Canonical Allele Identifier: CA351718334
Gene: PRRT3 HGNC NCBI
CRELD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9940871G>A , CM000665.2:g.9940871G>A GRCh38
NC_000003.11:g.9982555G>A , CM000665.1:g.9982555G>A GRCh37
NC_000003.10:g.9957555G>A NCBI36
NG_017069.1:g.12031G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696835.1:c.*1130G>A ENSP00000512913.1:n.*1130G>A
ENST00000696836.1:c.*1130G>A ENSP00000512914.1:n.*1130G>A
ENST00000696837.1:c.*1959G>A ENSP00000512915.1:n.*1959G>A
ENST00000696838.1:c.*1130G>A ENSP00000512916.1:n.*1130G>A
ENST00000696839.1:c.*1130G>A ENSP00000512917.1:n.*1130G>A
ENST00000707135.1:n.1221-237C>T (PRRT3)
ENST00000707136.1:n.1826-243C>T (PRRT3)
ENST00000397170.8:c.482G>A (CRELD1) ENSP00000380355.4:p.Arg161Lys
ENST00000414117.6:c.371G>A (CRELD1) ENSP00000411021.2:p.Arg124Lys
ENST00000467713.6:n.588G>A (CRELD1)
ENST00000489674.6:n.58G>A (CRELD1)
ENST00000673635.2:c.*148G>A (CRELD1) ENSP00000501186.2:n.*148G>A
ENST00000673677.2:c.482G>A (CRELD1) ENSP00000500985.2:p.Arg161Lys
ENST00000673737.2:c.482G>A (CRELD1) ENSP00000501208.1:p.Arg161Lys
ENST00000673935.2:c.482G>A (CRELD1) ENSP00000500961.2:p.Arg161Lys
ENST00000674067.2:c.*64G>A (CRELD1) ENSP00000501009.2:n.*64G>A
ENST00000681970.1:n.1148G>A
ENST00000682120.1:n.584G>A (CRELD1)
ENST00000682122.1:c.*130G>A ENSP00000507036.1:n.*130G>A
ENST00000682200.1:c.390G>A (CRELD1) ENSP00000508321.1:p.Glu130=
ENST00000682318.1:c.279G>A (CRELD1) ENSP00000507946.1:p.Glu93=
ENST00000682397.1:c.279G>A (CRELD1) ENSP00000507177.1:p.Glu93=
ENST00000682403.1:c.279G>A (CRELD1) ENSP00000507865.1:p.Glu93=
ENST00000682570.1:c.482G>A (CRELD1) ENSP00000507973.1:p.Arg161Lys
ENST00000682642.1:c.482G>A (CRELD1) ENSP00000507251.1:p.Arg161Lys
ENST00000682771.1:c.482G>A (CRELD1) ENSP00000507114.1:p.Arg161Lys
ENST00000682783.1:c.482G>A (CRELD1) ENSP00000508358.1:p.Arg161Lys
ENST00000682790.1:c.*56G>A (CRELD1) ENSP00000507904.1:n.*56G>A
ENST00000682798.1:n.1087G>A (CRELD1)
ENST00000682866.1:n.501G>A (CRELD1)
ENST00000682884.1:n.976G>A (CRELD1)
ENST00000682906.1:c.279G>A (CRELD1) ENSP00000507674.1:p.Glu93=
ENST00000682907.1:c.482G>A (CRELD1) ENSP00000508209.1:p.Arg161Lys
ENST00000682929.1:c.482G>A (CRELD1) ENSP00000507930.1:p.Arg161Lys
ENST00000682967.1:n.667G>A (CRELD1)
ENST00000683061.1:n.2065G>A
ENST00000683083.1:n.590G>A (CRELD1)
ENST00000683127.1:c.482G>A (CRELD1) ENSP00000506906.1:p.Arg161Lys
ENST00000683189.1:c.482G>A (CRELD1) ENSP00000508018.1:p.Arg161Lys
ENST00000683232.1:c.279G>A (CRELD1) ENSP00000506842.1:p.Glu93=
ENST00000683239.1:n.612G>A (CRELD1)
ENST00000683279.1:n.561G>A (CRELD1)
ENST00000683301.1:c.279G>A (CRELD1) ENSP00000507718.1:p.Glu93=
ENST00000683316.1:c.482G>A (CRELD1) ENSP00000507076.1:p.Arg161Lys
ENST00000683388.1:n.2586G>A (CRELD1)
ENST00000683467.1:n.704G>A (CRELD1)
ENST00000683484.1:c.*130G>A ENSP00000507040.1:n.*130G>A
ENST00000683547.1:c.482G>A (CRELD1) ENSP00000507258.1:p.Arg161Lys
ENST00000683601.1:c.482G>A (CRELD1) ENSP00000507737.1:p.Arg161Lys
