Canonical Allele Identifier: CA340135284

Gene: MUTYH

Linked Data

• MyVariant Identifiers: chr1:g.45798260T>A (hg19) ; chr1:g.45332588T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332588T>A , CM000663.2:g.45332588T>A	GRCh38
NC_000001.10:g.45798260T>A , CM000663.1:g.45798260T>A	GRCh37
NC_000001.9:g.45570847T>A	NCBI36
NG_008189.1:g.12883A>T , LRG_220:g.12883A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.208A>T	ENSP00000410263.2:p.Ile70Phe
ENST00000435155.2:c.625A>T	ENSP00000403655.2:p.Ile209Phe
ENST00000467459.6:c.592A>T	ENSP00000435889.2:p.Ile198Phe
ENST00000483127.2:c.610A>T	ENSP00000436469.2:p.Ile204Phe
ENST00000485271.6:c.592A>T	ENSP00000431264.2:p.Ile198Phe
ENST00000529892.6:c.634A>T	ENSP00000432528.2:p.Ile212Phe
ENST00000533178.6:c.215A>T	ENSP00000436430.2:p.Tyr72Phe
ENST00000672314.2:c.592A>T	ENSP00000500828.2:p.Ile198Phe
ENST00000674679.2:c.*504A>T	ENSP00000501623.2:n.*504A>T
ENST00000710952.2:c.676A>T MANE Plus Clinical	ENSP00000518552.2:p.Ile226Phe
ENST00000672818.3:c.667A>T	ENSP00000500891.1:p.Ile223Phe
ENST00000450313.6:c.602A>T	ENSP00000408176.2:p.Tyr201Phe
ENST00000456914.7:c.592A>T MANE Select	ENSP00000407590.2:p.Ile198Phe
ENST00000461495.6:c.*331A>T	ENSP00000437166.1:n.*331A>T
ENST00000671898.1:c.1180A>T	ENSP00000499896.1:p.Ile394Phe
ENST00000672011.1:c.560A>T	ENSP00000500418.1:p.Tyr187Phe
ENST00000672314.1:c.592A>T	ENSP00000500828.1:p.Ile198Phe
ENST00000672593.1:c.*480A>T	ENSP00000500455.1:n.*480A>T
ENST00000672764.1:c.551A>T	ENSP00000500886.1:p.Tyr184Phe
ENST00000672818.2:c.667A>T	ENSP00000500891.1:p.Ile223Phe
ENST00000673134.1:c.*289A>T	ENSP00000500526.1:n.*289A>T
ENST00000674679.1:c.620A>T	ENSP00000501623.1:n.620A>T
ENST00000354383.10:c.595A>T	ENSP00000346354.6:p.Ile199Phe
ENST00000355498.6:c.592A>T	ENSP00000347685.2:p.Ile198Phe
ENST00000372098.7:c.667A>T	ENSP00000361170.3:p.Ile223Phe
ENST00000372104.5:c.592A>T	ENSP00000361176.1:p.Ile198Phe
ENST00000372110.7:c.637A>T	ENSP00000361182.3:p.Ile213Phe
ENST00000372115.7:c.634A>T	ENSP00000361187.3:p.Ile212Phe
ENST00000412971.5:c.208A>T	ENSP00000410263.1:p.Ile70Phe
ENST00000435155.1:c.625A>T	ENSP00000403655.1:p.Ile209Phe
ENST00000448481.5:c.625A>T	ENSP00000409718.1:p.Ile209Phe
ENST00000450313.5:c.676A>T	ENSP00000408176.1:p.Ile226Phe
ENST00000456914.6:c.592A>T	ENSP00000407590.2:p.Ile198Phe
ENST00000461495.5:c.*331A>T	ENSP00000437166.1:n.*331A>T
ENST00000462388.5:n.283A>T
ENST00000467940.5:c.*515A>T	ENSP00000436478.1:n.*515A>T
ENST00000470256.5:c.479A>T	ENSP00000434985.1:p.Tyr160Phe
ENST00000475516.5:c.*405A>T	ENSP00000433843.1:n.*405A>T
ENST00000478796.5:n.579A>T
ENST00000479746.6:n.950A>T
ENST00000481571.5:c.*405A>T	ENSP00000436597.1:n.*405A>T
ENST00000488731.6:c.187+175A>T	ENSP00000432330.1:n.187+175A>T
ENST00000492494.5:n.989A>T
ENST00000525160.5:c.*243A>T	ENSP00000431568.1:n.*243A>T
ENST00000528013.6:c.634A>T	ENSP00000433130.2:p.Ile212Phe
ENST00000529984.5:c.187+175A>T	ENSP00000437093.1:n.187+175A>T
ENST00000531105.5:c.115+1803A>T	ENSP00000431292.1:n.115+1803A>T
ENST00000533178.5:c.221A>T	ENSP00000436430.1:p.Tyr74Phe
NM_001048171.1:c.634A>T	NP_001041636.1:p.Ile212Phe
NM_001048172.1:c.595A>T	NP_001041637.1:p.Ile199Phe
