Canonical Allele Identifier: CA16617152
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 418343
ClinVar RCV Id: RCV000485940
dbSNP Id: rs1064793198

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45330543A>C , CM000663.2:g.45330543A>C GRCh38
NC_000001.10:g.45796215A>C , CM000663.1:g.45796215A>C GRCh37
NC_000001.9:g.45568802A>C NCBI36
NG_008189.1:g.14928T>G , LRG_220:g.14928T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.1023T>G ENSP00000410263.2:p.Tyr341Ter
ENST00000435155.2:c.1440T>G ENSP00000403655.2:p.Tyr480Ter
ENST00000467459.6:c.*269T>G ENSP00000435889.2:n.*269T>G
ENST00000483127.2:c.1425T>G ENSP00000436469.2:p.Tyr475Ter
ENST00000485271.6:c.1407T>G ENSP00000431264.2:p.Tyr469Ter
ENST00000529892.6:c.1260T>G ENSP00000432528.2:p.Tyr420Ter
ENST00000533178.6:c.*736T>G ENSP00000436430.2:n.*736T>G
ENST00000672314.2:c.1407T>G ENSP00000500828.2:p.Tyr469Ter
ENST00000710952.2:c.1491T>G MANE Plus Clinical ENSP00000518552.2:p.Tyr497Ter
ENST00000672818.3:c.1482T>G ENSP00000500891.1:p.Tyr494Ter
ENST00000456914.7:c.1407T>G MANE Select ENSP00000407590.2:p.Tyr469Ter
ENST00000671898.1:c.1995T>G ENSP00000499896.1:p.Tyr665Ter
ENST00000672011.1:c.*736T>G ENSP00000500418.1:n.*736T>G
ENST00000672818.2:c.1482T>G ENSP00000500891.1:p.Tyr494Ter
ENST00000673134.1:c.*1104T>G ENSP00000500526.1:n.*1104T>G
ENST00000354383.10:c.1410T>G ENSP00000346354.6:p.Tyr470Ter
ENST00000355498.6:c.1407T>G ENSP00000347685.2:p.Tyr469Ter
ENST00000372098.7:c.1482T>G ENSP00000361170.3:p.Tyr494Ter
ENST00000372104.5:c.1407T>G ENSP00000361176.1:p.Tyr469Ter
ENST00000372110.7:c.1452T>G ENSP00000361182.3:p.Tyr484Ter
ENST00000372115.7:c.1449T>G ENSP00000361187.3:p.Tyr483Ter
ENST00000448481.5:c.1440T>G ENSP00000409718.1:p.Tyr480Ter
ENST00000450313.5:c.1491T>G ENSP00000408176.1:p.Tyr497Ter
ENST00000456914.6:c.1407T>G ENSP00000407590.2:p.Tyr469Ter
ENST00000467459.5:c.824T>G ENSP00000435889.1:n.824T>G
ENST00000475516.5:c.*1220T>G ENSP00000433843.1:n.*1220T>G
ENST00000481571.5:c.*1220T>G ENSP00000436597.1:n.*1220T>G
ENST00000482094.5:n.728T>G
ENST00000485271.5:c.104T>G
ENST00000488731.6:c.492T>G ENSP00000432330.1:p.Tyr164Ter
ENST00000528013.6:c.1449T>G ENSP00000433130.2:p.Tyr483Ter
ENST00000529892.5:c.482T>G
ENST00000529984.5:c.492T>G ENSP00000437093.1:p.Tyr164Ter
ENST00000531105.5:c.116-1106T>G ENSP00000431292.1:n.116-1106T>G
ENST00000533178.5:c.1036T>G ENSP00000436430.1:n.1036T>G
NM_001048171.1:c.1449T>G NP_001041636.1:p.Tyr483Ter
NM_001048172.1:c.1410T>G NP_001041637.1:p.Tyr470Ter
NM_001048173.1:c.1407T>G NP_001041638.1:p.Tyr469Ter
NM_001048174.1:c.1407T>G NP_001041639.1:p.Tyr469Ter
NM_001128425.1:c.1491T>G , LRG_220t1:c.1491T>G NP_001121897.1:p.Tyr497Ter
NM_001293190.1:c.1452T>G NP_001280119.1:p.Tyr484Ter
NM_001293191.1:c.1440T>G NP_001280120.1:p.Tyr480Ter
NM_001293192.1:c.1131T>G NP_001280121.1:p.Tyr377Ter
NM_001293195.1:c.1407T>G NP_001280124.1:p.Tyr469Ter
