Canonical Allele Identifier: CA340134440

Gene: MUTYH

Linked Data

• MyVariant Identifiers: chr1:g.45797881C>G (hg19) ; chr1:g.45332209C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332209C>G , CM000663.2:g.45332209C>G	GRCh38
NC_000001.10:g.45797881C>G , CM000663.1:g.45797881C>G	GRCh37
NC_000001.9:g.45570468C>G	NCBI36
NG_008189.1:g.13262G>C , LRG_220:g.13262G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.422G>C	ENSP00000410263.2:p.Cys141Ser
ENST00000435155.2:c.839G>C	ENSP00000403655.2:p.Cys280Ser
ENST00000467459.6:c.806G>C	ENSP00000435889.2:p.Cys269Ser
ENST00000483127.2:c.824G>C	ENSP00000436469.2:p.Cys275Ser
ENST00000485271.6:c.806G>C	ENSP00000431264.2:p.Cys269Ser
ENST00000529892.6:c.848G>C	ENSP00000432528.2:p.Cys283Ser
ENST00000533178.6:c.*135G>C	ENSP00000436430.2:n.*135G>C
ENST00000672314.2:c.806G>C	ENSP00000500828.2:p.Cys269Ser
ENST00000674679.2:c.*718G>C	ENSP00000501623.2:n.*718G>C
ENST00000710952.2:c.890G>C MANE Plus Clinical	ENSP00000518552.2:p.Cys297Ser
ENST00000672818.3:c.881G>C	ENSP00000500891.1:p.Cys294Ser
ENST00000450313.6:c.*135G>C	ENSP00000408176.2:n.*135G>C
ENST00000456914.7:c.806G>C MANE Select	ENSP00000407590.2:p.Cys269Ser
ENST00000461495.6:c.*545G>C	ENSP00000437166.1:n.*545G>C
ENST00000671898.1:c.1394G>C	ENSP00000499896.1:p.Cys465Ser
ENST00000672011.1:c.*135G>C	ENSP00000500418.1:n.*135G>C
ENST00000672314.1:c.806G>C	ENSP00000500828.1:p.Cys269Ser
ENST00000672593.1:c.*859G>C	ENSP00000500455.1:n.*859G>C
ENST00000672764.1:c.*135G>C	ENSP00000500886.1:n.*135G>C
ENST00000672818.2:c.881G>C	ENSP00000500891.1:p.Cys294Ser
ENST00000673134.1:c.*503G>C	ENSP00000500526.1:n.*503G>C
ENST00000674679.1:c.834G>C	ENSP00000501623.1:n.834G>C
ENST00000354383.10:c.809G>C	ENSP00000346354.6:p.Cys270Ser
ENST00000355498.6:c.806G>C	ENSP00000347685.2:p.Cys269Ser
ENST00000372098.7:c.881G>C	ENSP00000361170.3:p.Cys294Ser
ENST00000372104.5:c.806G>C	ENSP00000361176.1:p.Cys269Ser
ENST00000372110.7:c.851G>C	ENSP00000361182.3:p.Cys284Ser
ENST00000372115.7:c.848G>C	ENSP00000361187.3:p.Cys283Ser
ENST00000412971.5:c.422G>C	ENSP00000410263.1:p.Cys141Ser
ENST00000435155.1:c.839G>C	ENSP00000403655.1:p.Cys280Ser
ENST00000448481.5:c.839G>C	ENSP00000409718.1:p.Cys280Ser
ENST00000450313.5:c.890G>C	ENSP00000408176.1:p.Cys297Ser
ENST00000456914.6:c.806G>C	ENSP00000407590.2:p.Cys269Ser
ENST00000461495.5:c.*545G>C	ENSP00000437166.1:n.*545G>C
ENST00000462388.5:n.497G>C
ENST00000466231.1:n.171G>C
ENST00000467459.5:c.200G>C	ENSP00000435889.1:p.Cys67Ser
ENST00000470256.5:c.*135G>C	ENSP00000434985.1:n.*135G>C
ENST00000475516.5:c.*619G>C	ENSP00000433843.1:n.*619G>C
ENST00000481571.5:c.*619G>C	ENSP00000436597.1:n.*619G>C
ENST00000488731.6:c.187+554G>C	ENSP00000432330.1:n.187+554G>C
ENST00000528013.6:c.848G>C	ENSP00000433130.2:p.Cys283Ser
ENST00000529892.5:c.70G>C
ENST00000529984.5:c.187+554G>C	ENSP00000437093.1:n.187+554G>C
ENST00000531105.5:c.115+2182G>C	ENSP00000431292.1:n.115+2182G>C
ENST00000533178.5:c.435G>C	ENSP00000436430.1:n.435G>C
NM_001048171.1:c.848G>C	NP_001041636.1:p.Cys283Ser
NM_001048172.1:c.809G>C	NP_001041637.1:p.Cys270Ser
NM_001048173.1:c.806G>C	NP_001041638.1:p.Cys269Ser
