Canonical Allele Identifier: CA013572
Community Standard Title: NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser)
Gene: MUTYH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45333119T>C , CM000663.2:g.45333119T>C GRCh38
NC_000001.10:g.45798791T>C , CM000663.1:g.45798791T>C GRCh37
NC_000001.9:g.45571378T>C NCBI36
NG_008189.1:g.12352A>G , LRG_220:g.12352A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001048174.2:c.356A>G MANE Select NP_001041639.1:p.Asn119Ser
ENST00000456914.7:c.356A>G MANE Select ENSP00000407590.2:p.Asn119Ser
NM_001128425.2:c.440A>G MANE Plus Clinical NP_001121897.1:p.Asn147Ser
ENST00000710952.2:c.440A>G MANE Plus Clinical ENSP00000518552.2:p.Asn147Ser
NM_001048171.1:c.398A>G NP_001041636.1:p.Asn133Ser
NM_001048171.2:c.356A>G NP_001041636.2:p.Asn119Ser
NM_001048172.1:c.359A>G NP_001041637.1:p.Asn120Ser
NM_001048172.2:c.359A>G NP_001041637.1:p.Asn120Ser
NM_001048173.1:c.356A>G NP_001041638.1:p.Asn119Ser
NM_001048173.2:c.356A>G NP_001041638.1:p.Asn119Ser
NM_001048174.1:c.356A>G NP_001041639.1:p.Asn119Ser
NM_001128425.1:c.440A>G , LRG_220t1:c.440A>G NP_001121897.1:p.Asn147Ser
NM_001293190.1:c.401A>G NP_001280119.1:p.Asn134Ser
NM_001293190.2:c.401A>G NP_001280119.1:p.Asn134Ser
NM_001293191.1:c.389A>G NP_001280120.1:p.Asn130Ser
NM_001293191.2:c.389A>G NP_001280120.1:p.Asn130Ser
NM_001293192.1:c.80A>G NP_001280121.1:p.Asn27Ser
NM_001293192.2:c.80A>G NP_001280121.1:p.Asn27Ser
NM_001293195.1:c.356A>G NP_001280124.1:p.Asn119Ser
NM_001293195.2:c.356A>G NP_001280124.1:p.Asn119Ser
NM_001293196.1:c.80A>G NP_001280125.1:p.Asn27Ser
NM_001293196.2:c.80A>G NP_001280125.1:p.Asn27Ser
NM_001350650.1:c.34-160A>G NP_001337579.1:n.34-160A>G
NM_001350650.2:c.34-160A>G NP_001337579.1:n.34-160A>G
NM_001350651.1:c.34-160A>G NP_001337580.1:n.34-160A>G
NM_001350651.2:c.34-160A>G NP_001337580.1:n.34-160A>G
NM_012222.2:c.431A>G NP_036354.1:p.Asn144Ser
NM_012222.3:c.431A>G NP_036354.1:p.Asn144Ser
NR_146882.1:n.614A>G
NR_146882.2:n.584A>G
NR_146883.1:n.451-160A>G
NR_146883.2:n.456-160A>G
ENST00000354383.10:c.359A>G ENSP00000346354.6:p.Asn120Ser
ENST00000355498.6:c.356A>G ENSP00000347685.2:p.Asn119Ser
ENST00000372098.7:c.431A>G ENSP00000361170.3:p.Asn144Ser
ENST00000372104.5:c.356A>G ENSP00000361176.1:p.Asn119Ser
ENST00000372110.7:c.401A>G ENSP00000361182.3:p.Asn134Ser
ENST00000372115.7:c.398A>G ENSP00000361187.3:p.Asn133Ser
ENST00000412971.5:c.37-285A>G ENSP00000410263.1:n.37-285A>G
ENST00000412971.6:c.37-285A>G ENSP00000410263.2:n.37-285A>G
ENST00000435155.1:c.389A>G ENSP00000403655.1:p.Asn130Ser
ENST00000435155.2:c.389A>G ENSP00000403655.2:p.Asn130Ser
ENST00000448481.5:c.389A>G ENSP00000409718.1:p.Asn130Ser
ENST00000450313.5:c.440A>G ENSP00000408176.1:p.Asn147Ser
ENST00000450313.6:c.389-160A>G ENSP00000408176.2:n.389-160A>G
ENST00000456914.6:c.356A>G ENSP00000407590.2:p.Asn119Ser
ENST00000461495.5:c.*118-160A>G ENSP00000437166.1:n.*118-160A>G
ENST00000461495.6:c.*118-160A>G ENSP00000437166.1:n.*118-160A>G
ENST00000462387.5:n.541A>G
ENST00000467459.6:c.356A>G ENSP00000435889.2:p.Asn119Ser
ENST00000467940.5:c.*279A>G ENSP00000436478.1:n.*279A>G
ENST00000470256.5:c.307+166A>G ENSP00000434985.1:n.307+166A>G
ENST00000474703.1:n.511A>G
ENST00000475516.5:c.*169A>G ENSP00000433843.1:n.*169A>G
ENST00000476789.5:n.576A>G
ENST00000478796.5:n.206A>G
ENST00000479746.6:n.419A>G