NM_001293196.1:c.1131T>G NP_001280125.1:p.Tyr377Ter
NM_012222.2:c.1482T>G NP_036354.1:p.Tyr494Ter
XM_011541497.1:c.1467T>G XP_011539799.1:p.Tyr489Ter
XM_011541498.1:c.1449T>G XP_011539800.1:p.Tyr483Ter
XM_011541499.1:c.1449T>G XP_011539801.1:p.Tyr483Ter
XM_011541500.1:c.1449T>G XP_011539802.1:p.Tyr483Ter
XM_011541501.1:c.1449T>G XP_011539803.1:p.Tyr483Ter
XM_011541502.1:c.1449T>G XP_011539804.1:p.Tyr483Ter
XM_011541503.1:c.1449T>G XP_011539805.1:p.Tyr483Ter
XM_011541504.1:c.1440T>G XP_011539806.1:p.Tyr480Ter
XM_011541505.1:c.1029T>G XP_011539807.1:p.Tyr343Ter
XM_011541506.1:c.1029T>G XP_011539808.1:p.Tyr343Ter
XM_011541507.1:c.1020T>G XP_011539809.1:p.Tyr340Ter
XM_011541508.1:c.1035T>G XP_011539810.1:p.Tyr345Ter
XR_946658.1:n.1538T>G
NM_001350650.1:c.1062T>G NP_001337579.1:p.Tyr354Ter
NM_001350651.1:c.1062T>G NP_001337580.1:p.Tyr354Ter
NR_146882.1:n.1665T>G
NR_146883.1:n.1479T>G
XM_011541497.3:c.1467T>G XP_011539799.1:p.Tyr489Ter
XM_011541500.3:c.1449T>G XP_011539802.1:p.Tyr483Ter
XM_011541501.2:c.1449T>G XP_011539803.1:p.Tyr483Ter
XM_011541502.2:c.1449T>G XP_011539804.1:p.Tyr483Ter
XM_011541503.2:c.1449T>G XP_011539805.1:p.Tyr483Ter
XM_011541504.2:c.1440T>G XP_011539806.1:p.Tyr480Ter
XM_011541505.2:c.1029T>G XP_011539807.1:p.Tyr343Ter
XM_011541506.2:c.1029T>G XP_011539808.1:p.Tyr343Ter
XM_017001331.1:c.1449T>G XP_016856820.1:p.Tyr483Ter
XM_017001332.1:c.1449T>G XP_016856821.1:p.Tyr483Ter
XM_017001333.1:c.1449T>G XP_016856822.1:p.Tyr483Ter
XM_017001334.1:c.1410T>G XP_016856823.1:p.Tyr470Ter
XM_017001335.1:c.1131T>G XP_016856824.1:p.Tyr377Ter
XM_017001336.1:c.1062T>G XP_016856825.1:p.Tyr354Ter
XM_017001337.1:c.1062T>G XP_016856826.1:p.Tyr354Ter
XM_024447244.1:c.1062T>G XP_024303012.1:p.Tyr354Ter
XM_024447245.1:c.1062T>G XP_024303013.1:p.Tyr354Ter
XM_024447248.1:c.1020T>G XP_024303016.1:p.Tyr340Ter
XM_024447249.1:c.891T>G XP_024303017.1:p.Tyr297Ter
XM_024447250.1:c.891T>G XP_024303018.1:p.Tyr297Ter
XM_024447251.1:c.891T>G XP_024303019.1:p.Tyr297Ter
XR_001737190.1:n.1452T>G
XR_001737192.1:n.1264T>G
XR_002956643.1:n.1444T>G
XR_002956644.1:n.1979T>G
XR_946658.2:n.1552T>G
NM_001048171.2:c.1407T>G NP_001041636.2:p.Tyr469Ter
NM_001128425.2:c.1491T>G MANE Plus Clinical NP_001121897.1:p.Tyr497Ter
NM_001048172.2:c.1410T>G NP_001041637.1:p.Tyr470Ter
NM_001048173.2:c.1407T>G NP_001041638.1:p.Tyr469Ter
NM_001048174.2:c.1407T>G MANE Select NP_001041639.1:p.Tyr469Ter
NM_001293190.2:c.1452T>G NP_001280119.1:p.Tyr484Ter
NM_001293191.2:c.1440T>G NP_001280120.1:p.Tyr480Ter
NM_001293192.2:c.1131T>G NP_001280121.1:p.Tyr377Ter
NM_001293195.2:c.1407T>G NP_001280124.1:p.Tyr469Ter
NM_001293196.2:c.1131T>G NP_001280125.1:p.Tyr377Ter
NM_001350650.2:c.1062T>G NP_001337579.1:p.Tyr354Ter
NM_001350651.2:c.1062T>G NP_001337580.1:p.Tyr354Ter
NM_012222.3:c.1482T>G NP_036354.1:p.Tyr494Ter
NR_146882.2:n.1635T>G
NR_146883.2:n.1484T>G