Canonical Allele Identifier: CA011650
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 5297
dbSNP Id: rs121908381

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331220C>A , CM000663.2:g.45331220C>A GRCh38
NC_000001.10:g.45796892C>A , CM000663.1:g.45796892C>A GRCh37
NC_000001.9:g.45569479C>A NCBI36
NG_008189.1:g.14251G>T , LRG_220:g.14251G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000456914.7:c.1354G>T MANE Select ENSP00000407590.2:p.Glu452Ter
ENST00000671898.1:c.1942G>T ENSP00000499896.1:p.Glu648Ter
ENST00000672011.1:c.*683G>T ENSP00000500418.1:p.=
ENST00000672314.1:c.1354G>T ENSP00000500828.1:p.Glu452Ter
ENST00000672818.2:c.1429G>T ENSP00000500891.1:p.Glu477Ter
ENST00000673134.1:c.*1051G>T ENSP00000500526.1:p.=
ENST00000354383.10:c.1357G>T ENSP00000346354.6:p.Glu453Ter
ENST00000355498.6:c.1354G>T ENSP00000347685.2:p.Glu452Ter
ENST00000372098.7:c.1429G>T ENSP00000361170.3:p.Glu477Ter
ENST00000372104.5:c.1354G>T ENSP00000361176.1:p.Glu452Ter
ENST00000372110.7:c.1399G>T ENSP00000361182.3:p.Glu467Ter
ENST00000372115.7:c.1396G>T ENSP00000361187.3:p.Glu466Ter
ENST00000448481.5:c.1387G>T ENSP00000409718.1:p.Glu463Ter
ENST00000450313.5:c.1438G>T ENSP00000408176.1:p.Glu480Ter
ENST00000456914.6:c.1354G>T ENSP00000407590.2:p.Glu452Ter
ENST00000467459.5:n.771G>T ENSP00000435889.1:p.=
ENST00000475516.5:c.*1167G>T ENSP00000433843.1:p.=
ENST00000481571.5:c.*1167G>T ENSP00000436597.1:p.=
ENST00000482094.5:n.675G>T
ENST00000485271.5:n.51G>T
ENST00000488731.6:c.439G>T ENSP00000432330.1:p.Glu147Ter
ENST00000528013.6:c.1396G>T ENSP00000433130.2:p.Glu466Ter
ENST00000529892.5:n.429G>T
ENST00000529984.5:c.439G>T ENSP00000437093.1:p.Glu147Ter
ENST00000531105.5:c.116-1783G>T ENSP00000431292.1:p.=
ENST00000533178.5:n.983G>T ENSP00000436430.1:p.=
NM_001048171.1:c.1396G>T NP_001041636.1:p.Glu466Ter
NM_001048172.1:c.1357G>T NP_001041637.1:p.Glu453Ter
NM_001048173.1:c.1354G>T NP_001041638.1:p.Glu452Ter
NM_001048174.1:c.1354G>T NP_001041639.1:p.Glu452Ter
NM_001128425.1:c.1438G>T , LRG_220t1:c.1438G>T NP_001121897.1:p.Glu480Ter
NM_001293190.1:c.1399G>T NP_001280119.1:p.Glu467Ter
NM_001293191.1:c.1387G>T NP_001280120.1:p.Glu463Ter
NM_001293192.1:c.1078G>T NP_001280121.1:p.Glu360Ter
NM_001293195.1:c.1354G>T NP_001280124.1:p.Glu452Ter
NM_001293196.1:c.1078G>T NP_001280125.1:p.Glu360Ter
NM_012222.2:c.1429G>T NP_036354.1:p.Glu477Ter
XM_011541497.1:c.1414G>T XP_011539799.1:p.Glu472Ter
XM_011541498.1:c.1396G>T XP_011539800.1:p.Glu466Ter
XM_011541499.1:c.1396G>T XP_011539801.1:p.Glu466Ter