NM_001048173.1:c.592A>T	NP_001041638.1:p.Ile198Phe
NM_001048174.1:c.592A>T	NP_001041639.1:p.Ile198Phe
NM_001128425.1:c.676A>T , LRG_220t1:c.676A>T	NP_001121897.1:p.Ile226Phe
NM_001293190.1:c.637A>T	NP_001280119.1:p.Ile213Phe
NM_001293191.1:c.625A>T	NP_001280120.1:p.Ile209Phe
NM_001293192.1:c.316A>T	NP_001280121.1:p.Ile106Phe
NM_001293195.1:c.592A>T	NP_001280124.1:p.Ile198Phe
NM_001293196.1:c.316A>T	NP_001280125.1:p.Ile106Phe
NM_012222.2:c.667A>T	NP_036354.1:p.Ile223Phe
XM_011541497.1:c.652A>T	XP_011539799.1:p.Ile218Phe
XM_011541498.1:c.634A>T	XP_011539800.1:p.Ile212Phe
XM_011541499.1:c.634A>T	XP_011539801.1:p.Ile212Phe
XM_011541500.1:c.634A>T	XP_011539802.1:p.Ile212Phe
XM_011541501.1:c.634A>T	XP_011539803.1:p.Ile212Phe
XM_011541502.1:c.634A>T	XP_011539804.1:p.Ile212Phe
XM_011541503.1:c.634A>T	XP_011539805.1:p.Ile212Phe
XM_011541504.1:c.625A>T	XP_011539806.1:p.Ile209Phe
XM_011541505.1:c.214A>T	XP_011539807.1:p.Ile72Phe
XM_011541506.1:c.214A>T	XP_011539808.1:p.Ile72Phe
XM_011541507.1:c.205A>T	XP_011539809.1:p.Ile69Phe
XM_011541508.1:c.220A>T	XP_011539810.1:p.Ile74Phe
XR_946658.1:n.723A>T
NM_001350650.1:c.247A>T	NP_001337579.1:p.Ile83Phe
NM_001350651.1:c.247A>T	NP_001337580.1:p.Ile83Phe
NR_146882.1:n.850A>T
NR_146883.1:n.664A>T
XM_011541497.3:c.652A>T	XP_011539799.1:p.Ile218Phe
XM_011541500.3:c.634A>T	XP_011539802.1:p.Ile212Phe
XM_011541501.2:c.634A>T	XP_011539803.1:p.Ile212Phe
XM_011541502.2:c.634A>T	XP_011539804.1:p.Ile212Phe
XM_011541503.2:c.634A>T	XP_011539805.1:p.Ile212Phe
XM_011541504.2:c.625A>T	XP_011539806.1:p.Ile209Phe
XM_011541505.2:c.214A>T	XP_011539807.1:p.Ile72Phe
XM_011541506.2:c.214A>T	XP_011539808.1:p.Ile72Phe
XM_017001331.1:c.634A>T	XP_016856820.1:p.Ile212Phe
XM_017001332.1:c.634A>T	XP_016856821.1:p.Ile212Phe
XM_017001333.1:c.634A>T	XP_016856822.1:p.Ile212Phe
XM_017001334.1:c.595A>T	XP_016856823.1:p.Ile199Phe
XM_017001335.1:c.316A>T	XP_016856824.1:p.Ile106Phe
XM_017001336.1:c.247A>T	XP_016856825.1:p.Ile83Phe
XM_017001337.1:c.247A>T	XP_016856826.1:p.Ile83Phe
XM_024447244.1:c.247A>T	XP_024303012.1:p.Ile83Phe
XM_024447245.1:c.247A>T	XP_024303013.1:p.Ile83Phe
XM_024447248.1:c.205A>T	XP_024303016.1:p.Ile69Phe
XM_024447249.1:c.76A>T	XP_024303017.1:p.Ile26Phe
XM_024447250.1:c.76A>T	XP_024303018.1:p.Ile26Phe
XM_024447251.1:c.76A>T	XP_024303019.1:p.Ile26Phe
XR_001737190.1:n.637A>T
XR_001737192.1:n.449A>T
XR_002956643.1:n.629A>T
XR_002956644.1:n.1164A>T
XR_946658.2:n.737A>T
NM_001048171.2:c.592A>T	NP_001041636.2:p.Ile198Phe
NM_001128425.2:c.676A>T MANE Plus Clinical	NP_001121897.1:p.Ile226Phe
NM_001048172.2:c.595A>T	NP_001041637.1:p.Ile199Phe
NM_001048173.2:c.592A>T	NP_001041638.1:p.Ile198Phe
NM_001048174.2:c.592A>T MANE Select	NP_001041639.1:p.Ile198Phe
NM_001293190.2:c.637A>T	NP_001280119.1:p.Ile213Phe
NM_001293191.2:c.625A>T	NP_001280120.1:p.Ile209Phe
NM_001293192.2:c.316A>T	NP_001280121.1:p.Ile106Phe
NM_001293195.2:c.592A>T	NP_001280124.1:p.Ile198Phe
NM_001293196.2:c.316A>T	NP_001280125.1:p.Ile106Phe
NM_001350650.2:c.247A>T	NP_001337579.1:p.Ile83Phe
NM_001350651.2:c.247A>T	NP_001337580.1:p.Ile83Phe
NM_012222.3:c.667A>T	NP_036354.1:p.Ile223Phe
NR_146882.2:n.820A>T
NR_146883.2:n.669A>T