*1156G>T	ENSP00000512916.1:n.*1156G>T
ENST00000696839.1:c.*1156G>T	ENSP00000512917.1:n.*1156G>T
ENST00000707135.1:n.1221-263C>A (PRRT3)
ENST00000707136.1:n.1826-269C>A (PRRT3)
ENST00000397170.8:c.508G>T (CRELD1)	ENSP00000380355.4:p.Glu170Ter
ENST00000414117.6:c.397G>T (CRELD1)	ENSP00000411021.2:p.Glu133Ter
ENST00000467713.6:n.614G>T (CRELD1)
ENST00000489674.6:n.84G>T (CRELD1)
ENST00000673635.2:c.*174G>T (CRELD1)	ENSP00000501186.2:n.*174G>T
ENST00000673677.2:c.508G>T (CRELD1)	ENSP00000500985.2:p.Glu170Ter
ENST00000673737.2:c.508G>T (CRELD1)	ENSP00000501208.1:p.Glu170Ter
ENST00000673935.2:c.508G>T (CRELD1)	ENSP00000500961.2:p.Glu170Ter
ENST00000674067.2:c.*90G>T (CRELD1)	ENSP00000501009.2:n.*90G>T
ENST00000681970.1:n.1174G>T
ENST00000682120.1:n.610G>T (CRELD1)
ENST00000682122.1:c.*156G>T	ENSP00000507036.1:n.*156G>T
ENST00000682200.1:c.416G>T (CRELD1)	ENSP00000508321.1:p.Ter139Leu
ENST00000682318.1:c.305G>T (CRELD1)	ENSP00000507946.1:p.Ter102Leu
ENST00000682397.1:c.305G>T (CRELD1)	ENSP00000507177.1:p.Ter102Leu
ENST00000682403.1:c.305G>T (CRELD1)	ENSP00000507865.1:p.Ter102Leu
ENST00000682570.1:c.508G>T (CRELD1)	ENSP00000507973.1:p.Glu170Ter
ENST00000682642.1:c.508G>T (CRELD1)	ENSP00000507251.1:p.Glu170Ter
ENST00000682771.1:c.508G>T (CRELD1)	ENSP00000507114.1:p.Glu170Ter
ENST00000682783.1:c.508G>T (CRELD1)	ENSP00000508358.1:p.Glu170Ter
ENST00000682790.1:c.*82G>T (CRELD1)	ENSP00000507904.1:n.*82G>T
ENST00000682798.1:n.1113G>T (CRELD1)
ENST00000682866.1:n.527G>T (CRELD1)
ENST00000682884.1:n.1002G>T (CRELD1)
ENST00000682906.1:c.305G>T (CRELD1)	ENSP00000507674.1:p.Ter102Leu
ENST00000682907.1:c.508G>T (CRELD1)	ENSP00000508209.1:p.Glu170Ter
ENST00000682929.1:c.508G>T (CRELD1)	ENSP00000507930.1:p.Glu170Ter
ENST00000682967.1:n.693G>T (CRELD1)
ENST00000683061.1:n.2091G>T
ENST00000683083.1:n.616G>T (CRELD1)
ENST00000683127.1:c.508G>T (CRELD1)	ENSP00000506906.1:p.Glu170Ter
ENST00000683189.1:c.508G>T (CRELD1)	ENSP00000508018.1:p.Glu170Ter
ENST00000683232.1:c.305G>T (CRELD1)	ENSP00000506842.1:p.Ter102Leu
ENST00000683239.1:n.638G>T (CRELD1)
ENST00000683279.1:n.587G>T (CRELD1)
ENST00000683301.1:c.305G>T (CRELD1)	ENSP00000507718.1:p.Ter102Leu
ENST00000683316.1:c.508G>T (CRELD1)	ENSP00000507076.1:p.Glu170Ter
ENST00000683388.1:n.2612G>T (CRELD1)
ENST00000683467.1:n.730G>T (CRELD1)
ENST00000683484.1:c.*156G>T	ENSP00000507040.1:n.*156G>T
ENST00000683547.1:c.508G>T (CRELD1)	ENSP00000507258.1:p.Glu170Ter
ENST00000683601.1:c.508G>T (CRELD1)	ENSP00000507737.1:p.Glu170Ter
ENST00000683603.1:c.508G>T (CRELD1)	ENSP00000508016.1:p.Glu170Ter
ENST00000683736.1:c.350-214G>T (CRELD1)	ENSP00000507761.1:n.350-214G>T
ENST00000683835.1:c.508G>T (CRELD1)	ENSP00000508148.1:p.Glu170Ter
ENST00000683849.1:c.305G>T (CRELD1)	ENSP00000506901.1:p.Ter102Leu
