Canonical Allele Identifier: CA417880015

Gene: MUTYH

Linked Data

• MyVariant Identifiers: chr1:g.45798267A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332595A>T , CM000663.2:g.45332595A>T	GRCh38
NC_000001.10:g.45798267A>T , CM000663.1:g.45798267A>T	GRCh37
NC_000001.9:g.45570854A>T	NCBI36
NG_008189.1:g.12876T>A , LRG_220:g.12876T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.201T>A	ENSP00000410263.2:p.Ile67=
ENST00000435155.2:c.618T>A	ENSP00000403655.2:p.Ile206=
ENST00000467459.6:c.585T>A	ENSP00000435889.2:p.Ile195=
ENST00000483127.2:c.603T>A	ENSP00000436469.2:p.Ile201=
ENST00000485271.6:c.585T>A	ENSP00000431264.2:p.Ile195=
ENST00000529892.6:c.627T>A	ENSP00000432528.2:p.Ile209=
ENST00000533178.6:c.208T>A	ENSP00000436430.2:p.Cys70Ser
ENST00000672314.2:c.585T>A	ENSP00000500828.2:p.Ile195=
ENST00000674679.2:c.*497T>A	ENSP00000501623.2:n.*497T>A
ENST00000710952.2:c.669T>A MANE Plus Clinical	ENSP00000518552.2:p.Ile223=
ENST00000672818.3:c.660T>A	ENSP00000500891.1:p.Ile220=
ENST00000450313.6:c.595T>A	ENSP00000408176.2:p.Cys199Ser
ENST00000456914.7:c.585T>A MANE Select	ENSP00000407590.2:p.Ile195=
ENST00000461495.6:c.*324T>A	ENSP00000437166.1:n.*324T>A
ENST00000671898.1:c.1173T>A	ENSP00000499896.1:p.Ile391=
ENST00000672011.1:c.553T>A	ENSP00000500418.1:p.Cys185Ser
ENST00000672314.1:c.585T>A	ENSP00000500828.1:p.Ile195=
ENST00000672593.1:c.*473T>A	ENSP00000500455.1:n.*473T>A
ENST00000672764.1:c.544T>A	ENSP00000500886.1:p.Cys182Ser
ENST00000672818.2:c.660T>A	ENSP00000500891.1:p.Ile220=
ENST00000673134.1:c.*282T>A	ENSP00000500526.1:n.*282T>A
ENST00000674679.1:c.613T>A	ENSP00000501623.1:n.613T>A
ENST00000354383.10:c.588T>A	ENSP00000346354.6:p.Ile196=
ENST00000355498.6:c.585T>A	ENSP00000347685.2:p.Ile195=
ENST00000372098.7:c.660T>A	ENSP00000361170.3:p.Ile220=
ENST00000372104.5:c.585T>A	ENSP00000361176.1:p.Ile195=
ENST00000372110.7:c.630T>A	ENSP00000361182.3:p.Ile210=
ENST00000372115.7:c.627T>A	ENSP00000361187.3:p.Ile209=
ENST00000412971.5:c.201T>A	ENSP00000410263.1:p.Ile67=
ENST00000435155.1:c.618T>A	ENSP00000403655.1:p.Ile206=
ENST00000448481.5:c.618T>A	ENSP00000409718.1:p.Ile206=
ENST00000450313.5:c.669T>A	ENSP00000408176.1:p.Ile223=
ENST00000456914.6:c.585T>A	ENSP00000407590.2:p.Ile195=
ENST00000461495.5:c.*324T>A	ENSP00000437166.1:n.*324T>A
ENST00000462388.5:n.276T>A
ENST00000467940.5:c.*508T>A	ENSP00000436478.1:n.*508T>A
ENST00000470256.5:c.472T>A	ENSP00000434985.1:p.Cys158Ser
ENST00000475516.5:c.*398T>A	ENSP00000433843.1:n.*398T>A
ENST00000478796.5:n.572T>A
ENST00000479746.6:n.943T>A
ENST00000481571.5:c.*398T>A	ENSP00000436597.1:n.*398T>A
ENST00000488731.6:c.187+168T>A	ENSP00000432330.1:n.187+168T>A
ENST00000492494.5:n.982T>A
ENST00000525160.5:c.*236T>A	ENSP00000431568.1:n.*236T>A
ENST00000528013.6:c.627T>A	ENSP00000433130.2:p.Ile209=
ENST00000529984.5:c.187+168T>A	ENSP00000437093.1:n.187+168T>A
ENST00000531105.5:c.115+1796T>A	ENSP00000431292.1:n.115+1796T>A
ENST00000533178.5:c.214T>A	ENSP00000436430.1:p.Cys72Ser
NM_001048171.1:c.627T>A	NP_001041636.1:p.Ile209=
NM_001048172.1:c.588T>A	NP_001041637.1:p.Ile196=
