Canonical Allele Identifier: CA340135959

Gene: MUTYH

Linked Data

• MyVariant Identifiers: chr1:g.45798609A>G (hg19) ; chr1:g.45332937A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332937A>G , CM000663.2:g.45332937A>G	GRCh38
NC_000001.10:g.45798609A>G , CM000663.1:g.45798609A>G	GRCh37
NC_000001.9:g.45571196A>G	NCBI36
NG_008189.1:g.12534T>C , LRG_220:g.12534T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.37-103T>C	ENSP00000410263.2:n.37-103T>C
ENST00000435155.2:c.434T>C	ENSP00000403655.2:p.Leu145Pro
ENST00000467459.6:c.401T>C	ENSP00000435889.2:p.Leu134Pro
ENST00000483127.2:c.419T>C	ENSP00000436469.2:p.Leu140Pro
ENST00000485271.6:c.401T>C	ENSP00000431264.2:p.Leu134Pro
ENST00000529892.6:c.443T>C	ENSP00000432528.2:p.Leu148Pro
ENST00000533178.6:c.116-250T>C	ENSP00000436430.2:n.116-250T>C
ENST00000672314.2:c.401T>C	ENSP00000500828.2:p.Leu134Pro
ENST00000674679.2:c.*313T>C	ENSP00000501623.2:n.*313T>C
ENST00000710952.2:c.485T>C MANE Plus Clinical	ENSP00000518552.2:p.Leu162Pro
ENST00000672818.3:c.476T>C	ENSP00000500891.1:p.Leu159Pro
ENST00000450313.6:c.411T>C	ENSP00000408176.2:p.Pro137=
ENST00000456914.7:c.401T>C MANE Select	ENSP00000407590.2:p.Leu134Pro
ENST00000461495.6:c.*140T>C	ENSP00000437166.1:n.*140T>C
ENST00000671856.1:n.347T>C
ENST00000671898.1:c.989T>C	ENSP00000499896.1:p.Leu330Pro
ENST00000672011.1:c.369T>C	ENSP00000500418.1:p.Pro123=
ENST00000672314.1:c.401T>C	ENSP00000500828.1:p.Leu134Pro
ENST00000672593.1:c.*214T>C	ENSP00000500455.1:n.*214T>C
ENST00000672764.1:c.360T>C	ENSP00000500886.1:p.Pro120=
ENST00000672818.2:c.476T>C	ENSP00000500891.1:p.Leu159Pro
ENST00000673134.1:c.*118-103T>C	ENSP00000500526.1:n.*118-103T>C
ENST00000674679.1:c.429T>C	ENSP00000501623.1:n.429T>C
ENST00000354383.10:c.404T>C	ENSP00000346354.6:p.Leu135Pro
ENST00000355498.6:c.401T>C	ENSP00000347685.2:p.Leu134Pro
ENST00000372098.7:c.476T>C	ENSP00000361170.3:p.Leu159Pro
ENST00000372104.5:c.401T>C	ENSP00000361176.1:p.Leu134Pro
ENST00000372110.7:c.446T>C	ENSP00000361182.3:p.Leu149Pro
ENST00000372115.7:c.443T>C	ENSP00000361187.3:p.Leu148Pro
ENST00000412971.5:c.37-103T>C	ENSP00000410263.1:n.37-103T>C
ENST00000435155.1:c.434T>C	ENSP00000403655.1:p.Leu145Pro
ENST00000448481.5:c.434T>C	ENSP00000409718.1:p.Leu145Pro
ENST00000450313.5:c.485T>C	ENSP00000408176.1:p.Leu162Pro
ENST00000456914.6:c.401T>C	ENSP00000407590.2:p.Leu134Pro
ENST00000461495.5:c.*140T>C	ENSP00000437166.1:n.*140T>C
ENST00000462387.5:n.723T>C
ENST00000462388.5:n.9T>C
ENST00000467940.5:c.*324T>C	ENSP00000436478.1:n.*324T>C
ENST00000470256.5:c.308-103T>C	ENSP00000434985.1:n.308-103T>C
ENST00000475516.5:c.*214T>C	ENSP00000433843.1:n.*214T>C
ENST00000476789.5:n.758T>C
ENST00000478796.5:n.388T>C
ENST00000479746.6:n.601T>C
ENST00000481139.5:n.791T>C
ENST00000481571.5:c.*214T>C	ENSP00000436597.1:n.*214T>C
ENST00000483642.5:n.833T>C
ENST00000485484.5:n.702T>C
ENST00000488731.6:c.116-103T>C	ENSP00000432330.1:n.116-103T>C
ENST00000492494.5:n.715T>C
ENST00000525160.5:c.*52T>C	ENSP00000431568.1:n.*52T>C
ENST00000528013.6:c.443T>C	ENSP00000433130.2:p.Leu148Pro
ENST00000529984.5:c.116-103T>C	ENSP00000437093.1:n.116-103T>C
ENST00000531105.5:c.115+1454T>C	ENSP00000431292.1:n.115+1454T>C
ENST00000533178.5:c.122-250T>C	ENSP00000436430.1:n.122-250T>C
