Canonical Allele Identifier: CA340135580

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 490038
• ClinVar RCV Id: RCV000580110 ; RCV000793415
• dbSNP Id: rs1553128788
• gnomAD v4: 1-45332776-T-A
• MyVariant Identifiers: chr1:g.45798448T>A (hg19) ; chr1:g.45332776T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332776T>A , CM000663.2:g.45332776T>A	GRCh38
NC_000001.10:g.45798448T>A , CM000663.1:g.45798448T>A	GRCh37
NC_000001.9:g.45571035T>A	NCBI36
NG_008189.1:g.12695A>T , LRG_220:g.12695A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.95A>T	ENSP00000410263.2:p.Glu32Val
ENST00000435155.2:c.512A>T	ENSP00000403655.2:p.Glu171Val
ENST00000467459.6:c.479A>T	ENSP00000435889.2:p.Glu160Val
ENST00000483127.2:c.497A>T	ENSP00000436469.2:p.Glu166Val
ENST00000485271.6:c.479A>T	ENSP00000431264.2:p.Glu160Val
ENST00000529892.6:c.521A>T	ENSP00000432528.2:p.Glu174Val
ENST00000533178.6:c.116-89A>T	ENSP00000436430.2:n.116-89A>T
ENST00000672314.2:c.479A>T	ENSP00000500828.2:p.Glu160Val
ENST00000674679.2:c.*391A>T	ENSP00000501623.2:n.*391A>T
ENST00000710952.2:c.563A>T MANE Plus Clinical	ENSP00000518552.2:p.Glu188Val
ENST00000672818.3:c.554A>T	ENSP00000500891.1:p.Glu185Val
ENST00000450313.6:c.489A>T	ENSP00000408176.2:p.Gly163=
ENST00000456914.7:c.479A>T MANE Select	ENSP00000407590.2:p.Glu160Val
ENST00000461495.6:c.*218A>T	ENSP00000437166.1:n.*218A>T
ENST00000671856.1:n.425A>T
ENST00000671898.1:c.1067A>T	ENSP00000499896.1:p.Glu356Val
ENST00000672011.1:c.447A>T	ENSP00000500418.1:p.Gly149=
ENST00000672314.1:c.479A>T	ENSP00000500828.1:p.Glu160Val
ENST00000672593.1:c.*292A>T	ENSP00000500455.1:n.*292A>T
ENST00000672764.1:c.438A>T	ENSP00000500886.1:p.Gly146=
ENST00000672818.2:c.554A>T	ENSP00000500891.1:p.Glu185Val
ENST00000673134.1:c.*176A>T	ENSP00000500526.1:n.*176A>T
ENST00000674679.1:c.507A>T	ENSP00000501623.1:n.507A>T
ENST00000354383.10:c.482A>T	ENSP00000346354.6:p.Glu161Val
ENST00000355498.6:c.479A>T	ENSP00000347685.2:p.Glu160Val
ENST00000372098.7:c.554A>T	ENSP00000361170.3:p.Glu185Val
ENST00000372104.5:c.479A>T	ENSP00000361176.1:p.Glu160Val
ENST00000372110.7:c.524A>T	ENSP00000361182.3:p.Glu175Val
ENST00000372115.7:c.521A>T	ENSP00000361187.3:p.Glu174Val
ENST00000412971.5:c.95A>T	ENSP00000410263.1:p.Glu32Val
ENST00000435155.1:c.512A>T	ENSP00000403655.1:p.Glu171Val
ENST00000448481.5:c.512A>T	ENSP00000409718.1:p.Glu171Val
ENST00000450313.5:c.563A>T	ENSP00000408176.1:p.Glu188Val
ENST00000456914.6:c.479A>T	ENSP00000407590.2:p.Glu160Val
ENST00000461495.5:c.*218A>T	ENSP00000437166.1:n.*218A>T
ENST00000462388.5:n.170A>T
ENST00000467940.5:c.*402A>T	ENSP00000436478.1:n.*402A>T
ENST00000470256.5:c.366A>T	ENSP00000434985.1:p.Gly122=
ENST00000475516.5:c.*292A>T	ENSP00000433843.1:n.*292A>T
ENST00000476789.5:n.919A>T
ENST00000478796.5:n.466A>T
ENST00000479746.6:n.762A>T
ENST00000481139.5:n.952A>T
ENST00000481571.5:c.*292A>T	ENSP00000436597.1:n.*292A>T
ENST00000483642.5:n.994A>T
ENST00000485484.5:n.780A>T
ENST00000488731.6:c.174A>T	ENSP00000432330.1:p.Gly58=
ENST00000492494.5:n.876A>T
ENST00000525160.5:c.*130A>T	ENSP00000431568.1:n.*130A>T
ENST00000528013.6:c.521A>T	ENSP00000433130.2:p.Glu174Val
ENST00000529984.5:c.174A>T	ENSP00000437093.1:p.Gly58=
ENST00000531105.5:c.115+1615A>T	ENSP00000431292.1:n.115+1615A>T
