Canonical Allele Identifier: CA340135256

Gene: MUTYH

Linked Data

• MyVariant Identifiers: chr1:g.45798246C>A (hg19) ; chr1:g.45332574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332574C>A , CM000663.2:g.45332574C>A	GRCh38
NC_000001.10:g.45798246C>A , CM000663.1:g.45798246C>A	GRCh37
NC_000001.9:g.45570833C>A	NCBI36
NG_008189.1:g.12897G>T , LRG_220:g.12897G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.222G>T	ENSP00000410263.2:p.Gln74His
ENST00000435155.2:c.639G>T	ENSP00000403655.2:p.Gln213His
ENST00000467459.6:c.606G>T	ENSP00000435889.2:p.Gln202His
ENST00000483127.2:c.624G>T	ENSP00000436469.2:p.Gln208His
ENST00000485271.6:c.606G>T	ENSP00000431264.2:p.Gln202His
ENST00000529892.6:c.648G>T	ENSP00000432528.2:p.Gln216His
ENST00000533178.6:c.229G>T	ENSP00000436430.2:p.Gly77Cys
ENST00000672314.2:c.606G>T	ENSP00000500828.2:p.Gln202His
ENST00000674679.2:c.*518G>T	ENSP00000501623.2:n.*518G>T
ENST00000710952.2:c.690G>T MANE Plus Clinical	ENSP00000518552.2:p.Gln230His
ENST00000672818.3:c.681G>T	ENSP00000500891.1:p.Gln227His
ENST00000450313.6:c.616G>T	ENSP00000408176.2:p.Gly206Cys
ENST00000456914.7:c.606G>T MANE Select	ENSP00000407590.2:p.Gln202His
ENST00000461495.6:c.*345G>T	ENSP00000437166.1:n.*345G>T
ENST00000671898.1:c.1194G>T	ENSP00000499896.1:p.Gln398His
ENST00000672011.1:c.574G>T	ENSP00000500418.1:p.Gly192Cys
ENST00000672314.1:c.606G>T	ENSP00000500828.1:p.Gln202His
ENST00000672593.1:c.*494G>T	ENSP00000500455.1:n.*494G>T
ENST00000672764.1:c.565G>T	ENSP00000500886.1:p.Gly189Cys
ENST00000672818.2:c.681G>T	ENSP00000500891.1:p.Gln227His
ENST00000673134.1:c.*303G>T	ENSP00000500526.1:n.*303G>T
ENST00000674679.1:c.634G>T	ENSP00000501623.1:n.634G>T
ENST00000354383.10:c.609G>T	ENSP00000346354.6:p.Gln203His
ENST00000355498.6:c.606G>T	ENSP00000347685.2:p.Gln202His
ENST00000372098.7:c.681G>T	ENSP00000361170.3:p.Gln227His
ENST00000372104.5:c.606G>T	ENSP00000361176.1:p.Gln202His
ENST00000372110.7:c.651G>T	ENSP00000361182.3:p.Gln217His
ENST00000372115.7:c.648G>T	ENSP00000361187.3:p.Gln216His
ENST00000412971.5:c.222G>T	ENSP00000410263.1:p.Gln74His
ENST00000435155.1:c.639G>T	ENSP00000403655.1:p.Gln213His
ENST00000448481.5:c.639G>T	ENSP00000409718.1:p.Gln213His
ENST00000450313.5:c.690G>T	ENSP00000408176.1:p.Gln230His
ENST00000456914.6:c.606G>T	ENSP00000407590.2:p.Gln202His
ENST00000461495.5:c.*345G>T	ENSP00000437166.1:n.*345G>T
ENST00000462388.5:n.297G>T
ENST00000467940.5:c.*529G>T	ENSP00000436478.1:n.*529G>T
ENST00000470256.5:c.493G>T	ENSP00000434985.1:p.Gly165Cys
ENST00000475516.5:c.*419G>T	ENSP00000433843.1:n.*419G>T
ENST00000478796.5:n.593G>T
ENST00000479746.6:n.964G>T
ENST00000481571.5:c.*419G>T	ENSP00000436597.1:n.*419G>T
ENST00000488731.6:c.187+189G>T	ENSP00000432330.1:n.187+189G>T
ENST00000525160.5:c.*257G>T	ENSP00000431568.1:n.*257G>T
ENST00000528013.6:c.648G>T	ENSP00000433130.2:p.Gln216His
ENST00000529984.5:c.187+189G>T	ENSP00000437093.1:n.187+189G>T
ENST00000531105.5:c.115+1817G>T	ENSP00000431292.1:n.115+1817G>T
ENST00000533178.5:c.235G>T	ENSP00000436430.1:p.Gly79Cys
NM_001048171.1:c.648G>T	NP_001041636.1:p.Gln216His
NM_001048172.1:c.609G>T	NP_001041637.1:p.Gln203His
