Canonical Allele Identifier: CA417880063

Gene: MUTYH

Linked Data

• MyVariant Identifiers: chr1:g.45798617C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332945C>G , CM000663.2:g.45332945C>G	GRCh38
NC_000001.10:g.45798617C>G , CM000663.1:g.45798617C>G	GRCh37
NC_000001.9:g.45571204C>G	NCBI36
NG_008189.1:g.12526G>C , LRG_220:g.12526G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.37-111G>C	ENSP00000410263.2:n.37-111G>C
ENST00000435155.2:c.426G>C	ENSP00000403655.2:p.Leu142=
ENST00000467459.6:c.393G>C	ENSP00000435889.2:p.Leu131=
ENST00000483127.2:c.411G>C	ENSP00000436469.2:p.Leu137=
ENST00000485271.6:c.393G>C	ENSP00000431264.2:p.Leu131=
ENST00000529892.6:c.435G>C	ENSP00000432528.2:p.Leu145=
ENST00000533178.6:c.116-258G>C	ENSP00000436430.2:n.116-258G>C
ENST00000672314.2:c.393G>C	ENSP00000500828.2:p.Leu131=
ENST00000674679.2:c.*305G>C	ENSP00000501623.2:n.*305G>C
ENST00000710952.2:c.477G>C MANE Plus Clinical	ENSP00000518552.2:p.Leu159=
ENST00000672818.3:c.468G>C	ENSP00000500891.1:p.Leu156=
ENST00000450313.6:c.403G>C	ENSP00000408176.2:p.Ala135Pro
ENST00000456914.7:c.393G>C MANE Select	ENSP00000407590.2:p.Leu131=
ENST00000461495.6:c.*132G>C	ENSP00000437166.1:n.*132G>C
ENST00000671856.1:n.339G>C
ENST00000671898.1:c.981G>C	ENSP00000499896.1:p.Leu327=
ENST00000672011.1:c.361G>C	ENSP00000500418.1:p.Ala121Pro
ENST00000672314.1:c.393G>C	ENSP00000500828.1:p.Leu131=
ENST00000672593.1:c.*206G>C	ENSP00000500455.1:n.*206G>C
ENST00000672764.1:c.352G>C	ENSP00000500886.1:p.Ala118Pro
ENST00000672818.2:c.468G>C	ENSP00000500891.1:p.Leu156=
ENST00000673134.1:c.*118-111G>C	ENSP00000500526.1:n.*118-111G>C
ENST00000674679.1:c.421G>C	ENSP00000501623.1:n.421G>C
ENST00000354383.10:c.396G>C	ENSP00000346354.6:p.Leu132=
ENST00000355498.6:c.393G>C	ENSP00000347685.2:p.Leu131=
ENST00000372098.7:c.468G>C	ENSP00000361170.3:p.Leu156=
ENST00000372104.5:c.393G>C	ENSP00000361176.1:p.Leu131=
ENST00000372110.7:c.438G>C	ENSP00000361182.3:p.Leu146=
ENST00000372115.7:c.435G>C	ENSP00000361187.3:p.Leu145=
ENST00000412971.5:c.37-111G>C	ENSP00000410263.1:n.37-111G>C
ENST00000435155.1:c.426G>C	ENSP00000403655.1:p.Leu142=
ENST00000448481.5:c.426G>C	ENSP00000409718.1:p.Leu142=
ENST00000450313.5:c.477G>C	ENSP00000408176.1:p.Leu159=
ENST00000456914.6:c.393G>C	ENSP00000407590.2:p.Leu131=
ENST00000461495.5:c.*132G>C	ENSP00000437166.1:n.*132G>C
ENST00000462387.5:n.715G>C
ENST00000462388.5:n.1G>C
ENST00000467940.5:c.*316G>C	ENSP00000436478.1:n.*316G>C
ENST00000470256.5:c.308-111G>C	ENSP00000434985.1:n.308-111G>C
ENST00000475516.5:c.*206G>C	ENSP00000433843.1:n.*206G>C
ENST00000476789.5:n.750G>C
ENST00000478796.5:n.380G>C
ENST00000479746.6:n.593G>C
ENST00000481139.5:n.783G>C
ENST00000481571.5:c.*206G>C	ENSP00000436597.1:n.*206G>C
ENST00000483642.5:n.825G>C
ENST00000485484.5:n.694G>C
ENST00000488731.6:c.116-111G>C	ENSP00000432330.1:n.116-111G>C
ENST00000492494.5:n.707G>C
ENST00000525160.5:c.*44G>C	ENSP00000431568.1:n.*44G>C
ENST00000528013.6:c.435G>C	ENSP00000433130.2:p.Leu145=
ENST00000529984.5:c.116-111G>C	ENSP00000437093.1:n.116-111G>C
ENST00000531105.5:c.115+1446G>C	ENSP00000431292.1:n.115+1446G>C
ENST00000533178.5:c.122-258G>C	ENSP00000436430.1:n.122-258G>C