NM_001048174.1:c.806G>C	NP_001041639.1:p.Cys269Ser
NM_001128425.1:c.890G>C , LRG_220t1:c.890G>C	NP_001121897.1:p.Cys297Ser
NM_001293190.1:c.851G>C	NP_001280119.1:p.Cys284Ser
NM_001293191.1:c.839G>C	NP_001280120.1:p.Cys280Ser
NM_001293192.1:c.530G>C	NP_001280121.1:p.Cys177Ser
NM_001293195.1:c.806G>C	NP_001280124.1:p.Cys269Ser
NM_001293196.1:c.530G>C	NP_001280125.1:p.Cys177Ser
NM_012222.2:c.881G>C	NP_036354.1:p.Cys294Ser
XM_011541497.1:c.866G>C	XP_011539799.1:p.Cys289Ser
XM_011541498.1:c.848G>C	XP_011539800.1:p.Cys283Ser
XM_011541499.1:c.848G>C	XP_011539801.1:p.Cys283Ser
XM_011541500.1:c.848G>C	XP_011539802.1:p.Cys283Ser
XM_011541501.1:c.848G>C	XP_011539803.1:p.Cys283Ser
XM_011541502.1:c.848G>C	XP_011539804.1:p.Cys283Ser
XM_011541503.1:c.848G>C	XP_011539805.1:p.Cys283Ser
XM_011541504.1:c.839G>C	XP_011539806.1:p.Cys280Ser
XM_011541505.1:c.428G>C	XP_011539807.1:p.Cys143Ser
XM_011541506.1:c.428G>C	XP_011539808.1:p.Cys143Ser
XM_011541507.1:c.419G>C	XP_011539809.1:p.Cys140Ser
XM_011541508.1:c.434G>C	XP_011539810.1:p.Cys145Ser
XR_946658.1:n.937G>C
NM_001350650.1:c.461G>C	NP_001337579.1:p.Cys154Ser
NM_001350651.1:c.461G>C	NP_001337580.1:p.Cys154Ser
NR_146882.1:n.1064G>C
NR_146883.1:n.878G>C
XM_011541497.3:c.866G>C	XP_011539799.1:p.Cys289Ser
XM_011541500.3:c.848G>C	XP_011539802.1:p.Cys283Ser
XM_011541501.2:c.848G>C	XP_011539803.1:p.Cys283Ser
XM_011541502.2:c.848G>C	XP_011539804.1:p.Cys283Ser
XM_011541503.2:c.848G>C	XP_011539805.1:p.Cys283Ser
XM_011541504.2:c.839G>C	XP_011539806.1:p.Cys280Ser
XM_011541505.2:c.428G>C	XP_011539807.1:p.Cys143Ser
XM_011541506.2:c.428G>C	XP_011539808.1:p.Cys143Ser
XM_017001331.1:c.848G>C	XP_016856820.1:p.Cys283Ser
XM_017001332.1:c.848G>C	XP_016856821.1:p.Cys283Ser
XM_017001333.1:c.848G>C	XP_016856822.1:p.Cys283Ser
XM_017001334.1:c.809G>C	XP_016856823.1:p.Cys270Ser
XM_017001335.1:c.530G>C	XP_016856824.1:p.Cys177Ser
XM_017001336.1:c.461G>C	XP_016856825.1:p.Cys154Ser
XM_017001337.1:c.461G>C	XP_016856826.1:p.Cys154Ser
XM_024447244.1:c.461G>C	XP_024303012.1:p.Cys154Ser
XM_024447245.1:c.461G>C	XP_024303013.1:p.Cys154Ser
XM_024447248.1:c.419G>C	XP_024303016.1:p.Cys140Ser
XM_024447249.1:c.290G>C	XP_024303017.1:p.Cys97Ser
XM_024447250.1:c.290G>C	XP_024303018.1:p.Cys97Ser
XM_024447251.1:c.290G>C	XP_024303019.1:p.Cys97Ser
XR_001737190.1:n.851G>C
XR_001737192.1:n.663G>C
XR_002956643.1:n.843G>C
XR_002956644.1:n.1378G>C
XR_946658.2:n.951G>C
NM_001048171.2:c.806G>C	NP_001041636.2:p.Cys269Ser
NM_001128425.2:c.890G>C MANE Plus Clinical	NP_001121897.1:p.Cys297Ser
NM_001048172.2:c.809G>C	NP_001041637.1:p.Cys270Ser
NM_001048173.2:c.806G>C	NP_001041638.1:p.Cys269Ser
NM_001048174.2:c.806G>C MANE Select	NP_001041639.1:p.Cys269Ser
NM_001293190.2:c.851G>C	NP_001280119.1:p.Cys284Ser
NM_001293191.2:c.839G>C	NP_001280120.1:p.Cys280Ser
NM_001293192.2:c.530G>C	NP_001280121.1:p.Cys177Ser
NM_001293195.2:c.806G>C	NP_001280124.1:p.Cys269Ser
NM_001293196.2:c.530G>C	NP_001280125.1:p.Cys177Ser
NM_001350650.2:c.461G>C	NP_001337579.1:p.Cys154Ser
NM_001350651.2:c.461G>C	NP_001337580.1:p.Cys154Ser
NM_012222.3:c.881G>C	NP_036354.1:p.Cys294Ser
NR_146882.2:n.1034G>C
NR_146883.2:n.883G>C