Canonical Allele Identifier: CA2473712828

Gene: MUTYH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332631G= , CM000663.2:g.45332631G=	GRCh38
NC_000001.10:g.45798303G= , CM000663.1:g.45798303G=	GRCh37
NC_000001.9:g.45570890G=	NCBI36
NG_008189.1:g.12840C= , LRG_220:g.12840C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.165C=	ENSP00000410263.2:p.Leu55=
ENST00000435155.2:c.582C=	ENSP00000403655.2:p.Leu194=
ENST00000467459.6:c.549C=	ENSP00000435889.2:p.Leu183=
ENST00000483127.2:c.567C=	ENSP00000436469.2:p.Leu189=
ENST00000485271.6:c.549C=	ENSP00000431264.2:p.Leu183=
ENST00000529892.6:c.591C=	ENSP00000432528.2:p.Leu197=
ENST00000533178.6:c.172C=	ENSP00000436430.2:p.Pro58=
ENST00000672314.2:c.549C=	ENSP00000500828.2:p.Leu183=
ENST00000674679.2:c.*461C=	ENSP00000501623.2:n.*461C=
ENST00000710952.2:c.633C= MANE Plus Clinical	ENSP00000518552.2:p.Leu211=
ENST00000672818.3:c.624C=	ENSP00000500891.1:p.Leu208=
ENST00000450313.6:c.559C=	ENSP00000408176.2:p.Pro187=
ENST00000456914.7:c.549C= MANE Select	ENSP00000407590.2:p.Leu183=
ENST00000461495.6:c.*288C=	ENSP00000437166.1:n.*288C=
ENST00000671856.1:n.495C=
ENST00000671898.1:c.1137C=	ENSP00000499896.1:p.Leu379=
ENST00000672011.1:c.517C=	ENSP00000500418.1:p.Pro173=
ENST00000672314.1:c.549C=	ENSP00000500828.1:p.Leu183=
ENST00000672593.1:c.*437C=	ENSP00000500455.1:n.*437C=
ENST00000672764.1:c.508C=	ENSP00000500886.1:p.Pro170=
ENST00000672818.2:c.624C=	ENSP00000500891.1:p.Leu208=
ENST00000673134.1:c.*246C=	ENSP00000500526.1:n.*246C=
ENST00000674679.1:c.577C=	ENSP00000501623.1:n.577C=
ENST00000354383.10:c.552C=	ENSP00000346354.6:p.Leu184=
ENST00000355498.6:c.549C=	ENSP00000347685.2:p.Leu183=
ENST00000372098.7:c.624C=	ENSP00000361170.3:p.Leu208=
ENST00000372104.5:c.549C=	ENSP00000361176.1:p.Leu183=
ENST00000372110.7:c.594C=	ENSP00000361182.3:p.Leu198=
ENST00000372115.7:c.591C=	ENSP00000361187.3:p.Leu197=
ENST00000412971.5:c.165C=	ENSP00000410263.1:p.Leu55=
ENST00000435155.1:c.582C=	ENSP00000403655.1:p.Leu194=
ENST00000448481.5:c.582C=	ENSP00000409718.1:p.Leu194=
ENST00000450313.5:c.633C=	ENSP00000408176.1:p.Leu211=
ENST00000456914.6:c.549C=	ENSP00000407590.2:p.Leu183=
ENST00000461495.5:c.*288C=	ENSP00000437166.1:n.*288C=
ENST00000462388.5:n.240C=
ENST00000467940.5:c.*472C=	ENSP00000436478.1:n.*472C=
ENST00000470256.5:c.436C=	ENSP00000434985.1:p.Pro146=
ENST00000475516.5:c.*362C=	ENSP00000433843.1:n.*362C=
ENST00000478796.5:n.536C=
ENST00000479746.6:n.907C=
ENST00000481571.5:c.*362C=	ENSP00000436597.1:n.*362C=
ENST00000483642.5:n.1064C=
ENST00000488731.6:c.187+132C=	ENSP00000432330.1:n.187+132C=
ENST00000492494.5:n.946C=
ENST00000525160.5:c.*200C=	ENSP00000431568.1:n.*200C=
ENST00000528013.6:c.591C=	ENSP00000433130.2:p.Leu197=
ENST00000529984.5:c.187+132C=	ENSP00000437093.1:n.187+132C=
ENST00000531105.5:c.115+1760C=	ENSP00000431292.1:n.115+1760C=
ENST00000533178.5:c.178C=	ENSP00000436430.1:p.Pro60=
NM_001048171.1:c.591C=	NP_001041636.1:p.Leu197=
NM_001048172.1:c.552C=	NP_001041637.1:p.Leu184=
