Canonical Allele Identifier: CA340136925
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 819581
ClinVar RCV Id: RCV001012251
dbSNP Id: rs1570463568

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45334391C>T , CM000663.2:g.45334391C>T GRCh38
NC_000001.10:g.45800063C>T , CM000663.1:g.45800063C>T GRCh37
NC_000001.9:g.45572650C>T NCBI36
NG_008189.1:g.11080G>A , LRG_220:g.11080G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.37-1557G>A ENSP00000410263.2:n.37-1557G>A
ENST00000435155.2:c.115G>A ENSP00000403655.2:p.Gly39Arg
ENST00000467459.6:c.115G>A ENSP00000435889.2:p.Gly39Ser
ENST00000483127.2:c.133G>A ENSP00000436469.2:p.Gly45Ser
ENST00000485271.6:c.115G>A ENSP00000431264.2:p.Gly39Ser
ENST00000529892.6:c.157G>A ENSP00000432528.2:p.Gly53Ser
ENST00000533178.6:c.115G>A ENSP00000436430.2:p.Gly39Ser
ENST00000672314.2:c.115G>A ENSP00000500828.2:p.Gly39Ser
ENST00000674679.2:c.115G>A ENSP00000501623.2:p.Asp39Asn
ENST00000710952.2:c.157G>A MANE Plus Clinical ENSP00000518552.2:p.Ala53Thr
ENST00000672818.3:c.157G>A ENSP00000500891.1:p.Gly53Arg
ENST00000450313.6:c.157G>A ENSP00000408176.2:p.Ala53Thr
ENST00000456914.7:c.115G>A MANE Select ENSP00000407590.2:p.Gly39Ser
ENST00000461495.6:c.157G>A ENSP00000437166.1:p.Glu53Lys
ENST00000671856.1:n.135G>A
ENST00000671898.1:c.661G>A ENSP00000499896.1:p.Ala221Thr
ENST00000672011.1:c.157G>A ENSP00000500418.1:p.Gly53Ser
ENST00000672314.1:c.115G>A ENSP00000500828.1:p.Gly39Ser
ENST00000672593.1:c.115G>A ENSP00000500455.1:p.Glu39Lys
ENST00000672764.1:c.115G>A ENSP00000500886.1:p.Gly39Arg
ENST00000672818.2:c.157G>A ENSP00000500891.1:p.Gly53Arg
ENST00000673134.1:c.115G>A ENSP00000500526.1:p.Glu39Lys
ENST00000674679.1:c.87G>A ENSP00000501623.1:p.Met29Ile
ENST00000354383.10:c.115G>A ENSP00000346354.6:p.Ala39Thr
ENST00000355498.6:c.115G>A ENSP00000347685.2:p.Gly39Ser
ENST00000372098.7:c.157G>A ENSP00000361170.3:p.Gly53Arg
ENST00000372104.5:c.115G>A ENSP00000361176.1:p.Gly39Ser
ENST00000372110.7:c.157G>A ENSP00000361182.3:p.Ala53Thr
ENST00000372115.7:c.157G>A ENSP00000361187.3:p.Gly53Ser
ENST00000412971.5:c.37-1557G>A ENSP00000410263.1:n.37-1557G>A
ENST00000435155.1:c.115G>A ENSP00000403655.1:p.Gly39Arg
ENST00000448481.5:c.115G>A ENSP00000409718.1:p.Gly39Arg
ENST00000450313.5:c.157G>A ENSP00000408176.1:p.Ala53Thr
ENST00000456914.6:c.115G>A ENSP00000407590.2:p.Gly39Ser
ENST00000461495.5:c.157G>A ENSP00000437166.1:p.Glu53Lys
ENST00000462387.5:n.335G>A
ENST00000467940.5:c.*35G>A ENSP00000436478.1:n.*35G>A
ENST00000470256.5:c.115G>A ENSP00000434985.1:p.Ala39Thr
ENST00000474703.1:n.237G>A
ENST00000475516.5:c.115G>A ENSP00000433843.1:p.Glu39Lys
ENST00000476789.5:n.335G>A
ENST00000479746.6:n.178G>A
ENST00000481139.5:n.318G>A
ENST00000481571.5:c.157G>A ENSP00000436597.1:p.Glu53Lys
ENST00000483127.1:c.133G>A ENSP00000436469.1:p.Gly45Ser
ENST00000483642.5:n.296G>A
ENST00000485484.5:n.165G>A
ENST00000488731.6:c.115G>A ENSP00000432330.1:p.Gly39Arg
ENST00000492494.5:n.178G>A
ENST00000525160.5:c.157G>A ENSP00000431568.1:p.Gly53Ser
ENST00000528013.6:c.115G>A ENSP00000433130.2:p.Ala39Thr
ENST00000529984.5:c.115G>A ENSP00000437093.1:p.Gly39Arg
ENST00000531105.5:c.115G>A ENSP00000431292.1:p.Gly39Arg