NM_001048173.1:c.606G>T	NP_001041638.1:p.Gln202His
NM_001048174.1:c.606G>T	NP_001041639.1:p.Gln202His
NM_001128425.1:c.690G>T , LRG_220t1:c.690G>T	NP_001121897.1:p.Gln230His
NM_001293190.1:c.651G>T	NP_001280119.1:p.Gln217His
NM_001293191.1:c.639G>T	NP_001280120.1:p.Gln213His
NM_001293192.1:c.330G>T	NP_001280121.1:p.Gln110His
NM_001293195.1:c.606G>T	NP_001280124.1:p.Gln202His
NM_001293196.1:c.330G>T	NP_001280125.1:p.Gln110His
NM_012222.2:c.681G>T	NP_036354.1:p.Gln227His
XM_011541497.1:c.666G>T	XP_011539799.1:p.Gln222His
XM_011541498.1:c.648G>T	XP_011539800.1:p.Gln216His
XM_011541499.1:c.648G>T	XP_011539801.1:p.Gln216His
XM_011541500.1:c.648G>T	XP_011539802.1:p.Gln216His
XM_011541501.1:c.648G>T	XP_011539803.1:p.Gln216His
XM_011541502.1:c.648G>T	XP_011539804.1:p.Gln216His
XM_011541503.1:c.648G>T	XP_011539805.1:p.Gln216His
XM_011541504.1:c.639G>T	XP_011539806.1:p.Gln213His
XM_011541505.1:c.228G>T	XP_011539807.1:p.Gln76His
XM_011541506.1:c.228G>T	XP_011539808.1:p.Gln76His
XM_011541507.1:c.219G>T	XP_011539809.1:p.Gln73His
XM_011541508.1:c.234G>T	XP_011539810.1:p.Gln78His
XR_946658.1:n.737G>T
NM_001350650.1:c.261G>T	NP_001337579.1:p.Gln87His
NM_001350651.1:c.261G>T	NP_001337580.1:p.Gln87His
NR_146882.1:n.864G>T
NR_146883.1:n.678G>T
XM_011541497.3:c.666G>T	XP_011539799.1:p.Gln222His
XM_011541500.3:c.648G>T	XP_011539802.1:p.Gln216His
XM_011541501.2:c.648G>T	XP_011539803.1:p.Gln216His
XM_011541502.2:c.648G>T	XP_011539804.1:p.Gln216His
XM_011541503.2:c.648G>T	XP_011539805.1:p.Gln216His
XM_011541504.2:c.639G>T	XP_011539806.1:p.Gln213His
XM_011541505.2:c.228G>T	XP_011539807.1:p.Gln76His
XM_011541506.2:c.228G>T	XP_011539808.1:p.Gln76His
XM_017001331.1:c.648G>T	XP_016856820.1:p.Gln216His
XM_017001332.1:c.648G>T	XP_016856821.1:p.Gln216His
XM_017001333.1:c.648G>T	XP_016856822.1:p.Gln216His
XM_017001334.1:c.609G>T	XP_016856823.1:p.Gln203His
XM_017001335.1:c.330G>T	XP_016856824.1:p.Gln110His
XM_017001336.1:c.261G>T	XP_016856825.1:p.Gln87His
XM_017001337.1:c.261G>T	XP_016856826.1:p.Gln87His
XM_024447244.1:c.261G>T	XP_024303012.1:p.Gln87His
XM_024447245.1:c.261G>T	XP_024303013.1:p.Gln87His
XM_024447248.1:c.219G>T	XP_024303016.1:p.Gln73His
XM_024447249.1:c.90G>T	XP_024303017.1:p.Gln30His
XM_024447250.1:c.90G>T	XP_024303018.1:p.Gln30His
XM_024447251.1:c.90G>T	XP_024303019.1:p.Gln30His
XR_001737190.1:n.651G>T
XR_001737192.1:n.463G>T
XR_002956643.1:n.643G>T
XR_002956644.1:n.1178G>T
XR_946658.2:n.751G>T
NM_001048171.2:c.606G>T	NP_001041636.2:p.Gln202His
NM_001128425.2:c.690G>T MANE Plus Clinical	NP_001121897.1:p.Gln230His
NM_001048172.2:c.609G>T	NP_001041637.1:p.Gln203His
NM_001048173.2:c.606G>T	NP_001041638.1:p.Gln202His
NM_001048174.2:c.606G>T MANE Select	NP_001041639.1:p.Gln202His
NM_001293190.2:c.651G>T	NP_001280119.1:p.Gln217His
NM_001293191.2:c.639G>T	NP_001280120.1:p.Gln213His
NM_001293192.2:c.330G>T	NP_001280121.1:p.Gln110His
NM_001293195.2:c.606G>T	NP_001280124.1:p.Gln202His
NM_001293196.2:c.330G>T	NP_001280125.1:p.Gln110His
NM_001350650.2:c.261G>T	NP_001337579.1:p.Gln87His
NM_001350651.2:c.261G>T	NP_001337580.1:p.Gln87His
NM_012222.3:c.681G>T	NP_036354.1:p.Gln227His
NR_146882.2:n.834G>T
NR_146883.2:n.683G>T