Canonical Allele Identifier: CA21838883
Gene: MUTYH HGNC NCBI

Linked Data

dbSNP Id: rs375950759
gnomAD v3: 1-45332868-C-T
gnomAD v4: 1-45332868-C-T
COSMIC: COSN18200881
MyVariant Identifiers: chr1:g.45798540C>T (hg19) chr1:g.45332868C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332868C>T , CM000663.2:g.45332868C>T GRCh38
NC_000001.10:g.45798540C>T , CM000663.1:g.45798540C>T GRCh37
NC_000001.9:g.45571127C>T NCBI36
NG_008189.1:g.12603G>A , LRG_220:g.12603G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.37-34G>A ENSP00000410263.2:n.37-34G>A
ENST00000435155.2:c.454-34G>A ENSP00000403655.2:n.454-34G>A
ENST00000467459.6:c.421-34G>A ENSP00000435889.2:n.421-34G>A
ENST00000483127.2:c.439-34G>A ENSP00000436469.2:n.439-34G>A
ENST00000485271.6:c.421-34G>A ENSP00000431264.2:n.421-34G>A
ENST00000529892.6:c.463-34G>A ENSP00000432528.2:n.463-34G>A
ENST00000533178.6:c.116-181G>A ENSP00000436430.2:n.116-181G>A
ENST00000672314.2:c.421-34G>A ENSP00000500828.2:n.421-34G>A
ENST00000674679.2:c.*333-34G>A ENSP00000501623.2:n.*333-34G>A
ENST00000710952.2:c.505-34G>A MANE Plus Clinical ENSP00000518552.2:n.505-34G>A
ENST00000672818.3:c.496-34G>A ENSP00000500891.1:n.496-34G>A
ENST00000450313.6:c.431-34G>A ENSP00000408176.2:n.431-34G>A
ENST00000456914.7:c.421-34G>A MANE Select ENSP00000407590.2:n.421-34G>A
ENST00000461495.6:c.*160-34G>A ENSP00000437166.1:n.*160-34G>A
ENST00000671856.1:n.367-34G>A
ENST00000671898.1:c.1009-34G>A ENSP00000499896.1:n.1009-34G>A
ENST00000672011.1:c.389-34G>A ENSP00000500418.1:n.389-34G>A
ENST00000672314.1:c.421-34G>A ENSP00000500828.1:n.421-34G>A
ENST00000672593.1:c.*234-34G>A ENSP00000500455.1:n.*234-34G>A
ENST00000672764.1:c.380-34G>A ENSP00000500886.1:n.380-34G>A
ENST00000672818.2:c.496-34G>A ENSP00000500891.1:n.496-34G>A
ENST00000673134.1:c.*118-34G>A ENSP00000500526.1:n.*118-34G>A
ENST00000674679.1:c.449-34G>A ENSP00000501623.1:n.449-34G>A
ENST00000354383.10:c.424-34G>A ENSP00000346354.6:n.424-34G>A
ENST00000355498.6:c.421-34G>A ENSP00000347685.2:n.421-34G>A
ENST00000372098.7:c.496-34G>A ENSP00000361170.3:n.496-34G>A
ENST00000372104.5:c.421-34G>A ENSP00000361176.1:n.421-34G>A
ENST00000372110.7:c.466-34G>A ENSP00000361182.3:n.466-34G>A
ENST00000372115.7:c.463-34G>A ENSP00000361187.3:n.463-34G>A
ENST00000412971.5:c.37-34G>A ENSP00000410263.1:n.37-34G>A
ENST00000435155.1:c.454-34G>A ENSP00000403655.1:n.454-34G>A
ENST00000448481.5:c.454-34G>A ENSP00000409718.1:n.454-34G>A
ENST00000450313.5:c.505-34G>A ENSP00000408176.1:n.505-34G>A
ENST00000456914.6:c.421-34G>A ENSP00000407590.2:n.421-34G>A
ENST00000461495.5:c.*160-34G>A ENSP00000437166.1:n.*160-34G>A
ENST00000462387.5:n.792G>A
ENST00000462388.5:n.78G>A
ENST00000467940.5:c.*344-34G>A ENSP00000436478.1:n.*344-34G>A
ENST00000470256.5:c.308-34G>A ENSP00000434985.1:n.308-34G>A
ENST00000475516.5:c.*234-34G>A ENSP00000433843.1:n.*234-34G>A
ENST00000476789.5:n.827G>A
ENST00000478796.5:n.408-34G>A
ENST00000479746.6:n.670G>A
ENST00000481139.5:n.860G>A
ENST00000481571.5:c.*234-34G>A ENSP00000436597.1:n.*234-34G>A
ENST00000483642.5:n.902G>A
ENST00000485484.5:n.722-34G>A
ENST00000488731.6:c.116-34G>A ENSP00000432330.1:n.116-34G>A
ENST00000492494.5:n.784G>A
ENST00000525160.5:c.*72-34G>A ENSP00000431568.1:n.*72-34G>A
ENST00000528013.6:c.463-34G>A ENSP00000433130.2:n.463-34G>A
ENST00000529984.5:c.116-34G>A ENSP00000437093.1:n.116-34G>A
ENST00000531105.5:c.115+1523G>A ENSP00000431292.1:n.115+1523G>A
ENST00000533178.5:c.122-181G>A ENSP00000436430.1:n.122-181G>A
