Canonical Allele Identifier: CA417880036

Gene: MUTYH

Linked Data

• MyVariant Identifiers: chr1:g.45798285G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332613G>T , CM000663.2:g.45332613G>T	GRCh38
NC_000001.10:g.45798285G>T , CM000663.1:g.45798285G>T	GRCh37
NC_000001.9:g.45570872G>T	NCBI36
NG_008189.1:g.12858C>A , LRG_220:g.12858C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.183C>A	ENSP00000410263.2:p.Arg61=
ENST00000435155.2:c.600C>A	ENSP00000403655.2:p.Arg200=
ENST00000467459.6:c.567C>A	ENSP00000435889.2:p.Arg189=
ENST00000483127.2:c.585C>A	ENSP00000436469.2:p.Arg195=
ENST00000485271.6:c.567C>A	ENSP00000431264.2:p.Arg189=
ENST00000529892.6:c.609C>A	ENSP00000432528.2:p.Arg203=
ENST00000533178.6:c.190C>A	ENSP00000436430.2:p.Leu64Ile
ENST00000672314.2:c.567C>A	ENSP00000500828.2:p.Arg189=
ENST00000674679.2:c.*479C>A	ENSP00000501623.2:n.*479C>A
ENST00000710952.2:c.651C>A MANE Plus Clinical	ENSP00000518552.2:p.Arg217=
ENST00000672818.3:c.642C>A	ENSP00000500891.1:p.Arg214=
ENST00000450313.6:c.577C>A	ENSP00000408176.2:p.Leu193Ile
ENST00000456914.7:c.567C>A MANE Select	ENSP00000407590.2:p.Arg189=
ENST00000461495.6:c.*306C>A	ENSP00000437166.1:n.*306C>A
ENST00000671856.1:n.513C>A
ENST00000671898.1:c.1155C>A	ENSP00000499896.1:p.Arg385=
ENST00000672011.1:c.535C>A	ENSP00000500418.1:p.Leu179Ile
ENST00000672314.1:c.567C>A	ENSP00000500828.1:p.Arg189=
ENST00000672593.1:c.*455C>A	ENSP00000500455.1:n.*455C>A
ENST00000672764.1:c.526C>A	ENSP00000500886.1:p.Leu176Ile
ENST00000672818.2:c.642C>A	ENSP00000500891.1:p.Arg214=
ENST00000673134.1:c.*264C>A	ENSP00000500526.1:n.*264C>A
ENST00000674679.1:c.595C>A	ENSP00000501623.1:n.595C>A
ENST00000354383.10:c.570C>A	ENSP00000346354.6:p.Arg190=
ENST00000355498.6:c.567C>A	ENSP00000347685.2:p.Arg189=
ENST00000372098.7:c.642C>A	ENSP00000361170.3:p.Arg214=
ENST00000372104.5:c.567C>A	ENSP00000361176.1:p.Arg189=
ENST00000372110.7:c.612C>A	ENSP00000361182.3:p.Arg204=
ENST00000372115.7:c.609C>A	ENSP00000361187.3:p.Arg203=
ENST00000412971.5:c.183C>A	ENSP00000410263.1:p.Arg61=
ENST00000435155.1:c.600C>A	ENSP00000403655.1:p.Arg200=
ENST00000448481.5:c.600C>A	ENSP00000409718.1:p.Arg200=
ENST00000450313.5:c.651C>A	ENSP00000408176.1:p.Arg217=
ENST00000456914.6:c.567C>A	ENSP00000407590.2:p.Arg189=
ENST00000461495.5:c.*306C>A	ENSP00000437166.1:n.*306C>A
ENST00000462388.5:n.258C>A
ENST00000467940.5:c.*490C>A	ENSP00000436478.1:n.*490C>A
ENST00000470256.5:c.454C>A	ENSP00000434985.1:p.Leu152Ile
ENST00000475516.5:c.*380C>A	ENSP00000433843.1:n.*380C>A
ENST00000478796.5:n.554C>A
ENST00000479746.6:n.925C>A
ENST00000481571.5:c.*380C>A	ENSP00000436597.1:n.*380C>A
ENST00000488731.6:c.187+150C>A	ENSP00000432330.1:n.187+150C>A
ENST00000492494.5:n.964C>A
ENST00000525160.5:c.*218C>A	ENSP00000431568.1:n.*218C>A
ENST00000528013.6:c.609C>A	ENSP00000433130.2:p.Arg203=
ENST00000529984.5:c.187+150C>A	ENSP00000437093.1:n.187+150C>A
ENST00000531105.5:c.115+1778C>A	ENSP00000431292.1:n.115+1778C>A
ENST00000533178.5:c.196C>A	ENSP00000436430.1:p.Leu66Ile
NM_001048171.1:c.609C>A	NP_001041636.1:p.Arg203=