NM_001048171.1:c.443T>C	NP_001041636.1:p.Leu148Pro
NM_001048172.1:c.404T>C	NP_001041637.1:p.Leu135Pro
NM_001048173.1:c.401T>C	NP_001041638.1:p.Leu134Pro
NM_001048174.1:c.401T>C	NP_001041639.1:p.Leu134Pro
NM_001128425.1:c.485T>C , LRG_220t1:c.485T>C	NP_001121897.1:p.Leu162Pro
NM_001293190.1:c.446T>C	NP_001280119.1:p.Leu149Pro
NM_001293191.1:c.434T>C	NP_001280120.1:p.Leu145Pro
NM_001293192.1:c.125T>C	NP_001280121.1:p.Leu42Pro
NM_001293195.1:c.401T>C	NP_001280124.1:p.Leu134Pro
NM_001293196.1:c.125T>C	NP_001280125.1:p.Leu42Pro
NM_012222.2:c.476T>C	NP_036354.1:p.Leu159Pro
XM_011541497.1:c.461T>C	XP_011539799.1:p.Leu154Pro
XM_011541498.1:c.443T>C	XP_011539800.1:p.Leu148Pro
XM_011541499.1:c.443T>C	XP_011539801.1:p.Leu148Pro
XM_011541500.1:c.443T>C	XP_011539802.1:p.Leu148Pro
XM_011541501.1:c.443T>C	XP_011539803.1:p.Leu148Pro
XM_011541502.1:c.443T>C	XP_011539804.1:p.Leu148Pro
XM_011541503.1:c.463-103T>C	XP_011539805.1:n.463-103T>C
XM_011541504.1:c.434T>C	XP_011539806.1:p.Leu145Pro
XM_011541505.1:c.43-103T>C	XP_011539807.1:n.43-103T>C
XM_011541506.1:c.43-103T>C	XP_011539808.1:n.43-103T>C
XM_011541507.1:c.34-103T>C	XP_011539809.1:n.34-103T>C
XM_011541508.1:c.29T>C	XP_011539810.1:p.Leu10Pro
XR_946658.1:n.532T>C
NM_001350650.1:c.56T>C	NP_001337579.1:p.Leu19Pro
NM_001350651.1:c.56T>C	NP_001337580.1:p.Leu19Pro
NR_146882.1:n.659T>C
NR_146883.1:n.473T>C
XM_011541497.3:c.461T>C	XP_011539799.1:p.Leu154Pro
XM_011541500.3:c.443T>C	XP_011539802.1:p.Leu148Pro
XM_011541501.2:c.443T>C	XP_011539803.1:p.Leu148Pro
XM_011541502.2:c.443T>C	XP_011539804.1:p.Leu148Pro
XM_011541503.2:c.463-103T>C	XP_011539805.1:n.463-103T>C
XM_011541504.2:c.434T>C	XP_011539806.1:p.Leu145Pro
XM_011541505.2:c.43-103T>C	XP_011539807.1:n.43-103T>C
XM_011541506.2:c.43-103T>C	XP_011539808.1:n.43-103T>C
XM_017001331.1:c.443T>C	XP_016856820.1:p.Leu148Pro
XM_017001332.1:c.443T>C	XP_016856821.1:p.Leu148Pro
XM_017001333.1:c.443T>C	XP_016856822.1:p.Leu148Pro
XM_017001334.1:c.404T>C	XP_016856823.1:p.Leu135Pro
XM_017001335.1:c.125T>C	XP_016856824.1:p.Leu42Pro
XM_017001336.1:c.56T>C	XP_016856825.1:p.Leu19Pro
XM_017001337.1:c.56T>C	XP_016856826.1:p.Leu19Pro
XM_024447244.1:c.56T>C	XP_024303012.1:p.Leu19Pro
XM_024447245.1:c.56T>C	XP_024303013.1:p.Leu19Pro
XM_024447248.1:c.34-103T>C	XP_024303016.1:n.34-103T>C
XM_024447249.1:c.-116T>C	XP_024303017.1:n.-116T>C
XM_024447250.1:c.-116T>C	XP_024303018.1:n.-116T>C
XM_024447251.1:c.-199T>C	XP_024303019.1:n.-199T>C
XR_001737190.1:n.446T>C
XR_001737192.1:n.278-103T>C
XR_002956643.1:n.458-103T>C
XR_002956644.1:n.890T>C
XR_946658.2:n.546T>C
NM_001048171.2:c.401T>C	NP_001041636.2:p.Leu134Pro
NM_001128425.2:c.485T>C MANE Plus Clinical	NP_001121897.1:p.Leu162Pro
NM_001048172.2:c.404T>C	NP_001041637.1:p.Leu135Pro
NM_001048173.2:c.401T>C	NP_001041638.1:p.Leu134Pro
NM_001048174.2:c.401T>C MANE Select	NP_001041639.1:p.Leu134Pro
NM_001293190.2:c.446T>C	NP_001280119.1:p.Leu149Pro
NM_001293191.2:c.434T>C	NP_001280120.1:p.Leu145Pro
NM_001293192.2:c.125T>C	NP_001280121.1:p.Leu42Pro
NM_001293195.2:c.401T>C	NP_001280124.1:p.Leu134Pro
NM_001293196.2:c.125T>C	NP_001280125.1:p.Leu42Pro
NM_001350650.2:c.56T>C	NP_001337579.1:p.Leu19Pro
NM_001350651.2:c.56T>C	NP_001337580.1:p.Leu19Pro
NM_012222.3:c.476T>C	NP_036354.1:p.Leu159Pro
NR_146882.2:n.629T>C
NR_146883.2:n.478T>C