NM_001048171.1:c.463-34G>A NP_001041636.1:n.463-34G>A
NM_001048172.1:c.424-34G>A NP_001041637.1:n.424-34G>A
NM_001048173.1:c.421-34G>A NP_001041638.1:n.421-34G>A
NM_001048174.1:c.421-34G>A NP_001041639.1:n.421-34G>A
NM_001128425.1:c.505-34G>A , LRG_220t1:c.505-34G>A NP_001121897.1:n.505-34G>A
NM_001293190.1:c.466-34G>A NP_001280119.1:n.466-34G>A
NM_001293191.1:c.454-34G>A NP_001280120.1:n.454-34G>A
NM_001293192.1:c.145-34G>A NP_001280121.1:n.145-34G>A
NM_001293195.1:c.421-34G>A NP_001280124.1:n.421-34G>A
NM_001293196.1:c.145-34G>A NP_001280125.1:n.145-34G>A
NM_012222.2:c.496-34G>A NP_036354.1:n.496-34G>A
XM_011541497.1:c.481-34G>A XP_011539799.1:n.481-34G>A
XM_011541498.1:c.463-34G>A XP_011539800.1:n.463-34G>A
XM_011541499.1:c.463-34G>A XP_011539801.1:n.463-34G>A
XM_011541500.1:c.463-34G>A XP_011539802.1:n.463-34G>A
XM_011541501.1:c.463-34G>A XP_011539803.1:n.463-34G>A
XM_011541502.1:c.463-34G>A XP_011539804.1:n.463-34G>A
XM_011541503.1:c.463-34G>A XP_011539805.1:n.463-34G>A
XM_011541504.1:c.454-34G>A XP_011539806.1:n.454-34G>A
XM_011541505.1:c.43-34G>A XP_011539807.1:n.43-34G>A
XM_011541506.1:c.43-34G>A XP_011539808.1:n.43-34G>A
XM_011541507.1:c.34-34G>A XP_011539809.1:n.34-34G>A
XM_011541508.1:c.49-34G>A XP_011539810.1:n.49-34G>A
XR_946658.1:n.552-34G>A
NM_001350650.1:c.76-34G>A NP_001337579.1:n.76-34G>A
NM_001350651.1:c.76-34G>A NP_001337580.1:n.76-34G>A
NR_146882.1:n.679-34G>A
NR_146883.1:n.493-34G>A
XM_011541497.3:c.481-34G>A XP_011539799.1:n.481-34G>A
XM_011541500.3:c.463-34G>A XP_011539802.1:n.463-34G>A
XM_011541501.2:c.463-34G>A XP_011539803.1:n.463-34G>A
XM_011541502.2:c.463-34G>A XP_011539804.1:n.463-34G>A
XM_011541503.2:c.463-34G>A XP_011539805.1:n.463-34G>A
XM_011541504.2:c.454-34G>A XP_011539806.1:n.454-34G>A
XM_011541505.2:c.43-34G>A XP_011539807.1:n.43-34G>A
XM_011541506.2:c.43-34G>A XP_011539808.1:n.43-34G>A
XM_017001331.1:c.463-34G>A XP_016856820.1:n.463-34G>A
XM_017001332.1:c.463-34G>A XP_016856821.1:n.463-34G>A
XM_017001333.1:c.463-34G>A XP_016856822.1:n.463-34G>A
XM_017001334.1:c.424-34G>A XP_016856823.1:n.424-34G>A
XM_017001335.1:c.145-34G>A XP_016856824.1:n.145-34G>A
XM_017001336.1:c.76-34G>A XP_016856825.1:n.76-34G>A
XM_017001337.1:c.76-34G>A XP_016856826.1:n.76-34G>A
XM_024447244.1:c.76-34G>A XP_024303012.1:n.76-34G>A
XM_024447245.1:c.76-34G>A XP_024303013.1:n.76-34G>A
XM_024447248.1:c.34-34G>A XP_024303016.1:n.34-34G>A
XM_024447249.1:c.-96-34G>A XP_024303017.1:n.-96-34G>A
XM_024447250.1:c.-96-34G>A XP_024303018.1:n.-96-34G>A
XM_024447251.1:c.-130G>A XP_024303019.1:n.-130G>A
XR_001737190.1:n.466-34G>A
XR_001737192.1:n.278-34G>A
XR_002956643.1:n.458-34G>A
XR_002956644.1:n.959G>A
XR_946658.2:n.566-34G>A
NM_001048171.2:c.421-34G>A NP_001041636.2:n.421-34G>A
NM_001128425.2:c.505-34G>A MANE Plus Clinical NP_001121897.1:n.505-34G>A
NM_001048172.2:c.424-34G>A NP_001041637.1:n.424-34G>A
NM_001048173.2:c.421-34G>A NP_001041638.1:n.421-34G>A
NM_001048174.2:c.421-34G>A MANE Select NP_001041639.1:n.421-34G>A
NM_001293190.2:c.466-34G>A NP_001280119.1:n.466-34G>A
NM_001293191.2:c.454-34G>A NP_001280120.1:n.454-34G>A
NM_001293192.2:c.145-34G>A NP_001280121.1:n.145-34G>A
NM_001293195.2:c.421-34G>A NP_001280124.1:n.421-34G>A
NM_001293196.2:c.145-34G>A NP_001280125.1:n.145-34G>A
NM_001350650.2:c.76-34G>A NP_001337579.1:n.76-34G>A
NM_001350651.2:c.76-34G>A NP_001337580.1:n.76-34G>A
NM_012222.3:c.496-34G>A NP_036354.1:n.496-34G>A
NR_146882.2:n.649-34G>A
NR_146883.2:n.498-34G>A
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