Canonical Allele Identifier: CA340135355

Gene: MUTYH

Linked Data

• MyVariant Identifiers: chr1:g.45798301A>C (hg19) ; chr1:g.45332629A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332629A>C , CM000663.2:g.45332629A>C	GRCh38
NC_000001.10:g.45798301A>C , CM000663.1:g.45798301A>C	GRCh37
NC_000001.9:g.45570888A>C	NCBI36
NG_008189.1:g.12842T>G , LRG_220:g.12842T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.167T>G	ENSP00000410263.2:p.Leu56Arg
ENST00000435155.2:c.584T>G	ENSP00000403655.2:p.Leu195Arg
ENST00000467459.6:c.551T>G	ENSP00000435889.2:p.Leu184Arg
ENST00000483127.2:c.569T>G	ENSP00000436469.2:p.Leu190Arg
ENST00000485271.6:c.551T>G	ENSP00000431264.2:p.Leu184Arg
ENST00000529892.6:c.593T>G	ENSP00000432528.2:p.Leu198Arg
ENST00000533178.6:c.174T>G	ENSP00000436430.2:p.Pro58=
ENST00000672314.2:c.551T>G	ENSP00000500828.2:p.Leu184Arg
ENST00000674679.2:c.*463T>G	ENSP00000501623.2:n.*463T>G
ENST00000710952.2:c.635T>G MANE Plus Clinical	ENSP00000518552.2:p.Leu212Arg
ENST00000672818.3:c.626T>G	ENSP00000500891.1:p.Leu209Arg
ENST00000450313.6:c.561T>G	ENSP00000408176.2:p.Pro187=
ENST00000456914.7:c.551T>G MANE Select	ENSP00000407590.2:p.Leu184Arg
ENST00000461495.6:c.*290T>G	ENSP00000437166.1:n.*290T>G
ENST00000671856.1:n.497T>G
ENST00000671898.1:c.1139T>G	ENSP00000499896.1:p.Leu380Arg
ENST00000672011.1:c.519T>G	ENSP00000500418.1:p.Pro173=
ENST00000672314.1:c.551T>G	ENSP00000500828.1:p.Leu184Arg
ENST00000672593.1:c.*439T>G	ENSP00000500455.1:n.*439T>G
ENST00000672764.1:c.510T>G	ENSP00000500886.1:p.Pro170=
ENST00000672818.2:c.626T>G	ENSP00000500891.1:p.Leu209Arg
ENST00000673134.1:c.*248T>G	ENSP00000500526.1:n.*248T>G
ENST00000674679.1:c.579T>G	ENSP00000501623.1:n.579T>G
ENST00000354383.10:c.554T>G	ENSP00000346354.6:p.Leu185Arg
ENST00000355498.6:c.551T>G	ENSP00000347685.2:p.Leu184Arg
ENST00000372098.7:c.626T>G	ENSP00000361170.3:p.Leu209Arg
ENST00000372104.5:c.551T>G	ENSP00000361176.1:p.Leu184Arg
ENST00000372110.7:c.596T>G	ENSP00000361182.3:p.Leu199Arg
ENST00000372115.7:c.593T>G	ENSP00000361187.3:p.Leu198Arg
ENST00000412971.5:c.167T>G	ENSP00000410263.1:p.Leu56Arg
ENST00000435155.1:c.584T>G	ENSP00000403655.1:p.Leu195Arg
ENST00000448481.5:c.584T>G	ENSP00000409718.1:p.Leu195Arg
ENST00000450313.5:c.635T>G	ENSP00000408176.1:p.Leu212Arg
ENST00000456914.6:c.551T>G	ENSP00000407590.2:p.Leu184Arg
ENST00000461495.5:c.*290T>G	ENSP00000437166.1:n.*290T>G
ENST00000462388.5:n.242T>G
ENST00000467940.5:c.*474T>G	ENSP00000436478.1:n.*474T>G
ENST00000470256.5:c.438T>G	ENSP00000434985.1:p.Pro146=
ENST00000475516.5:c.*364T>G	ENSP00000433843.1:n.*364T>G
ENST00000478796.5:n.538T>G
ENST00000479746.6:n.909T>G
ENST00000481571.5:c.*364T>G	ENSP00000436597.1:n.*364T>G
ENST00000483642.5:n.1066T>G
ENST00000488731.6:c.187+134T>G	ENSP00000432330.1:n.187+134T>G
ENST00000492494.5:n.948T>G
ENST00000525160.5:c.*202T>G	ENSP00000431568.1:n.*202T>G
ENST00000528013.6:c.593T>G	ENSP00000433130.2:p.Leu198Arg
ENST00000529984.5:c.187+134T>G	ENSP00000437093.1:n.187+134T>G
ENST00000531105.5:c.115+1762T>G	ENSP00000431292.1:n.115+1762T>G
ENST00000533178.5:c.180T>G	ENSP00000436430.1:p.Pro60=
NM_001048171.1:c.593T>G	NP_001041636.1:p.Leu198Arg
