Canonical Allele Identifier: CA340134750
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 1395012
ClinVar RCV Id: RCV001898679
dbSNP Id: rs2149142810

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332394A>C , CM000663.2:g.45332394A>C GRCh38
NC_000001.10:g.45798066A>C , CM000663.1:g.45798066A>C GRCh37
NC_000001.9:g.45570653A>C NCBI36
NG_008189.1:g.13077T>G , LRG_220:g.13077T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.317T>G ENSP00000410263.2:p.Leu106Arg
ENST00000435155.2:c.734T>G ENSP00000403655.2:p.Leu245Arg
ENST00000467459.6:c.701T>G ENSP00000435889.2:p.Leu234Arg
ENST00000483127.2:c.719T>G ENSP00000436469.2:p.Leu240Arg
ENST00000485271.6:c.701T>G ENSP00000431264.2:p.Leu234Arg
ENST00000529892.6:c.743T>G ENSP00000432528.2:p.Leu248Arg
ENST00000533178.6:c.*30T>G ENSP00000436430.2:n.*30T>G
ENST00000672314.2:c.701T>G ENSP00000500828.2:p.Leu234Arg
ENST00000674679.2:c.*613T>G ENSP00000501623.2:n.*613T>G
ENST00000710952.2:c.785T>G MANE Plus Clinical ENSP00000518552.2:p.Leu262Arg
ENST00000672818.3:c.776T>G ENSP00000500891.1:p.Leu259Arg
ENST00000450313.6:c.*30T>G ENSP00000408176.2:n.*30T>G
ENST00000456914.7:c.701T>G MANE Select ENSP00000407590.2:p.Leu234Arg
ENST00000461495.6:c.*440T>G ENSP00000437166.1:n.*440T>G
ENST00000671898.1:c.1289T>G ENSP00000499896.1:p.Leu430Arg
ENST00000672011.1:c.*30T>G ENSP00000500418.1:n.*30T>G
ENST00000672314.1:c.701T>G ENSP00000500828.1:p.Leu234Arg
ENST00000672593.1:c.*674T>G ENSP00000500455.1:n.*674T>G
ENST00000672764.1:c.*30T>G ENSP00000500886.1:n.*30T>G
ENST00000672818.2:c.776T>G ENSP00000500891.1:p.Leu259Arg
ENST00000673134.1:c.*398T>G ENSP00000500526.1:n.*398T>G
ENST00000674679.1:c.729T>G ENSP00000501623.1:n.729T>G
ENST00000354383.10:c.704T>G ENSP00000346354.6:p.Leu235Arg
ENST00000355498.6:c.701T>G ENSP00000347685.2:p.Leu234Arg
ENST00000372098.7:c.776T>G ENSP00000361170.3:p.Leu259Arg
ENST00000372104.5:c.701T>G ENSP00000361176.1:p.Leu234Arg
ENST00000372110.7:c.746T>G ENSP00000361182.3:p.Leu249Arg
ENST00000372115.7:c.743T>G ENSP00000361187.3:p.Leu248Arg
ENST00000412971.5:c.317T>G ENSP00000410263.1:p.Leu106Arg
ENST00000435155.1:c.734T>G ENSP00000403655.1:p.Leu245Arg
ENST00000448481.5:c.734T>G ENSP00000409718.1:p.Leu245Arg
ENST00000450313.5:c.785T>G ENSP00000408176.1:p.Leu262Arg
ENST00000456914.6:c.701T>G ENSP00000407590.2:p.Leu234Arg
ENST00000461495.5:c.*440T>G ENSP00000437166.1:n.*440T>G
ENST00000462388.5:n.392T>G
ENST00000467459.5:c.95T>G ENSP00000435889.1:p.Leu32Arg
ENST00000467940.5:c.*624T>G ENSP00000436478.1:n.*624T>G
ENST00000470256.5:c.*30T>G ENSP00000434985.1:n.*30T>G
ENST00000475516.5:c.*514T>G ENSP00000433843.1:n.*514T>G
ENST00000478796.5:n.688T>G
ENST00000481571.5:c.*514T>G ENSP00000436597.1:n.*514T>G
ENST00000488731.6:c.187+369T>G ENSP00000432330.1:n.187+369T>G
ENST00000528013.6:c.743T>G ENSP00000433130.2:p.Leu248Arg
ENST00000529984.5:c.187+369T>G ENSP00000437093.1:n.187+369T>G
ENST00000531105.5:c.115+1997T>G ENSP00000431292.1:n.115+1997T>G
ENST00000533178.5:c.330T>G ENSP00000436430.1:n.330T>G
NM_001048171.1:c.743T>G NP_001041636.1:p.Leu248Arg
NM_001048172.1:c.704T>G NP_001041637.1:p.Leu235Arg
NM_001048173.1:c.701T>G NP_001041638.1:p.Leu234Arg