NM_001048173.1:c.585T>A	NP_001041638.1:p.Ile195=
NM_001048174.1:c.585T>A	NP_001041639.1:p.Ile195=
NM_001128425.1:c.669T>A , LRG_220t1:c.669T>A	NP_001121897.1:p.Ile223=
NM_001293190.1:c.630T>A	NP_001280119.1:p.Ile210=
NM_001293191.1:c.618T>A	NP_001280120.1:p.Ile206=
NM_001293192.1:c.309T>A	NP_001280121.1:p.Ile103=
NM_001293195.1:c.585T>A	NP_001280124.1:p.Ile195=
NM_001293196.1:c.309T>A	NP_001280125.1:p.Ile103=
NM_012222.2:c.660T>A	NP_036354.1:p.Ile220=
XM_011541497.1:c.645T>A	XP_011539799.1:p.Ile215=
XM_011541498.1:c.627T>A	XP_011539800.1:p.Ile209=
XM_011541499.1:c.627T>A	XP_011539801.1:p.Ile209=
XM_011541500.1:c.627T>A	XP_011539802.1:p.Ile209=
XM_011541501.1:c.627T>A	XP_011539803.1:p.Ile209=
XM_011541502.1:c.627T>A	XP_011539804.1:p.Ile209=
XM_011541503.1:c.627T>A	XP_011539805.1:p.Ile209=
XM_011541504.1:c.618T>A	XP_011539806.1:p.Ile206=
XM_011541505.1:c.207T>A	XP_011539807.1:p.Ile69=
XM_011541506.1:c.207T>A	XP_011539808.1:p.Ile69=
XM_011541507.1:c.198T>A	XP_011539809.1:p.Ile66=
XM_011541508.1:c.213T>A	XP_011539810.1:p.Ile71=
XR_946658.1:n.716T>A
NM_001350650.1:c.240T>A	NP_001337579.1:p.Ile80=
NM_001350651.1:c.240T>A	NP_001337580.1:p.Ile80=
NR_146882.1:n.843T>A
NR_146883.1:n.657T>A
XM_011541497.3:c.645T>A	XP_011539799.1:p.Ile215=
XM_011541500.3:c.627T>A	XP_011539802.1:p.Ile209=
XM_011541501.2:c.627T>A	XP_011539803.1:p.Ile209=
XM_011541502.2:c.627T>A	XP_011539804.1:p.Ile209=
XM_011541503.2:c.627T>A	XP_011539805.1:p.Ile209=
XM_011541504.2:c.618T>A	XP_011539806.1:p.Ile206=
XM_011541505.2:c.207T>A	XP_011539807.1:p.Ile69=
XM_011541506.2:c.207T>A	XP_011539808.1:p.Ile69=
XM_017001331.1:c.627T>A	XP_016856820.1:p.Ile209=
XM_017001332.1:c.627T>A	XP_016856821.1:p.Ile209=
XM_017001333.1:c.627T>A	XP_016856822.1:p.Ile209=
XM_017001334.1:c.588T>A	XP_016856823.1:p.Ile196=
XM_017001335.1:c.309T>A	XP_016856824.1:p.Ile103=
XM_017001336.1:c.240T>A	XP_016856825.1:p.Ile80=
XM_017001337.1:c.240T>A	XP_016856826.1:p.Ile80=
XM_024447244.1:c.240T>A	XP_024303012.1:p.Ile80=
XM_024447245.1:c.240T>A	XP_024303013.1:p.Ile80=
XM_024447248.1:c.198T>A	XP_024303016.1:p.Ile66=
XM_024447249.1:c.69T>A	XP_024303017.1:p.Ile23=
XM_024447250.1:c.69T>A	XP_024303018.1:p.Ile23=
XM_024447251.1:c.69T>A	XP_024303019.1:p.Ile23=
XR_001737190.1:n.630T>A
XR_001737192.1:n.442T>A
XR_002956643.1:n.622T>A
XR_002956644.1:n.1157T>A
XR_946658.2:n.730T>A
NM_001048171.2:c.585T>A	NP_001041636.2:p.Ile195=
NM_001128425.2:c.669T>A MANE Plus Clinical	NP_001121897.1:p.Ile223=
NM_001048172.2:c.588T>A	NP_001041637.1:p.Ile196=
NM_001048173.2:c.585T>A	NP_001041638.1:p.Ile195=
NM_001048174.2:c.585T>A MANE Select	NP_001041639.1:p.Ile195=
NM_001293190.2:c.630T>A	NP_001280119.1:p.Ile210=
NM_001293191.2:c.618T>A	NP_001280120.1:p.Ile206=
NM_001293192.2:c.309T>A	NP_001280121.1:p.Ile103=
NM_001293195.2:c.585T>A	NP_001280124.1:p.Ile195=
NM_001293196.2:c.309T>A	NP_001280125.1:p.Ile103=
NM_001350650.2:c.240T>A	NP_001337579.1:p.Ile80=
NM_001350651.2:c.240T>A	NP_001337580.1:p.Ile80=
NM_012222.3:c.660T>A	NP_036354.1:p.Ile220=
NR_146882.2:n.813T>A
NR_146883.2:n.662T>A