NM_001048171.1:c.435G>C	NP_001041636.1:p.Leu145=
NM_001048172.1:c.396G>C	NP_001041637.1:p.Leu132=
NM_001048173.1:c.393G>C	NP_001041638.1:p.Leu131=
NM_001048174.1:c.393G>C	NP_001041639.1:p.Leu131=
NM_001128425.1:c.477G>C , LRG_220t1:c.477G>C	NP_001121897.1:p.Leu159=
NM_001293190.1:c.438G>C	NP_001280119.1:p.Leu146=
NM_001293191.1:c.426G>C	NP_001280120.1:p.Leu142=
NM_001293192.1:c.117G>C	NP_001280121.1:p.Leu39=
NM_001293195.1:c.393G>C	NP_001280124.1:p.Leu131=
NM_001293196.1:c.117G>C	NP_001280125.1:p.Leu39=
NM_012222.2:c.468G>C	NP_036354.1:p.Leu156=
XM_011541497.1:c.453G>C	XP_011539799.1:p.Leu151=
XM_011541498.1:c.435G>C	XP_011539800.1:p.Leu145=
XM_011541499.1:c.435G>C	XP_011539801.1:p.Leu145=
XM_011541500.1:c.435G>C	XP_011539802.1:p.Leu145=
XM_011541501.1:c.435G>C	XP_011539803.1:p.Leu145=
XM_011541502.1:c.435G>C	XP_011539804.1:p.Leu145=
XM_011541503.1:c.463-111G>C	XP_011539805.1:n.463-111G>C
XM_011541504.1:c.426G>C	XP_011539806.1:p.Leu142=
XM_011541505.1:c.43-111G>C	XP_011539807.1:n.43-111G>C
XM_011541506.1:c.43-111G>C	XP_011539808.1:n.43-111G>C
XM_011541507.1:c.34-111G>C	XP_011539809.1:n.34-111G>C
XM_011541508.1:c.21G>C	XP_011539810.1:p.Leu7=
XR_946658.1:n.524G>C
NM_001350650.1:c.48G>C	NP_001337579.1:p.Leu16=
NM_001350651.1:c.48G>C	NP_001337580.1:p.Leu16=
NR_146882.1:n.651G>C
NR_146883.1:n.465G>C
XM_011541497.3:c.453G>C	XP_011539799.1:p.Leu151=
XM_011541500.3:c.435G>C	XP_011539802.1:p.Leu145=
XM_011541501.2:c.435G>C	XP_011539803.1:p.Leu145=
XM_011541502.2:c.435G>C	XP_011539804.1:p.Leu145=
XM_011541503.2:c.463-111G>C	XP_011539805.1:n.463-111G>C
XM_011541504.2:c.426G>C	XP_011539806.1:p.Leu142=
XM_011541505.2:c.43-111G>C	XP_011539807.1:n.43-111G>C
XM_011541506.2:c.43-111G>C	XP_011539808.1:n.43-111G>C
XM_017001331.1:c.435G>C	XP_016856820.1:p.Leu145=
XM_017001332.1:c.435G>C	XP_016856821.1:p.Leu145=
XM_017001333.1:c.435G>C	XP_016856822.1:p.Leu145=
XM_017001334.1:c.396G>C	XP_016856823.1:p.Leu132=
XM_017001335.1:c.117G>C	XP_016856824.1:p.Leu39=
XM_017001336.1:c.48G>C	XP_016856825.1:p.Leu16=
XM_017001337.1:c.48G>C	XP_016856826.1:p.Leu16=
XM_024447244.1:c.48G>C	XP_024303012.1:p.Leu16=
XM_024447245.1:c.48G>C	XP_024303013.1:p.Leu16=
XM_024447248.1:c.34-111G>C	XP_024303016.1:n.34-111G>C
XM_024447249.1:c.-124G>C	XP_024303017.1:n.-124G>C
XM_024447250.1:c.-124G>C	XP_024303018.1:n.-124G>C
XM_024447251.1:c.-207G>C	XP_024303019.1:n.-207G>C
XR_001737190.1:n.438G>C
XR_001737192.1:n.278-111G>C
XR_002956643.1:n.458-111G>C
XR_002956644.1:n.882G>C
XR_946658.2:n.538G>C
NM_001048171.2:c.393G>C	NP_001041636.2:p.Leu131=
NM_001128425.2:c.477G>C MANE Plus Clinical	NP_001121897.1:p.Leu159=
NM_001048172.2:c.396G>C	NP_001041637.1:p.Leu132=
NM_001048173.2:c.393G>C	NP_001041638.1:p.Leu131=
NM_001048174.2:c.393G>C MANE Select	NP_001041639.1:p.Leu131=
NM_001293190.2:c.438G>C	NP_001280119.1:p.Leu146=
NM_001293191.2:c.426G>C	NP_001280120.1:p.Leu142=
NM_001293192.2:c.117G>C	NP_001280121.1:p.Leu39=
NM_001293195.2:c.393G>C	NP_001280124.1:p.Leu131=
NM_001293196.2:c.117G>C	NP_001280125.1:p.Leu39=
NM_001350650.2:c.48G>C	NP_001337579.1:p.Leu16=
NM_001350651.2:c.48G>C	NP_001337580.1:p.Leu16=
NM_012222.3:c.468G>C	NP_036354.1:p.Leu156=
NR_146882.2:n.621G>C
NR_146883.2:n.470G>C