Canonical Allele Identifier: CA432388724

Gene: PRRT3 CRELD1

Linked Data

• dbSNP Id: rs1406592819
• gnomAD v2: 3-9982544-G-T
• gnomAD v4: 3-9940860-G-T
• MyVariant Identifiers: chr3:g.9982544G>T (hg19) ; chr3:g.9940860G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9940860G>T , CM000665.2:g.9940860G>T	GRCh38
NC_000003.11:g.9982544G>T , CM000665.1:g.9982544G>T	GRCh37
NC_000003.10:g.9957544G>T	NCBI36
NG_017069.1:g.12020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696835.1:c.*1119G>T	ENSP00000512913.1:n.*1119G>T
ENST00000696836.1:c.*1119G>T	ENSP00000512914.1:n.*1119G>T
ENST00000696837.1:c.*1948G>T	ENSP00000512915.1:n.*1948G>T
ENST00000696838.1:c.*1119G>T	ENSP00000512916.1:n.*1119G>T
ENST00000696839.1:c.*1119G>T	ENSP00000512917.1:n.*1119G>T
ENST00000707135.1:n.1221-226C>A (PRRT3)
ENST00000707136.1:n.1826-232C>A (PRRT3)
ENST00000397170.8:c.471G>T (CRELD1)	ENSP00000380355.4:p.Gly157=
ENST00000414117.6:c.360G>T (CRELD1)	ENSP00000411021.2:p.Gly120=
ENST00000467713.6:n.577G>T (CRELD1)
ENST00000489674.6:n.47G>T (CRELD1)
ENST00000673635.2:c.*137G>T (CRELD1)	ENSP00000501186.2:n.*137G>T
ENST00000673677.2:c.471G>T (CRELD1)	ENSP00000500985.2:p.Gly157=
ENST00000673737.2:c.471G>T (CRELD1)	ENSP00000501208.1:p.Gly157=
ENST00000673935.2:c.471G>T (CRELD1)	ENSP00000500961.2:p.Gly157=
ENST00000674067.2:c.*53G>T (CRELD1)	ENSP00000501009.2:n.*53G>T
ENST00000681970.1:n.1137G>T
ENST00000682120.1:n.573G>T (CRELD1)
ENST00000682122.1:c.*119G>T	ENSP00000507036.1:n.*119G>T
ENST00000682200.1:c.379G>T (CRELD1)	ENSP00000508321.1:p.Gly127Trp
ENST00000682318.1:c.268G>T (CRELD1)	ENSP00000507946.1:p.Gly90Trp
ENST00000682397.1:c.268G>T (CRELD1)	ENSP00000507177.1:p.Gly90Trp
ENST00000682403.1:c.268G>T (CRELD1)	ENSP00000507865.1:p.Gly90Trp
ENST00000682570.1:c.471G>T (CRELD1)	ENSP00000507973.1:p.Gly157=
ENST00000682642.1:c.471G>T (CRELD1)	ENSP00000507251.1:p.Gly157=
ENST00000682771.1:c.471G>T (CRELD1)	ENSP00000507114.1:p.Gly157=
ENST00000682783.1:c.471G>T (CRELD1)	ENSP00000508358.1:p.Gly157=
ENST00000682790.1:c.*45G>T (CRELD1)	ENSP00000507904.1:n.*45G>T
ENST00000682798.1:n.1076G>T (CRELD1)
ENST00000682866.1:n.490G>T (CRELD1)
ENST00000682884.1:n.965G>T (CRELD1)
ENST00000682906.1:c.268G>T (CRELD1)	ENSP00000507674.1:p.Gly90Trp
ENST00000682907.1:c.471G>T (CRELD1)	ENSP00000508209.1:p.Gly157=
ENST00000682929.1:c.471G>T (CRELD1)	ENSP00000507930.1:p.Gly157=
ENST00000682967.1:n.656G>T (CRELD1)
ENST00000683061.1:n.2054G>T
ENST00000683083.1:n.579G>T (CRELD1)
ENST00000683127.1:c.471G>T (CRELD1)	ENSP00000506906.1:p.Gly157=
ENST00000683189.1:c.471G>T (CRELD1)	ENSP00000508018.1:p.Gly157=
ENST00000683232.1:c.268G>T (CRELD1)	ENSP00000506842.1:p.Gly90Trp
ENST00000683239.1:n.601G>T (CRELD1)
ENST00000683279.1:n.550G>T (CRELD1)
ENST00000683301.1:c.268G>T (CRELD1)	ENSP00000507718.1:p.Gly90Trp
ENST00000683316.1:c.471G>T (CRELD1)	ENSP00000507076.1:p.Gly157=
ENST00000683388.1:n.2575G>T (CRELD1)
ENST00000683467.1:n.693G>T (CRELD1)
ENST00000683484.1:c.*119G>T	ENSP00000507040.1:n.*119G>T
ENST00000683547.1:c.471G>T (CRELD1)	ENSP00000507258.1:p.Gly157=