NM_001048173.1:c.549C=	NP_001041638.1:p.Leu183=
NM_001048174.1:c.549C=	NP_001041639.1:p.Leu183=
NM_001128425.1:c.633C= , LRG_220t1:c.633C=	NP_001121897.1:p.Leu211=
NM_001293190.1:c.594C=	NP_001280119.1:p.Leu198=
NM_001293191.1:c.582C=	NP_001280120.1:p.Leu194=
NM_001293192.1:c.273C=	NP_001280121.1:p.Leu91=
NM_001293195.1:c.549C=	NP_001280124.1:p.Leu183=
NM_001293196.1:c.273C=	NP_001280125.1:p.Leu91=
NM_012222.2:c.624C=	NP_036354.1:p.Leu208=
XM_011541497.1:c.609C=	XP_011539799.1:p.Leu203=
XM_011541498.1:c.591C=	XP_011539800.1:p.Leu197=
XM_011541499.1:c.591C=	XP_011539801.1:p.Leu197=
XM_011541500.1:c.591C=	XP_011539802.1:p.Leu197=
XM_011541501.1:c.591C=	XP_011539803.1:p.Leu197=
XM_011541502.1:c.591C=	XP_011539804.1:p.Leu197=
XM_011541503.1:c.591C=	XP_011539805.1:p.Leu197=
XM_011541504.1:c.582C=	XP_011539806.1:p.Leu194=
XM_011541505.1:c.171C=	XP_011539807.1:p.Leu57=
XM_011541506.1:c.171C=	XP_011539808.1:p.Leu57=
XM_011541507.1:c.162C=	XP_011539809.1:p.Leu54=
XM_011541508.1:c.177C=	XP_011539810.1:p.Leu59=
XR_946658.1:n.680C=
NM_001350650.1:c.204C=	NP_001337579.1:p.Leu68=
NM_001350651.1:c.204C=	NP_001337580.1:p.Leu68=
NR_146882.1:n.807C=
NR_146883.1:n.621C=
XM_011541497.3:c.609C=	XP_011539799.1:p.Leu203=
XM_011541500.3:c.591C=	XP_011539802.1:p.Leu197=
XM_011541501.2:c.591C=	XP_011539803.1:p.Leu197=
XM_011541502.2:c.591C=	XP_011539804.1:p.Leu197=
XM_011541503.2:c.591C=	XP_011539805.1:p.Leu197=
XM_011541504.2:c.582C=	XP_011539806.1:p.Leu194=
XM_011541505.2:c.171C=	XP_011539807.1:p.Leu57=
XM_011541506.2:c.171C=	XP_011539808.1:p.Leu57=
XM_017001331.1:c.591C=	XP_016856820.1:p.Leu197=
XM_017001332.1:c.591C=	XP_016856821.1:p.Leu197=
XM_017001333.1:c.591C=	XP_016856822.1:p.Leu197=
XM_017001334.1:c.552C=	XP_016856823.1:p.Leu184=
XM_017001335.1:c.273C=	XP_016856824.1:p.Leu91=
XM_017001336.1:c.204C=	XP_016856825.1:p.Leu68=
XM_017001337.1:c.204C=	XP_016856826.1:p.Leu68=
XM_024447244.1:c.204C=	XP_024303012.1:p.Leu68=
XM_024447245.1:c.204C=	XP_024303013.1:p.Leu68=
XM_024447248.1:c.162C=	XP_024303016.1:p.Leu54=
XM_024447249.1:c.33C=	XP_024303017.1:p.Leu11=
XM_024447250.1:c.33C=	XP_024303018.1:p.Leu11=
XM_024447251.1:c.33C=	XP_024303019.1:p.Leu11=
XR_001737190.1:n.594C=
XR_001737192.1:n.406C=
XR_002956643.1:n.586C=
XR_002956644.1:n.1121C=
XR_946658.2:n.694C=
NM_001048171.2:c.549C=	NP_001041636.2:p.Leu183=
NM_001128425.2:c.633C= MANE Plus Clinical	NP_001121897.1:p.Leu211=
NM_001048172.2:c.552C=	NP_001041637.1:p.Leu184=
NM_001048173.2:c.549C=	NP_001041638.1:p.Leu183=
NM_001048174.2:c.549C= MANE Select	NP_001041639.1:p.Leu183=
NM_001293190.2:c.594C=	NP_001280119.1:p.Leu198=
NM_001293191.2:c.582C=	NP_001280120.1:p.Leu194=
NM_001293192.2:c.273C=	NP_001280121.1:p.Leu91=
NM_001293195.2:c.549C=	NP_001280124.1:p.Leu183=
NM_001293196.2:c.273C=	NP_001280125.1:p.Leu91=
NM_001350650.2:c.204C=	NP_001337579.1:p.Leu68=
NM_001350651.2:c.204C=	NP_001337580.1:p.Leu68=
NM_012222.3:c.624C=	NP_036354.1:p.Leu208=
NR_146882.2:n.777C=
NR_146883.2:n.626C=