Canonical Allele Identifier: CA351718503

Gene: PRRT3 CRELD1

Linked Data

• dbSNP Id: rs2085347238
• MyVariant Identifiers: chr3:g.9982570A>G (hg19) ; chr3:g.9940886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9940886A>G , CM000665.2:g.9940886A>G	GRCh38
NC_000003.11:g.9982570A>G , CM000665.1:g.9982570A>G	GRCh37
NC_000003.10:g.9957570A>G	NCBI36
NG_017069.1:g.12046A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696835.1:c.*1145A>G	ENSP00000512913.1:n.*1145A>G
ENST00000696836.1:c.*1145A>G	ENSP00000512914.1:n.*1145A>G
ENST00000696837.1:c.*1974A>G	ENSP00000512915.1:n.*1974A>G
ENST00000696838.1:c.*1145A>G	ENSP00000512916.1:n.*1145A>G
ENST00000696839.1:c.*1145A>G	ENSP00000512917.1:n.*1145A>G
ENST00000707135.1:n.1221-252T>C (PRRT3)
ENST00000707136.1:n.1826-258T>C (PRRT3)
ENST00000397170.8:c.497A>G (CRELD1)	ENSP00000380355.4:p.Tyr166Cys
ENST00000414117.6:c.386A>G (CRELD1)	ENSP00000411021.2:p.Tyr129Cys
ENST00000467713.6:n.603A>G (CRELD1)
ENST00000489674.6:n.73A>G (CRELD1)
ENST00000673635.2:c.*163A>G (CRELD1)	ENSP00000501186.2:n.*163A>G
ENST00000673677.2:c.497A>G (CRELD1)	ENSP00000500985.2:p.Tyr166Cys
ENST00000673737.2:c.497A>G (CRELD1)	ENSP00000501208.1:p.Tyr166Cys
ENST00000673935.2:c.497A>G (CRELD1)	ENSP00000500961.2:p.Tyr166Cys
ENST00000674067.2:c.*79A>G (CRELD1)	ENSP00000501009.2:n.*79A>G
ENST00000681970.1:n.1163A>G
ENST00000682120.1:n.599A>G (CRELD1)
ENST00000682122.1:c.*145A>G	ENSP00000507036.1:n.*145A>G
ENST00000682200.1:c.405A>G (CRELD1)	ENSP00000508321.1:p.Leu135=
ENST00000682318.1:c.294A>G (CRELD1)	ENSP00000507946.1:p.Leu98=
ENST00000682397.1:c.294A>G (CRELD1)	ENSP00000507177.1:p.Leu98=
ENST00000682403.1:c.294A>G (CRELD1)	ENSP00000507865.1:p.Leu98=
ENST00000682570.1:c.497A>G (CRELD1)	ENSP00000507973.1:p.Tyr166Cys
ENST00000682642.1:c.497A>G (CRELD1)	ENSP00000507251.1:p.Tyr166Cys
ENST00000682771.1:c.497A>G (CRELD1)	ENSP00000507114.1:p.Tyr166Cys
ENST00000682783.1:c.497A>G (CRELD1)	ENSP00000508358.1:p.Tyr166Cys
ENST00000682790.1:c.*71A>G (CRELD1)	ENSP00000507904.1:n.*71A>G
ENST00000682798.1:n.1102A>G (CRELD1)
ENST00000682866.1:n.516A>G (CRELD1)
ENST00000682884.1:n.991A>G (CRELD1)
ENST00000682906.1:c.294A>G (CRELD1)	ENSP00000507674.1:p.Leu98=
ENST00000682907.1:c.497A>G (CRELD1)	ENSP00000508209.1:p.Tyr166Cys
ENST00000682929.1:c.497A>G (CRELD1)	ENSP00000507930.1:p.Tyr166Cys
ENST00000682967.1:n.682A>G (CRELD1)
ENST00000683061.1:n.2080A>G
ENST00000683083.1:n.605A>G (CRELD1)
ENST00000683127.1:c.497A>G (CRELD1)	ENSP00000506906.1:p.Tyr166Cys
ENST00000683189.1:c.497A>G (CRELD1)	ENSP00000508018.1:p.Tyr166Cys
ENST00000683232.1:c.294A>G (CRELD1)	ENSP00000506842.1:p.Leu98=
ENST00000683239.1:n.627A>G (CRELD1)
ENST00000683279.1:n.576A>G (CRELD1)
ENST00000683301.1:c.294A>G (CRELD1)	ENSP00000507718.1:p.Leu98=
ENST00000683316.1:c.497A>G (CRELD1)	ENSP00000507076.1:p.Tyr166Cys
ENST00000683388.1:n.2601A>G (CRELD1)
ENST00000683467.1:n.719A>G (CRELD1)
ENST00000683484.1:c.*145A>G	ENSP00000507040.1:n.*145A>G
ENST00000683547.1:c.497A>G (CRELD1)	ENSP00000507258.1:p.Tyr166Cys
ENST00000683601.1:c.497A>G (CRELD1)	ENSP00000507737.1:p.Tyr166Cys