NM_001048174.1:c.701T>G NP_001041639.1:p.Leu234Arg
NM_001128425.1:c.785T>G , LRG_220t1:c.785T>G NP_001121897.1:p.Leu262Arg
NM_001293190.1:c.746T>G NP_001280119.1:p.Leu249Arg
NM_001293191.1:c.734T>G NP_001280120.1:p.Leu245Arg
NM_001293192.1:c.425T>G NP_001280121.1:p.Leu142Arg
NM_001293195.1:c.701T>G NP_001280124.1:p.Leu234Arg
NM_001293196.1:c.425T>G NP_001280125.1:p.Leu142Arg
NM_012222.2:c.776T>G NP_036354.1:p.Leu259Arg
XM_011541497.1:c.761T>G XP_011539799.1:p.Leu254Arg
XM_011541498.1:c.743T>G XP_011539800.1:p.Leu248Arg
XM_011541499.1:c.743T>G XP_011539801.1:p.Leu248Arg
XM_011541500.1:c.743T>G XP_011539802.1:p.Leu248Arg
XM_011541501.1:c.743T>G XP_011539803.1:p.Leu248Arg
XM_011541502.1:c.743T>G XP_011539804.1:p.Leu248Arg
XM_011541503.1:c.743T>G XP_011539805.1:p.Leu248Arg
XM_011541504.1:c.734T>G XP_011539806.1:p.Leu245Arg
XM_011541505.1:c.323T>G XP_011539807.1:p.Leu108Arg
XM_011541506.1:c.323T>G XP_011539808.1:p.Leu108Arg
XM_011541507.1:c.314T>G XP_011539809.1:p.Leu105Arg
XM_011541508.1:c.329T>G XP_011539810.1:p.Leu110Arg
XR_946658.1:n.832T>G
NM_001350650.1:c.356T>G NP_001337579.1:p.Leu119Arg
NM_001350651.1:c.356T>G NP_001337580.1:p.Leu119Arg
NR_146882.1:n.959T>G
NR_146883.1:n.773T>G
XM_011541497.3:c.761T>G XP_011539799.1:p.Leu254Arg
XM_011541500.3:c.743T>G XP_011539802.1:p.Leu248Arg
XM_011541501.2:c.743T>G XP_011539803.1:p.Leu248Arg
XM_011541502.2:c.743T>G XP_011539804.1:p.Leu248Arg
XM_011541503.2:c.743T>G XP_011539805.1:p.Leu248Arg
XM_011541504.2:c.734T>G XP_011539806.1:p.Leu245Arg
XM_011541505.2:c.323T>G XP_011539807.1:p.Leu108Arg
XM_011541506.2:c.323T>G XP_011539808.1:p.Leu108Arg
XM_017001331.1:c.743T>G XP_016856820.1:p.Leu248Arg
XM_017001332.1:c.743T>G XP_016856821.1:p.Leu248Arg
XM_017001333.1:c.743T>G XP_016856822.1:p.Leu248Arg
XM_017001334.1:c.704T>G XP_016856823.1:p.Leu235Arg
XM_017001335.1:c.425T>G XP_016856824.1:p.Leu142Arg
XM_017001336.1:c.356T>G XP_016856825.1:p.Leu119Arg
XM_017001337.1:c.356T>G XP_016856826.1:p.Leu119Arg
XM_024447244.1:c.356T>G XP_024303012.1:p.Leu119Arg
XM_024447245.1:c.356T>G XP_024303013.1:p.Leu119Arg
XM_024447248.1:c.314T>G XP_024303016.1:p.Leu105Arg
XM_024447249.1:c.185T>G XP_024303017.1:p.Leu62Arg
XM_024447250.1:c.185T>G XP_024303018.1:p.Leu62Arg
XM_024447251.1:c.185T>G XP_024303019.1:p.Leu62Arg
XR_001737190.1:n.746T>G
XR_001737192.1:n.558T>G
XR_002956643.1:n.738T>G
XR_002956644.1:n.1273T>G
XR_946658.2:n.846T>G
NM_001048171.2:c.701T>G NP_001041636.2:p.Leu234Arg
NM_001128425.2:c.785T>G MANE Plus Clinical NP_001121897.1:p.Leu262Arg
NM_001048172.2:c.704T>G NP_001041637.1:p.Leu235Arg
NM_001048173.2:c.701T>G NP_001041638.1:p.Leu234Arg
NM_001048174.2:c.701T>G MANE Select NP_001041639.1:p.Leu234Arg
NM_001293190.2:c.746T>G NP_001280119.1:p.Leu249Arg
NM_001293191.2:c.734T>G NP_001280120.1:p.Leu245Arg
NM_001293192.2:c.425T>G NP_001280121.1:p.Leu142Arg
NM_001293195.2:c.701T>G NP_001280124.1:p.Leu234Arg
NM_001293196.2:c.425T>G NP_001280125.1:p.Leu142Arg
NM_001350650.2:c.356T>G NP_001337579.1:p.Leu119Arg
NM_001350651.2:c.356T>G NP_001337580.1:p.Leu119Arg
NM_012222.3:c.776T>G NP_036354.1:p.Leu259Arg
NR_146882.2:n.929T>G
NR_146883.2:n.778T>G