NM_001048172.1:c.570C>A	NP_001041637.1:p.Arg190=
NM_001048173.1:c.567C>A	NP_001041638.1:p.Arg189=
NM_001048174.1:c.567C>A	NP_001041639.1:p.Arg189=
NM_001128425.1:c.651C>A , LRG_220t1:c.651C>A	NP_001121897.1:p.Arg217=
NM_001293190.1:c.612C>A	NP_001280119.1:p.Arg204=
NM_001293191.1:c.600C>A	NP_001280120.1:p.Arg200=
NM_001293192.1:c.291C>A	NP_001280121.1:p.Arg97=
NM_001293195.1:c.567C>A	NP_001280124.1:p.Arg189=
NM_001293196.1:c.291C>A	NP_001280125.1:p.Arg97=
NM_012222.2:c.642C>A	NP_036354.1:p.Arg214=
XM_011541497.1:c.627C>A	XP_011539799.1:p.Arg209=
XM_011541498.1:c.609C>A	XP_011539800.1:p.Arg203=
XM_011541499.1:c.609C>A	XP_011539801.1:p.Arg203=
XM_011541500.1:c.609C>A	XP_011539802.1:p.Arg203=
XM_011541501.1:c.609C>A	XP_011539803.1:p.Arg203=
XM_011541502.1:c.609C>A	XP_011539804.1:p.Arg203=
XM_011541503.1:c.609C>A	XP_011539805.1:p.Arg203=
XM_011541504.1:c.600C>A	XP_011539806.1:p.Arg200=
XM_011541505.1:c.189C>A	XP_011539807.1:p.Arg63=
XM_011541506.1:c.189C>A	XP_011539808.1:p.Arg63=
XM_011541507.1:c.180C>A	XP_011539809.1:p.Arg60=
XM_011541508.1:c.195C>A	XP_011539810.1:p.Arg65=
XR_946658.1:n.698C>A
NM_001350650.1:c.222C>A	NP_001337579.1:p.Arg74=
NM_001350651.1:c.222C>A	NP_001337580.1:p.Arg74=
NR_146882.1:n.825C>A
NR_146883.1:n.639C>A
XM_011541497.3:c.627C>A	XP_011539799.1:p.Arg209=
XM_011541500.3:c.609C>A	XP_011539802.1:p.Arg203=
XM_011541501.2:c.609C>A	XP_011539803.1:p.Arg203=
XM_011541502.2:c.609C>A	XP_011539804.1:p.Arg203=
XM_011541503.2:c.609C>A	XP_011539805.1:p.Arg203=
XM_011541504.2:c.600C>A	XP_011539806.1:p.Arg200=
XM_011541505.2:c.189C>A	XP_011539807.1:p.Arg63=
XM_011541506.2:c.189C>A	XP_011539808.1:p.Arg63=
XM_017001331.1:c.609C>A	XP_016856820.1:p.Arg203=
XM_017001332.1:c.609C>A	XP_016856821.1:p.Arg203=
XM_017001333.1:c.609C>A	XP_016856822.1:p.Arg203=
XM_017001334.1:c.570C>A	XP_016856823.1:p.Arg190=
XM_017001335.1:c.291C>A	XP_016856824.1:p.Arg97=
XM_017001336.1:c.222C>A	XP_016856825.1:p.Arg74=
XM_017001337.1:c.222C>A	XP_016856826.1:p.Arg74=
XM_024447244.1:c.222C>A	XP_024303012.1:p.Arg74=
XM_024447245.1:c.222C>A	XP_024303013.1:p.Arg74=
XM_024447248.1:c.180C>A	XP_024303016.1:p.Arg60=
XM_024447249.1:c.51C>A	XP_024303017.1:p.Arg17=
XM_024447250.1:c.51C>A	XP_024303018.1:p.Arg17=
XM_024447251.1:c.51C>A	XP_024303019.1:p.Arg17=
XR_001737190.1:n.612C>A
XR_001737192.1:n.424C>A
XR_002956643.1:n.604C>A
XR_002956644.1:n.1139C>A
XR_946658.2:n.712C>A
NM_001048171.2:c.567C>A	NP_001041636.2:p.Arg189=
NM_001128425.2:c.651C>A MANE Plus Clinical	NP_001121897.1:p.Arg217=
NM_001048172.2:c.570C>A	NP_001041637.1:p.Arg190=
NM_001048173.2:c.567C>A	NP_001041638.1:p.Arg189=
NM_001048174.2:c.567C>A MANE Select	NP_001041639.1:p.Arg189=
NM_001293190.2:c.612C>A	NP_001280119.1:p.Arg204=
NM_001293191.2:c.600C>A	NP_001280120.1:p.Arg200=
NM_001293192.2:c.291C>A	NP_001280121.1:p.Arg97=
NM_001293195.2:c.567C>A	NP_001280124.1:p.Arg189=
NM_001293196.2:c.291C>A	NP_001280125.1:p.Arg97=
NM_001350650.2:c.222C>A	NP_001337579.1:p.Arg74=
NM_001350651.2:c.222C>A	NP_001337580.1:p.Arg74=
NM_012222.3:c.642C>A	NP_036354.1:p.Arg214=
NR_146882.2:n.795C>A
NR_146883.2:n.644C>A