NM_001048172.1:c.554T>G	NP_001041637.1:p.Leu185Arg
NM_001048173.1:c.551T>G	NP_001041638.1:p.Leu184Arg
NM_001048174.1:c.551T>G	NP_001041639.1:p.Leu184Arg
NM_001128425.1:c.635T>G , LRG_220t1:c.635T>G	NP_001121897.1:p.Leu212Arg
NM_001293190.1:c.596T>G	NP_001280119.1:p.Leu199Arg
NM_001293191.1:c.584T>G	NP_001280120.1:p.Leu195Arg
NM_001293192.1:c.275T>G	NP_001280121.1:p.Leu92Arg
NM_001293195.1:c.551T>G	NP_001280124.1:p.Leu184Arg
NM_001293196.1:c.275T>G	NP_001280125.1:p.Leu92Arg
NM_012222.2:c.626T>G	NP_036354.1:p.Leu209Arg
XM_011541497.1:c.611T>G	XP_011539799.1:p.Leu204Arg
XM_011541498.1:c.593T>G	XP_011539800.1:p.Leu198Arg
XM_011541499.1:c.593T>G	XP_011539801.1:p.Leu198Arg
XM_011541500.1:c.593T>G	XP_011539802.1:p.Leu198Arg
XM_011541501.1:c.593T>G	XP_011539803.1:p.Leu198Arg
XM_011541502.1:c.593T>G	XP_011539804.1:p.Leu198Arg
XM_011541503.1:c.593T>G	XP_011539805.1:p.Leu198Arg
XM_011541504.1:c.584T>G	XP_011539806.1:p.Leu195Arg
XM_011541505.1:c.173T>G	XP_011539807.1:p.Leu58Arg
XM_011541506.1:c.173T>G	XP_011539808.1:p.Leu58Arg
XM_011541507.1:c.164T>G	XP_011539809.1:p.Leu55Arg
XM_011541508.1:c.179T>G	XP_011539810.1:p.Leu60Arg
XR_946658.1:n.682T>G
NM_001350650.1:c.206T>G	NP_001337579.1:p.Leu69Arg
NM_001350651.1:c.206T>G	NP_001337580.1:p.Leu69Arg
NR_146882.1:n.809T>G
NR_146883.1:n.623T>G
XM_011541497.3:c.611T>G	XP_011539799.1:p.Leu204Arg
XM_011541500.3:c.593T>G	XP_011539802.1:p.Leu198Arg
XM_011541501.2:c.593T>G	XP_011539803.1:p.Leu198Arg
XM_011541502.2:c.593T>G	XP_011539804.1:p.Leu198Arg
XM_011541503.2:c.593T>G	XP_011539805.1:p.Leu198Arg
XM_011541504.2:c.584T>G	XP_011539806.1:p.Leu195Arg
XM_011541505.2:c.173T>G	XP_011539807.1:p.Leu58Arg
XM_011541506.2:c.173T>G	XP_011539808.1:p.Leu58Arg
XM_017001331.1:c.593T>G	XP_016856820.1:p.Leu198Arg
XM_017001332.1:c.593T>G	XP_016856821.1:p.Leu198Arg
XM_017001333.1:c.593T>G	XP_016856822.1:p.Leu198Arg
XM_017001334.1:c.554T>G	XP_016856823.1:p.Leu185Arg
XM_017001335.1:c.275T>G	XP_016856824.1:p.Leu92Arg
XM_017001336.1:c.206T>G	XP_016856825.1:p.Leu69Arg
XM_017001337.1:c.206T>G	XP_016856826.1:p.Leu69Arg
XM_024447244.1:c.206T>G	XP_024303012.1:p.Leu69Arg
XM_024447245.1:c.206T>G	XP_024303013.1:p.Leu69Arg
XM_024447248.1:c.164T>G	XP_024303016.1:p.Leu55Arg
XM_024447249.1:c.35T>G	XP_024303017.1:p.Leu12Arg
XM_024447250.1:c.35T>G	XP_024303018.1:p.Leu12Arg
XM_024447251.1:c.35T>G	XP_024303019.1:p.Leu12Arg
XR_001737190.1:n.596T>G
XR_001737192.1:n.408T>G
XR_002956643.1:n.588T>G
XR_002956644.1:n.1123T>G
XR_946658.2:n.696T>G
NM_001048171.2:c.551T>G	NP_001041636.2:p.Leu184Arg
NM_001128425.2:c.635T>G MANE Plus Clinical	NP_001121897.1:p.Leu212Arg
NM_001048172.2:c.554T>G	NP_001041637.1:p.Leu185Arg
NM_001048173.2:c.551T>G	NP_001041638.1:p.Leu184Arg
NM_001048174.2:c.551T>G MANE Select	NP_001041639.1:p.Leu184Arg
NM_001293190.2:c.596T>G	NP_001280119.1:p.Leu199Arg
NM_001293191.2:c.584T>G	NP_001280120.1:p.Leu195Arg
NM_001293192.2:c.275T>G	NP_001280121.1:p.Leu92Arg
NM_001293195.2:c.551T>G	NP_001280124.1:p.Leu184Arg
NM_001293196.2:c.275T>G	NP_001280125.1:p.Leu92Arg
NM_001350650.2:c.206T>G	NP_001337579.1:p.Leu69Arg
NM_001350651.2:c.206T>G	NP_001337580.1:p.Leu69Arg
NM_012222.3:c.626T>G	NP_036354.1:p.Leu209Arg
NR_146882.2:n.779T>G
NR_146883.2:n.628T>G