XM_011541500.1:c.1396G>T XP_011539802.1:p.Glu466Ter
XM_011541501.1:c.1396G>T XP_011539803.1:p.Glu466Ter
XM_011541502.1:c.1396G>T XP_011539804.1:p.Glu466Ter
XM_011541503.1:c.1396G>T XP_011539805.1:p.Glu466Ter
XM_011541504.1:c.1387G>T XP_011539806.1:p.Glu463Ter
XM_011541505.1:c.976G>T XP_011539807.1:p.Glu326Ter
XM_011541506.1:c.976G>T XP_011539808.1:p.Glu326Ter
XM_011541507.1:c.967G>T XP_011539809.1:p.Glu323Ter
XM_011541508.1:c.982G>T XP_011539810.1:p.Glu328Ter
XR_946658.1:n.1485G>T
NM_001350650.1:c.1009G>T NP_001337579.1:p.Glu337Ter
NM_001350651.1:c.1009G>T NP_001337580.1:p.Glu337Ter
NR_146882.1:n.1612G>T
NR_146883.1:n.1426G>T
XM_011541497.3:c.1414G>T XP_011539799.1:p.Glu472Ter
XM_011541500.3:c.1396G>T XP_011539802.1:p.Glu466Ter
XM_011541501.2:c.1396G>T XP_011539803.1:p.Glu466Ter
XM_011541502.2:c.1396G>T XP_011539804.1:p.Glu466Ter
XM_011541503.2:c.1396G>T XP_011539805.1:p.Glu466Ter
XM_011541504.2:c.1387G>T XP_011539806.1:p.Glu463Ter
XM_011541505.2:c.976G>T XP_011539807.1:p.Glu326Ter
XM_011541506.2:c.976G>T XP_011539808.1:p.Glu326Ter
XM_017001331.1:c.1396G>T XP_016856820.1:p.Glu466Ter
XM_017001332.1:c.1396G>T XP_016856821.1:p.Glu466Ter
XM_017001333.1:c.1396G>T XP_016856822.1:p.Glu466Ter
XM_017001334.1:c.1357G>T XP_016856823.1:p.Glu453Ter
XM_017001335.1:c.1078G>T XP_016856824.1:p.Glu360Ter
XM_017001336.1:c.1009G>T XP_016856825.1:p.Glu337Ter
XM_017001337.1:c.1009G>T XP_016856826.1:p.Glu337Ter
XM_024447244.1:c.1009G>T XP_024303012.1:p.Glu337Ter
XM_024447245.1:c.1009G>T XP_024303013.1:p.Glu337Ter
XM_024447248.1:c.967G>T XP_024303016.1:p.Glu323Ter
XM_024447249.1:c.838G>T XP_024303017.1:p.Glu280Ter
XM_024447250.1:c.838G>T XP_024303018.1:p.Glu280Ter
XM_024447251.1:c.838G>T XP_024303019.1:p.Glu280Ter
XR_001737190.1:n.1399G>T
XR_001737192.1:n.1211G>T
XR_002956643.1:n.1391G>T
XR_002956644.1:n.1926G>T
XR_946658.2:n.1499G>T
NM_001048171.2:c.1354G>T NP_001041636.2:p.Glu452Ter
NM_001128425.2:c.1438G>T NP_001121897.1:p.Glu480Ter
NM_001048172.2:c.1357G>T NP_001041637.1:p.Glu453Ter
NM_001048173.2:c.1354G>T NP_001041638.1:p.Glu452Ter
NM_001048174.2:c.1354G>T MANE Select NP_001041639.1:p.Glu452Ter
NM_001293190.2:c.1399G>T NP_001280119.1:p.Glu467Ter
NM_001293191.2:c.1387G>T NP_001280120.1:p.Glu463Ter
NM_001293192.2:c.1078G>T NP_001280121.1:p.Glu360Ter
NM_001293195.2:c.1354G>T NP_001280124.1:p.Glu452Ter
NM_001293196.2:c.1078G>T NP_001280125.1:p.Glu360Ter
NM_001350650.2:c.1009G>T NP_001337579.1:p.Glu337Ter
NM_001350651.2:c.1009G>T NP_001337580.1:p.Glu337Ter
NM_012222.3:c.1429G>T NP_036354.1:p.Glu477Ter
NR_146882.2:n.1582G>T
NR_146883.2:n.1431G>T