ENST00000683601.1:c.471G>T (CRELD1)	ENSP00000507737.1:p.Gly157=
ENST00000683603.1:c.471G>T (CRELD1)	ENSP00000508016.1:p.Gly157=
ENST00000683736.1:c.350-251G>T (CRELD1)	ENSP00000507761.1:n.350-251G>T
ENST00000683835.1:c.471G>T (CRELD1)	ENSP00000508148.1:p.Gly157=
ENST00000683849.1:c.268G>T (CRELD1)	ENSP00000506901.1:p.Gly90Trp
ENST00000683888.1:n.1076G>T (CRELD1)
ENST00000683891.1:c.379G>T (CRELD1)	ENSP00000506972.1:p.Gly127Trp
ENST00000683921.1:c.*525G>T (CRELD1)	ENSP00000507395.1:n.*525G>T
ENST00000683970.1:c.471G>T (CRELD1)	ENSP00000507906.1:p.Gly157=
ENST00000683982.1:c.471G>T (CRELD1)	ENSP00000507437.1:p.Gly157=
ENST00000684181.1:c.471G>T (CRELD1)	ENSP00000507522.1:p.Gly157=
ENST00000684212.1:c.471G>T (CRELD1)	ENSP00000507565.1:p.Gly157=
ENST00000684243.1:c.*137G>T (CRELD1)	ENSP00000506959.1:n.*137G>T
ENST00000684291.1:c.471G>T (CRELD1)	ENSP00000506927.1:p.Gly157=
ENST00000684318.1:c.471G>T (CRELD1)	ENSP00000508180.1:p.Gly157=
ENST00000684419.1:n.1053G>T (CRELD1)
ENST00000684493.1:c.471G>T (CRELD1)	ENSP00000507127.1:p.Gly157=
ENST00000684526.1:c.379G>T (CRELD1)	ENSP00000508163.1:p.Gly127Trp
ENST00000684532.1:c.471G>T (CRELD1)	ENSP00000508212.1:p.Gly157=
ENST00000684601.1:c.471G>T (CRELD1)	ENSP00000507886.1:p.Gly157=
ENST00000684613.1:c.471G>T (CRELD1)	ENSP00000508218.1:p.Gly157=
ENST00000684629.1:c.268G>T (CRELD1)	ENSP00000506879.1:p.Gly90Trp
ENST00000684648.1:c.379G>T (CRELD1)	ENSP00000507931.1:p.Gly127Trp
ENST00000383811.8:c.471G>T (CRELD1)	ENSP00000373322.3:p.Gly157=
ENST00000452070.6:c.471G>T (CRELD1) MANE Select	ENSP00000393643.2:p.Gly157=
ENST00000673635.1:c.326G>T (CRELD1)	ENSP00000501186.1:n.326G>T
ENST00000673677.1:c.741G>T	ENSP00000500985.1:n.741G>T
ENST00000673737.1:c.471G>T (CRELD1)	ENSP00000501208.1:p.Gly157=
ENST00000674057.1:c.*137G>T (CRELD1)	ENSP00000501128.1:n.*137G>T
ENST00000674067.1:c.236G>T	ENSP00000501009.1:n.236G>T
ENST00000326434.9:c.471G>T (CRELD1)	ENSP00000321856.5:p.Gly157=
ENST00000383811.7:c.471G>T (CRELD1)	ENSP00000373322.3:p.Gly157=
ENST00000397170.7:c.471G>T (CRELD1)	ENSP00000380355.3:p.Gly157=
ENST00000414117.5:c.268G>T (CRELD1)	ENSP00000411021.1:p.Gly90Trp
ENST00000452070.5:c.471G>T (CRELD1)	ENSP00000393643.1:p.Gly157=
NM_001031717.3:c.471G>T (CRELD1)	NP_001026887.1:p.Gly157=
NM_001077415.2:c.471G>T (CRELD1)	NP_001070883.1:p.Gly157=
NM_015513.4:c.471G>T (CRELD1)	NP_056328.2:p.Gly157=
XM_011534108.1:c.471G>T (CRELD1)	XP_011532410.1:p.Gly157=
XR_002959584.1:n.555G>T (CRELD1)
NM_001031717.4:c.471G>T (CRELD1)	NP_001026887.2:p.Gly157=
NM_001077415.3:c.471G>T (CRELD1) MANE Select	NP_001070883.2:p.Gly157=
NM_001374316.1:c.471G>T (CRELD1)	NP_001361245.1:p.Gly157=
NM_001374317.1:c.471G>T (CRELD1)	NP_001361246.1:p.Gly157=
NM_001374318.1:c.471G>T (CRELD1)	NP_001361247.1:p.Gly157=
NM_001374319.1:c.471G>T (CRELD1)	NP_001361248.1:p.Gly157=
NM_001374320.1:c.471G>T (CRELD1)	NP_001361249.1:p.Gly157=
NM_015513.6:c.471G>T (CRELD1)	NP_056328.3:p.Gly157=
NR_164475.1:n.509G>T (CRELD1)
NR_164476.1:n.485G>T (CRELD1)
NR_164477.1:n.859G>T (CRELD1)