ENST00000481139.5:n.609A>G
ENST00000481571.5:c.*169A>G ENSP00000436597.1:n.*169A>G
ENST00000483127.2:c.374A>G ENSP00000436469.2:p.Asn125Ser
ENST00000483642.5:n.651A>G
ENST00000485271.6:c.356A>G ENSP00000431264.2:p.Asn119Ser
ENST00000485484.5:n.520A>G
ENST00000488731.6:c.116-285A>G ENSP00000432330.1:n.116-285A>G
ENST00000492494.5:n.533A>G
ENST00000525160.5:c.*30-160A>G ENSP00000431568.1:n.*30-160A>G
ENST00000528013.6:c.398A>G ENSP00000433130.2:p.Asn133Ser
ENST00000529892.6:c.398A>G ENSP00000432528.2:p.Asn133Ser
ENST00000529984.5:c.116-285A>G ENSP00000437093.1:n.116-285A>G
ENST00000531105.5:c.115+1272A>G ENSP00000431292.1:n.115+1272A>G
ENST00000533178.5:c.122-432A>G ENSP00000436430.1:n.122-432A>G
ENST00000533178.6:c.116-432A>G ENSP00000436430.2:n.116-432A>G
ENST00000671856.1:n.325-160A>G
ENST00000671898.1:c.944A>G ENSP00000499896.1:p.Asn315Ser
ENST00000672011.1:c.347-160A>G ENSP00000500418.1:n.347-160A>G
ENST00000672314.1:c.356A>G ENSP00000500828.1:p.Asn119Ser
ENST00000672314.2:c.356A>G ENSP00000500828.2:p.Asn119Ser
ENST00000672593.1:c.*169A>G ENSP00000500455.1:n.*169A>G
ENST00000672764.1:c.338-160A>G ENSP00000500886.1:n.338-160A>G
ENST00000672818.2:c.431A>G ENSP00000500891.1:p.Asn144Ser
ENST00000672818.3:c.431A>G ENSP00000500891.1:p.Asn144Ser
ENST00000673134.1:c.*117+166A>G ENSP00000500526.1:n.*117+166A>G
ENST00000674679.1:c.384A>G ENSP00000501623.1:n.384A>G
ENST00000674679.2:c.*268A>G ENSP00000501623.2:n.*268A>G
XM_011541497.1:c.416A>G XP_011539799.1:p.Asn139Ser
XM_011541497.3:c.416A>G XP_011539799.1:p.Asn139Ser
XM_011541498.1:c.398A>G XP_011539800.1:p.Asn133Ser
XM_011541499.1:c.398A>G XP_011539801.1:p.Asn133Ser
XM_011541500.1:c.398A>G XP_011539802.1:p.Asn133Ser
XM_011541500.3:c.398A>G XP_011539802.1:p.Asn133Ser
XM_011541501.1:c.398A>G XP_011539803.1:p.Asn133Ser
XM_011541501.2:c.398A>G XP_011539803.1:p.Asn133Ser
XM_011541502.1:c.398A>G XP_011539804.1:p.Asn133Ser
XM_011541502.2:c.398A>G XP_011539804.1:p.Asn133Ser
XM_011541503.1:c.440A>G XP_011539805.1:p.Asn147Ser
XM_011541503.2:c.440A>G XP_011539805.1:p.Asn147Ser
XM_011541504.1:c.389A>G XP_011539806.1:p.Asn130Ser
XM_011541504.2:c.389A>G XP_011539806.1:p.Asn130Ser
XM_011541505.1:c.43-285A>G XP_011539807.1:n.43-285A>G
XM_011541505.2:c.43-285A>G XP_011539807.1:n.43-285A>G
XM_011541506.1:c.43-285A>G XP_011539808.1:n.43-285A>G
XM_011541506.2:c.43-285A>G XP_011539808.1:n.43-285A>G
XM_011541507.1:c.33+166A>G XP_011539809.1:n.33+166A>G
XM_011541508.1:c.7-160A>G XP_011539810.1:n.7-160A>G
XM_017001331.1:c.398A>G XP_016856820.1:p.Asn133Ser
XM_017001332.1:c.398A>G XP_016856821.1:p.Asn133Ser
XM_017001333.1:c.398A>G XP_016856822.1:p.Asn133Ser
XM_017001334.1:c.359A>G XP_016856823.1:p.Asn120Ser
XM_017001335.1:c.80A>G XP_016856824.1:p.Asn27Ser
XM_017001336.1:c.34-160A>G XP_016856825.1:n.34-160A>G
XM_017001337.1:c.34-160A>G XP_016856826.1:n.34-160A>G
XM_024447244.1:c.34-160A>G XP_024303012.1:n.34-160A>G
XM_024447245.1:c.34-160A>G XP_024303013.1:n.34-160A>G
XM_024447248.1:c.33+166A>G XP_024303016.1:n.33+166A>G
XM_024447249.1:c.-298A>G XP_024303017.1:n.-298A>G
XM_024447250.1:c.-298A>G XP_024303018.1:n.-298A>G
XM_024447251.1:c.-221-160A>G XP_024303019.1:n.-221-160A>G
XR_001737190.1:n.401A>G
XR_001737192.1:n.277+166A>G
XR_002956643.1:n.457+166A>G
XR_002956644.1:n.708A>G
XR_946658.1:n.487A>G
XR_946658.2:n.501A>G
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