ENST00000533178.5:c.121G>A ENSP00000436430.1:p.Gly41Ser
ENST00000534453.1:n.381G>A
NM_001048171.1:c.157G>A NP_001041636.1:p.Gly53Ser
NM_001048172.1:c.115G>A NP_001041637.1:p.Ala39Thr
NM_001048173.1:c.115G>A NP_001041638.1:p.Gly39Ser
NM_001048174.1:c.115G>A NP_001041639.1:p.Gly39Ser
NM_001128425.1:c.157G>A , LRG_220t1:c.157G>A NP_001121897.1:p.Ala53Thr
NM_001293190.1:c.157G>A NP_001280119.1:p.Ala53Thr
NM_001293191.1:c.115G>A NP_001280120.1:p.Gly39Arg
NM_001293192.1:c.-98G>A NP_001280121.1:n.-98G>A
NM_001293195.1:c.115G>A NP_001280124.1:p.Gly39Ser
NM_001293196.1:c.-98G>A NP_001280125.1:n.-98G>A
NM_012222.2:c.157G>A NP_036354.1:p.Gly53Arg
XM_011541497.1:c.133G>A XP_011539799.1:p.Ala45Thr
XM_011541498.1:c.115G>A XP_011539800.1:p.Ala39Thr
XM_011541499.1:c.115G>A XP_011539801.1:p.Ala39Thr
XM_011541500.1:c.115G>A XP_011539802.1:p.Ala39Thr
XM_011541501.1:c.115G>A XP_011539803.1:p.Ala39Thr
XM_011541502.1:c.115G>A XP_011539804.1:p.Ala39Thr
XM_011541503.1:c.157G>A XP_011539805.1:p.Ala53Thr
XM_011541504.1:c.115G>A XP_011539806.1:p.Gly39Arg
XM_011541505.1:c.42G>A XP_011539807.1:p.Met14Ile
XM_011541506.1:c.42G>A XP_011539808.1:p.Met14Ile
XR_946658.1:n.204G>A
NM_001350650.1:c.-157G>A NP_001337579.1:n.-157G>A
NM_001350651.1:c.-93G>A NP_001337580.1:n.-93G>A
NR_146882.1:n.373G>A
NR_146883.1:n.261G>A
XM_011541497.3:c.133G>A XP_011539799.1:p.Ala45Thr
XM_011541500.3:c.115G>A XP_011539802.1:p.Ala39Thr
XM_011541501.2:c.115G>A XP_011539803.1:p.Ala39Thr
XM_011541502.2:c.115G>A XP_011539804.1:p.Ala39Thr
XM_011541503.2:c.157G>A XP_011539805.1:p.Ala53Thr
XM_011541504.2:c.115G>A XP_011539806.1:p.Gly39Arg
XM_011541505.2:c.42G>A XP_011539807.1:p.Met14Ile
XM_011541506.2:c.42G>A XP_011539808.1:p.Met14Ile
XM_017001331.1:c.115G>A XP_016856820.1:p.Ala39Thr
XM_017001332.1:c.115G>A XP_016856821.1:p.Ala39Thr
XM_017001333.1:c.115G>A XP_016856822.1:p.Ala39Thr
XM_017001334.1:c.115G>A XP_016856823.1:p.Ala39Thr
XM_017001335.1:c.-98G>A XP_016856824.1:n.-98G>A
XM_017001336.1:c.-190G>A XP_016856825.1:n.-190G>A
XM_017001337.1:c.-190G>A XP_016856826.1:n.-190G>A
XM_024447244.1:c.-199G>A XP_024303012.1:n.-199G>A
XM_024447245.1:c.-160G>A XP_024303013.1:n.-160G>A
XM_024447248.1:c.-157G>A XP_024303016.1:n.-157G>A
XM_024447249.1:c.-653G>A XP_024303017.1:n.-653G>A
XM_024447250.1:c.-656G>A XP_024303018.1:n.-656G>A
XM_024447251.1:c.-347G>A XP_024303019.1:n.-347G>A
XR_001737190.1:n.224G>A
XR_001737192.1:n.152G>A
XR_002956643.1:n.332G>A
XR_002956644.1:n.350G>A
XR_946658.2:n.218G>A
NM_001048171.2:c.115G>A NP_001041636.2:p.Gly39Ser
NM_001128425.2:c.157G>A MANE Plus Clinical NP_001121897.1:p.Ala53Thr
NM_001048172.2:c.115G>A NP_001041637.1:p.Ala39Thr
NM_001048173.2:c.115G>A NP_001041638.1:p.Gly39Ser
NM_001048174.2:c.115G>A MANE Select NP_001041639.1:p.Gly39Ser
NM_001293190.2:c.157G>A NP_001280119.1:p.Ala53Thr
NM_001293191.2:c.115G>A NP_001280120.1:p.Gly39Arg
NM_001293192.2:c.-98G>A NP_001280121.1:n.-98G>A
NM_001293195.2:c.115G>A NP_001280124.1:p.Gly39Ser
NM_001293196.2:c.-98G>A NP_001280125.1:n.-98G>A
NM_001350650.2:c.-157G>A NP_001337579.1:n.-157G>A
NM_001350651.2:c.-93G>A NP_001337580.1:n.-93G>A
NM_012222.3:c.157G>A NP_036354.1:p.Gly53Arg
NR_146882.2:n.343G>A
NR_146883.2:n.266G>A