ENST00000683603.1:c.497A>G (CRELD1)	ENSP00000508016.1:p.Tyr166Cys
ENST00000683736.1:c.350-225A>G (CRELD1)	ENSP00000507761.1:n.350-225A>G
ENST00000683835.1:c.497A>G (CRELD1)	ENSP00000508148.1:p.Tyr166Cys
ENST00000683849.1:c.294A>G (CRELD1)	ENSP00000506901.1:p.Leu98=
ENST00000683888.1:n.1102A>G (CRELD1)
ENST00000683891.1:c.405A>G (CRELD1)	ENSP00000506972.1:p.Leu135=
ENST00000683921.1:c.*551A>G (CRELD1)	ENSP00000507395.1:n.*551A>G
ENST00000683970.1:c.497A>G (CRELD1)	ENSP00000507906.1:p.Tyr166Cys
ENST00000683982.1:c.497A>G (CRELD1)	ENSP00000507437.1:p.Tyr166Cys
ENST00000684181.1:c.497A>G (CRELD1)	ENSP00000507522.1:p.Tyr166Cys
ENST00000684212.1:c.497A>G (CRELD1)	ENSP00000507565.1:p.Tyr166Cys
ENST00000684243.1:c.*163A>G (CRELD1)	ENSP00000506959.1:n.*163A>G
ENST00000684291.1:c.497A>G (CRELD1)	ENSP00000506927.1:p.Tyr166Cys
ENST00000684318.1:c.497A>G (CRELD1)	ENSP00000508180.1:p.Tyr166Cys
ENST00000684419.1:n.1079A>G (CRELD1)
ENST00000684493.1:c.497A>G (CRELD1)	ENSP00000507127.1:p.Tyr166Cys
ENST00000684526.1:c.405A>G (CRELD1)	ENSP00000508163.1:p.Leu135=
ENST00000684532.1:c.497A>G (CRELD1)	ENSP00000508212.1:p.Tyr166Cys
ENST00000684601.1:c.497A>G (CRELD1)	ENSP00000507886.1:p.Tyr166Cys
ENST00000684613.1:c.497A>G (CRELD1)	ENSP00000508218.1:p.Tyr166Cys
ENST00000684629.1:c.294A>G (CRELD1)	ENSP00000506879.1:p.Leu98=
ENST00000684648.1:c.405A>G (CRELD1)	ENSP00000507931.1:p.Leu135=
ENST00000383811.8:c.497A>G (CRELD1)	ENSP00000373322.3:p.Tyr166Cys
ENST00000452070.6:c.497A>G (CRELD1) MANE Select	ENSP00000393643.2:p.Tyr166Cys
ENST00000673635.1:c.352A>G (CRELD1)	ENSP00000501186.1:n.352A>G
ENST00000673677.1:c.767A>G	ENSP00000500985.1:n.767A>G
ENST00000673737.1:c.497A>G (CRELD1)	ENSP00000501208.1:p.Tyr166Cys
ENST00000673935.1:c.24A>G (CRELD1)
ENST00000674057.1:c.*163A>G (CRELD1)	ENSP00000501128.1:n.*163A>G
ENST00000674067.1:c.262A>G	ENSP00000501009.1:n.262A>G
ENST00000326434.9:c.497A>G (CRELD1)	ENSP00000321856.5:p.Tyr166Cys
ENST00000383811.7:c.497A>G (CRELD1)	ENSP00000373322.3:p.Tyr166Cys
ENST00000397170.7:c.497A>G (CRELD1)	ENSP00000380355.3:p.Tyr166Cys
ENST00000414117.5:c.294A>G (CRELD1)	ENSP00000411021.1:p.Leu98=
ENST00000452070.5:c.497A>G (CRELD1)	ENSP00000393643.1:p.Tyr166Cys
NM_001031717.3:c.497A>G (CRELD1)	NP_001026887.1:p.Tyr166Cys
NM_001077415.2:c.497A>G (CRELD1)	NP_001070883.1:p.Tyr166Cys
NM_015513.4:c.497A>G (CRELD1)	NP_056328.2:p.Tyr166Cys
XM_011534108.1:c.497A>G (CRELD1)	XP_011532410.1:p.Tyr166Cys
XR_002959584.1:n.581A>G (CRELD1)
NM_001031717.4:c.497A>G (CRELD1)	NP_001026887.2:p.Tyr166Cys
NM_001077415.3:c.497A>G (CRELD1) MANE Select	NP_001070883.2:p.Tyr166Cys
NM_001374316.1:c.497A>G (CRELD1)	NP_001361245.1:p.Tyr166Cys
NM_001374317.1:c.497A>G (CRELD1)	NP_001361246.1:p.Tyr166Cys
NM_001374318.1:c.497A>G (CRELD1)	NP_001361247.1:p.Tyr166Cys
NM_001374319.1:c.497A>G (CRELD1)	NP_001361248.1:p.Tyr166Cys
NM_001374320.1:c.497A>G (CRELD1)	NP_001361249.1:p.Tyr166Cys
NM_015513.6:c.497A>G (CRELD1)	NP_056328.3:p.Tyr166Cys
NR_164475.1:n.535A>G (CRELD1)
NR_164476.1:n.511A>G (CRELD1)
NR_164477.1:n.885A>G (CRELD1)