ENST00000683603.1:c.482G>A (CRELD1) ENSP00000508016.1:p.Arg161Lys
ENST00000683736.1:c.350-240G>A (CRELD1) ENSP00000507761.1:n.350-240G>A
ENST00000683835.1:c.482G>A (CRELD1) ENSP00000508148.1:p.Arg161Lys
ENST00000683849.1:c.279G>A (CRELD1) ENSP00000506901.1:p.Glu93=
ENST00000683888.1:n.1087G>A (CRELD1)
ENST00000683891.1:c.390G>A (CRELD1) ENSP00000506972.1:p.Glu130=
ENST00000683921.1:c.*536G>A (CRELD1) ENSP00000507395.1:n.*536G>A
ENST00000683970.1:c.482G>A (CRELD1) ENSP00000507906.1:p.Arg161Lys
ENST00000683982.1:c.482G>A (CRELD1) ENSP00000507437.1:p.Arg161Lys
ENST00000684181.1:c.482G>A (CRELD1) ENSP00000507522.1:p.Arg161Lys
ENST00000684212.1:c.482G>A (CRELD1) ENSP00000507565.1:p.Arg161Lys
ENST00000684243.1:c.*148G>A (CRELD1) ENSP00000506959.1:n.*148G>A
ENST00000684291.1:c.482G>A (CRELD1) ENSP00000506927.1:p.Arg161Lys
ENST00000684318.1:c.482G>A (CRELD1) ENSP00000508180.1:p.Arg161Lys
ENST00000684419.1:n.1064G>A (CRELD1)
ENST00000684493.1:c.482G>A (CRELD1) ENSP00000507127.1:p.Arg161Lys
ENST00000684526.1:c.390G>A (CRELD1) ENSP00000508163.1:p.Glu130=
ENST00000684532.1:c.482G>A (CRELD1) ENSP00000508212.1:p.Arg161Lys
ENST00000684601.1:c.482G>A (CRELD1) ENSP00000507886.1:p.Arg161Lys
ENST00000684613.1:c.482G>A (CRELD1) ENSP00000508218.1:p.Arg161Lys
ENST00000684629.1:c.279G>A (CRELD1) ENSP00000506879.1:p.Glu93=
ENST00000684648.1:c.390G>A (CRELD1) ENSP00000507931.1:p.Glu130=
ENST00000383811.8:c.482G>A (CRELD1) ENSP00000373322.3:p.Arg161Lys
ENST00000452070.6:c.482G>A (CRELD1) MANE Select ENSP00000393643.2:p.Arg161Lys
ENST00000673635.1:c.337G>A (CRELD1) ENSP00000501186.1:n.337G>A
ENST00000673677.1:c.752G>A ENSP00000500985.1:n.752G>A
ENST00000673737.1:c.482G>A (CRELD1) ENSP00000501208.1:p.Arg161Lys
ENST00000673935.1:c.9G>A (CRELD1)
ENST00000674057.1:c.*148G>A (CRELD1) ENSP00000501128.1:n.*148G>A
ENST00000674067.1:c.247G>A ENSP00000501009.1:n.247G>A
ENST00000326434.9:c.482G>A (CRELD1) ENSP00000321856.5:p.Arg161Lys
ENST00000383811.7:c.482G>A (CRELD1) ENSP00000373322.3:p.Arg161Lys
ENST00000397170.7:c.482G>A (CRELD1) ENSP00000380355.3:p.Arg161Lys
ENST00000414117.5:c.279G>A (CRELD1) ENSP00000411021.1:p.Glu93=
ENST00000452070.5:c.482G>A (CRELD1) ENSP00000393643.1:p.Arg161Lys
NM_001031717.3:c.482G>A (CRELD1) NP_001026887.1:p.Arg161Lys
NM_001077415.2:c.482G>A (CRELD1) NP_001070883.1:p.Arg161Lys
NM_015513.4:c.482G>A (CRELD1) NP_056328.2:p.Arg161Lys
XM_011534108.1:c.482G>A (CRELD1) XP_011532410.1:p.Arg161Lys
XR_002959584.1:n.566G>A (CRELD1)
NM_001031717.4:c.482G>A (CRELD1) NP_001026887.2:p.Arg161Lys
NM_001077415.3:c.482G>A (CRELD1) MANE Select NP_001070883.2:p.Arg161Lys
NM_001374316.1:c.482G>A (CRELD1) NP_001361245.1:p.Arg161Lys
NM_001374317.1:c.482G>A (CRELD1) NP_001361246.1:p.Arg161Lys
NM_001374318.1:c.482G>A (CRELD1) NP_001361247.1:p.Arg161Lys
NM_001374319.1:c.482G>A (CRELD1) NP_001361248.1:p.Arg161Lys
NM_001374320.1:c.482G>A (CRELD1) NP_001361249.1:p.Arg161Lys
NM_015513.6:c.482G>A (CRELD1) NP_056328.3:p.Arg161Lys
NR_164475.1:n.520G>A (CRELD1)
NR_164476.1:n.496G>A (CRELD1)
NR_164477.1:n.870G>A (CRELD1)