Canonical Allele Identifier: CA2473712827

Gene: MUTYH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332630G= , CM000663.2:g.45332630G=	GRCh38
NC_000001.10:g.45798302G= , CM000663.1:g.45798302G=	GRCh37
NC_000001.9:g.45570889G=	NCBI36
NG_008189.1:g.12841C= , LRG_220:g.12841C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.166C=	ENSP00000410263.2:p.Leu56=
ENST00000435155.2:c.583C=	ENSP00000403655.2:p.Leu195=
ENST00000467459.6:c.550C=	ENSP00000435889.2:p.Leu184=
ENST00000483127.2:c.568C=	ENSP00000436469.2:p.Leu190=
ENST00000485271.6:c.550C=	ENSP00000431264.2:p.Leu184=
ENST00000529892.6:c.592C=	ENSP00000432528.2:p.Leu198=
ENST00000533178.6:c.173C=	ENSP00000436430.2:p.Pro58=
ENST00000672314.2:c.550C=	ENSP00000500828.2:p.Leu184=
ENST00000674679.2:c.*462C=	ENSP00000501623.2:n.*462C=
ENST00000710952.2:c.634C= MANE Plus Clinical	ENSP00000518552.2:p.Leu212=
ENST00000672818.3:c.625C=	ENSP00000500891.1:p.Leu209=
ENST00000450313.6:c.560C=	ENSP00000408176.2:p.Pro187=
ENST00000456914.7:c.550C= MANE Select	ENSP00000407590.2:p.Leu184=
ENST00000461495.6:c.*289C=	ENSP00000437166.1:n.*289C=
ENST00000671856.1:n.496C=
ENST00000671898.1:c.1138C=	ENSP00000499896.1:p.Leu380=
ENST00000672011.1:c.518C=	ENSP00000500418.1:p.Pro173=
ENST00000672314.1:c.550C=	ENSP00000500828.1:p.Leu184=
ENST00000672593.1:c.*438C=	ENSP00000500455.1:n.*438C=
ENST00000672764.1:c.509C=	ENSP00000500886.1:p.Pro170=
ENST00000672818.2:c.625C=	ENSP00000500891.1:p.Leu209=
ENST00000673134.1:c.*247C=	ENSP00000500526.1:n.*247C=
ENST00000674679.1:c.578C=	ENSP00000501623.1:n.578C=
ENST00000354383.10:c.553C=	ENSP00000346354.6:p.Leu185=
ENST00000355498.6:c.550C=	ENSP00000347685.2:p.Leu184=
ENST00000372098.7:c.625C=	ENSP00000361170.3:p.Leu209=
ENST00000372104.5:c.550C=	ENSP00000361176.1:p.Leu184=
ENST00000372110.7:c.595C=	ENSP00000361182.3:p.Leu199=
ENST00000372115.7:c.592C=	ENSP00000361187.3:p.Leu198=
ENST00000412971.5:c.166C=	ENSP00000410263.1:p.Leu56=
ENST00000435155.1:c.583C=	ENSP00000403655.1:p.Leu195=
ENST00000448481.5:c.583C=	ENSP00000409718.1:p.Leu195=
ENST00000450313.5:c.634C=	ENSP00000408176.1:p.Leu212=
ENST00000456914.6:c.550C=	ENSP00000407590.2:p.Leu184=
ENST00000461495.5:c.*289C=	ENSP00000437166.1:n.*289C=
ENST00000462388.5:n.241C=
ENST00000467940.5:c.*473C=	ENSP00000436478.1:n.*473C=
ENST00000470256.5:c.437C=	ENSP00000434985.1:p.Pro146=
ENST00000475516.5:c.*363C=	ENSP00000433843.1:n.*363C=
ENST00000478796.5:n.537C=
ENST00000479746.6:n.908C=
ENST00000481571.5:c.*363C=	ENSP00000436597.1:n.*363C=
ENST00000483642.5:n.1065C=
ENST00000488731.6:c.187+133C=	ENSP00000432330.1:n.187+133C=
ENST00000492494.5:n.947C=
ENST00000525160.5:c.*201C=	ENSP00000431568.1:n.*201C=
ENST00000528013.6:c.592C=	ENSP00000433130.2:p.Leu198=
ENST00000529984.5:c.187+133C=	ENSP00000437093.1:n.187+133C=
ENST00000531105.5:c.115+1761C=	ENSP00000431292.1:n.115+1761C=
ENST00000533178.5:c.179C=	ENSP00000436430.1:p.Pro60=
NM_001048171.1:c.592C=	NP_001041636.1:p.Leu198=
NM_001048172.1:c.553C=	NP_001041637.1:p.Leu185=