ENST00000683888.1:n.1113G>T (CRELD1)
ENST00000683891.1:c.416G>T (CRELD1)	ENSP00000506972.1:p.Ter139Leu
ENST00000683921.1:c.*562G>T (CRELD1)	ENSP00000507395.1:n.*562G>T
ENST00000683970.1:c.508G>T (CRELD1)	ENSP00000507906.1:p.Glu170Ter
ENST00000683982.1:c.508G>T (CRELD1)	ENSP00000507437.1:p.Glu170Ter
ENST00000684181.1:c.508G>T (CRELD1)	ENSP00000507522.1:p.Glu170Ter
ENST00000684212.1:c.508G>T (CRELD1)	ENSP00000507565.1:p.Glu170Ter
ENST00000684243.1:c.*174G>T (CRELD1)	ENSP00000506959.1:n.*174G>T
ENST00000684291.1:c.508G>T (CRELD1)	ENSP00000506927.1:p.Glu170Ter
ENST00000684318.1:c.508G>T (CRELD1)	ENSP00000508180.1:p.Glu170Ter
ENST00000684419.1:n.1090G>T (CRELD1)
ENST00000684493.1:c.508G>T (CRELD1)	ENSP00000507127.1:p.Glu170Ter
ENST00000684526.1:c.416G>T (CRELD1)	ENSP00000508163.1:p.Ter139Leu
ENST00000684532.1:c.508G>T (CRELD1)	ENSP00000508212.1:p.Glu170Ter
ENST00000684601.1:c.508G>T (CRELD1)	ENSP00000507886.1:p.Glu170Ter
ENST00000684613.1:c.508G>T (CRELD1)	ENSP00000508218.1:p.Glu170Ter
ENST00000684629.1:c.305G>T (CRELD1)	ENSP00000506879.1:p.Ter102Leu
ENST00000684648.1:c.416G>T (CRELD1)	ENSP00000507931.1:p.Ter139Leu
ENST00000383811.8:c.508G>T (CRELD1)	ENSP00000373322.3:p.Glu170Ter
ENST00000452070.6:c.508G>T (CRELD1) MANE Select	ENSP00000393643.2:p.Glu170Ter
ENST00000673635.1:c.363G>T (CRELD1)	ENSP00000501186.1:n.363G>T
ENST00000673677.1:c.778G>T	ENSP00000500985.1:n.778G>T
ENST00000673737.1:c.508G>T (CRELD1)	ENSP00000501208.1:p.Glu170Ter
ENST00000673935.1:c.35G>T (CRELD1)
ENST00000674057.1:c.*174G>T (CRELD1)	ENSP00000501128.1:n.*174G>T
ENST00000674067.1:c.273G>T	ENSP00000501009.1:n.273G>T
ENST00000326434.9:c.508G>T (CRELD1)	ENSP00000321856.5:p.Glu170Ter
ENST00000383811.7:c.508G>T (CRELD1)	ENSP00000373322.3:p.Glu170Ter
ENST00000397170.7:c.508G>T (CRELD1)	ENSP00000380355.3:p.Glu170Ter
ENST00000414117.5:c.305G>T (CRELD1)	ENSP00000411021.1:p.Ter102Leu
ENST00000452070.5:c.508G>T (CRELD1)	ENSP00000393643.1:p.Glu170Ter
NM_001031717.3:c.508G>T (CRELD1)	NP_001026887.1:p.Glu170Ter
NM_001077415.2:c.508G>T (CRELD1)	NP_001070883.1:p.Glu170Ter
NM_015513.4:c.508G>T (CRELD1)	NP_056328.2:p.Glu170Ter
XM_011534108.1:c.508G>T (CRELD1)	XP_011532410.1:p.Glu170Ter
XR_002959584.1:n.592G>T (CRELD1)
NM_001031717.4:c.508G>T (CRELD1)	NP_001026887.2:p.Glu170Ter
NM_001077415.3:c.508G>T (CRELD1) MANE Select	NP_001070883.2:p.Glu170Ter
NM_001374316.1:c.508G>T (CRELD1)	NP_001361245.1:p.Glu170Ter
NM_001374317.1:c.508G>T (CRELD1)	NP_001361246.1:p.Glu170Ter
NM_001374318.1:c.508G>T (CRELD1)	NP_001361247.1:p.Glu170Ter
NM_001374319.1:c.508G>T (CRELD1)	NP_001361248.1:p.Glu170Ter
NM_001374320.1:c.508G>T (CRELD1)	NP_001361249.1:p.Glu170Ter
NM_015513.6:c.508G>T (CRELD1)	NP_056328.3:p.Glu170Ter
NR_164475.1:n.546G>T (CRELD1)
NR_164476.1:n.522G>T (CRELD1)
NR_164477.1:n.896G>T (CRELD1)