ENST00000533178.5:c.122-89A>T	ENSP00000436430.1:n.122-89A>T
NM_001048171.1:c.521A>T	NP_001041636.1:p.Glu174Val
NM_001048172.1:c.482A>T	NP_001041637.1:p.Glu161Val
NM_001048173.1:c.479A>T	NP_001041638.1:p.Glu160Val
NM_001048174.1:c.479A>T	NP_001041639.1:p.Glu160Val
NM_001128425.1:c.563A>T , LRG_220t1:c.563A>T	NP_001121897.1:p.Glu188Val
NM_001293190.1:c.524A>T	NP_001280119.1:p.Glu175Val
NM_001293191.1:c.512A>T	NP_001280120.1:p.Glu171Val
NM_001293192.1:c.203A>T	NP_001280121.1:p.Glu68Val
NM_001293195.1:c.479A>T	NP_001280124.1:p.Glu160Val
NM_001293196.1:c.203A>T	NP_001280125.1:p.Glu68Val
NM_012222.2:c.554A>T	NP_036354.1:p.Glu185Val
XM_011541497.1:c.539A>T	XP_011539799.1:p.Glu180Val
XM_011541498.1:c.521A>T	XP_011539800.1:p.Glu174Val
XM_011541499.1:c.521A>T	XP_011539801.1:p.Glu174Val
XM_011541500.1:c.521A>T	XP_011539802.1:p.Glu174Val
XM_011541501.1:c.521A>T	XP_011539803.1:p.Glu174Val
XM_011541502.1:c.521A>T	XP_011539804.1:p.Glu174Val
XM_011541503.1:c.521A>T	XP_011539805.1:p.Glu174Val
XM_011541504.1:c.512A>T	XP_011539806.1:p.Glu171Val
XM_011541505.1:c.101A>T	XP_011539807.1:p.Glu34Val
XM_011541506.1:c.101A>T	XP_011539808.1:p.Glu34Val
XM_011541507.1:c.92A>T	XP_011539809.1:p.Glu31Val
XM_011541508.1:c.107A>T	XP_011539810.1:p.Glu36Val
XR_946658.1:n.610A>T
NM_001350650.1:c.134A>T	NP_001337579.1:p.Glu45Val
NM_001350651.1:c.134A>T	NP_001337580.1:p.Glu45Val
NR_146882.1:n.737A>T
NR_146883.1:n.551A>T
XM_011541497.3:c.539A>T	XP_011539799.1:p.Glu180Val
XM_011541500.3:c.521A>T	XP_011539802.1:p.Glu174Val
XM_011541501.2:c.521A>T	XP_011539803.1:p.Glu174Val
XM_011541502.2:c.521A>T	XP_011539804.1:p.Glu174Val
XM_011541503.2:c.521A>T	XP_011539805.1:p.Glu174Val
XM_011541504.2:c.512A>T	XP_011539806.1:p.Glu171Val
XM_011541505.2:c.101A>T	XP_011539807.1:p.Glu34Val
XM_011541506.2:c.101A>T	XP_011539808.1:p.Glu34Val
XM_017001331.1:c.521A>T	XP_016856820.1:p.Glu174Val
XM_017001332.1:c.521A>T	XP_016856821.1:p.Glu174Val
XM_017001333.1:c.521A>T	XP_016856822.1:p.Glu174Val
XM_017001334.1:c.482A>T	XP_016856823.1:p.Glu161Val
XM_017001335.1:c.203A>T	XP_016856824.1:p.Glu68Val
XM_017001336.1:c.134A>T	XP_016856825.1:p.Glu45Val
XM_017001337.1:c.134A>T	XP_016856826.1:p.Glu45Val
XM_024447244.1:c.134A>T	XP_024303012.1:p.Glu45Val
XM_024447245.1:c.134A>T	XP_024303013.1:p.Glu45Val
XM_024447248.1:c.92A>T	XP_024303016.1:p.Glu31Val
XM_024447249.1:c.-38A>T	XP_024303017.1:n.-38A>T
XM_024447250.1:c.-38A>T	XP_024303018.1:n.-38A>T
XM_024447251.1:c.-38A>T	XP_024303019.1:n.-38A>T
XR_001737190.1:n.524A>T
XR_001737192.1:n.336A>T
XR_002956643.1:n.516A>T
XR_002956644.1:n.1051A>T
XR_946658.2:n.624A>T
NM_001048171.2:c.479A>T	NP_001041636.2:p.Glu160Val
NM_001128425.2:c.563A>T MANE Plus Clinical	NP_001121897.1:p.Glu188Val
NM_001048172.2:c.482A>T	NP_001041637.1:p.Glu161Val
NM_001048173.2:c.479A>T	NP_001041638.1:p.Glu160Val
NM_001048174.2:c.479A>T MANE Select	NP_001041639.1:p.Glu160Val
NM_001293190.2:c.524A>T	NP_001280119.1:p.Glu175Val
NM_001293191.2:c.512A>T	NP_001280120.1:p.Glu171Val
NM_001293192.2:c.203A>T	NP_001280121.1:p.Glu68Val
NM_001293195.2:c.479A>T	NP_001280124.1:p.Glu160Val
NM_001293196.2:c.203A>T	NP_001280125.1:p.Glu68Val
NM_001350650.2:c.134A>T	NP_001337579.1:p.Glu45Val
NM_001350651.2:c.134A>T	NP_001337580.1:p.Glu45Val
NM_012222.3:c.554A>T	NP_036354.1:p.Glu185Val
NR_146882.2:n.707A>T
NR_146883.2:n.556A>T