NM_001048173.1:c.550C=	NP_001041638.1:p.Leu184=
NM_001048174.1:c.550C=	NP_001041639.1:p.Leu184=
NM_001128425.1:c.634C= , LRG_220t1:c.634C=	NP_001121897.1:p.Leu212=
NM_001293190.1:c.595C=	NP_001280119.1:p.Leu199=
NM_001293191.1:c.583C=	NP_001280120.1:p.Leu195=
NM_001293192.1:c.274C=	NP_001280121.1:p.Leu92=
NM_001293195.1:c.550C=	NP_001280124.1:p.Leu184=
NM_001293196.1:c.274C=	NP_001280125.1:p.Leu92=
NM_012222.2:c.625C=	NP_036354.1:p.Leu209=
XM_011541497.1:c.610C=	XP_011539799.1:p.Leu204=
XM_011541498.1:c.592C=	XP_011539800.1:p.Leu198=
XM_011541499.1:c.592C=	XP_011539801.1:p.Leu198=
XM_011541500.1:c.592C=	XP_011539802.1:p.Leu198=
XM_011541501.1:c.592C=	XP_011539803.1:p.Leu198=
XM_011541502.1:c.592C=	XP_011539804.1:p.Leu198=
XM_011541503.1:c.592C=	XP_011539805.1:p.Leu198=
XM_011541504.1:c.583C=	XP_011539806.1:p.Leu195=
XM_011541505.1:c.172C=	XP_011539807.1:p.Leu58=
XM_011541506.1:c.172C=	XP_011539808.1:p.Leu58=
XM_011541507.1:c.163C=	XP_011539809.1:p.Leu55=
XM_011541508.1:c.178C=	XP_011539810.1:p.Leu60=
XR_946658.1:n.681C=
NM_001350650.1:c.205C=	NP_001337579.1:p.Leu69=
NM_001350651.1:c.205C=	NP_001337580.1:p.Leu69=
NR_146882.1:n.808C=
NR_146883.1:n.622C=
XM_011541497.3:c.610C=	XP_011539799.1:p.Leu204=
XM_011541500.3:c.592C=	XP_011539802.1:p.Leu198=
XM_011541501.2:c.592C=	XP_011539803.1:p.Leu198=
XM_011541502.2:c.592C=	XP_011539804.1:p.Leu198=
XM_011541503.2:c.592C=	XP_011539805.1:p.Leu198=
XM_011541504.2:c.583C=	XP_011539806.1:p.Leu195=
XM_011541505.2:c.172C=	XP_011539807.1:p.Leu58=
XM_011541506.2:c.172C=	XP_011539808.1:p.Leu58=
XM_017001331.1:c.592C=	XP_016856820.1:p.Leu198=
XM_017001332.1:c.592C=	XP_016856821.1:p.Leu198=
XM_017001333.1:c.592C=	XP_016856822.1:p.Leu198=
XM_017001334.1:c.553C=	XP_016856823.1:p.Leu185=
XM_017001335.1:c.274C=	XP_016856824.1:p.Leu92=
XM_017001336.1:c.205C=	XP_016856825.1:p.Leu69=
XM_017001337.1:c.205C=	XP_016856826.1:p.Leu69=
XM_024447244.1:c.205C=	XP_024303012.1:p.Leu69=
XM_024447245.1:c.205C=	XP_024303013.1:p.Leu69=
XM_024447248.1:c.163C=	XP_024303016.1:p.Leu55=
XM_024447249.1:c.34C=	XP_024303017.1:p.Leu12=
XM_024447250.1:c.34C=	XP_024303018.1:p.Leu12=
XM_024447251.1:c.34C=	XP_024303019.1:p.Leu12=
XR_001737190.1:n.595C=
XR_001737192.1:n.407C=
XR_002956643.1:n.587C=
XR_002956644.1:n.1122C=
XR_946658.2:n.695C=
NM_001048171.2:c.550C=	NP_001041636.2:p.Leu184=
NM_001128425.2:c.634C= MANE Plus Clinical	NP_001121897.1:p.Leu212=
NM_001048172.2:c.553C=	NP_001041637.1:p.Leu185=
NM_001048173.2:c.550C=	NP_001041638.1:p.Leu184=
NM_001048174.2:c.550C= MANE Select	NP_001041639.1:p.Leu184=
NM_001293190.2:c.595C=	NP_001280119.1:p.Leu199=
NM_001293191.2:c.583C=	NP_001280120.1:p.Leu195=
NM_001293192.2:c.274C=	NP_001280121.1:p.Leu92=
NM_001293195.2:c.550C=	NP_001280124.1:p.Leu184=
NM_001293196.2:c.274C=	NP_001280125.1:p.Leu92=
NM_001350650.2:c.205C=	NP_001337579.1:p.Leu69=
NM_001350651.2:c.205C=	NP_001337580.1:p.Leu69=
NM_012222.3:c.625C=	NP_036354.1:p.Leu209=
NR_146882.2:n.778C=
NR_146883.2:n.627C=