Canonical Allele Identifier: CA340135386

Gene: MUTYH

Linked Data

• MyVariant Identifiers: chr1:g.45798317T>A (hg19) ; chr1:g.45332645T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332645T>A , CM000663.2:g.45332645T>A	GRCh38
NC_000001.10:g.45798317T>A , CM000663.1:g.45798317T>A	GRCh37
NC_000001.9:g.45570904T>A	NCBI36
NG_008189.1:g.12826A>T , LRG_220:g.12826A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.151A>T	ENSP00000410263.2:p.Thr51Ser
ENST00000435155.2:c.568A>T	ENSP00000403655.2:p.Thr190Ser
ENST00000467459.6:c.535A>T	ENSP00000435889.2:p.Thr179Ser
ENST00000483127.2:c.553A>T	ENSP00000436469.2:p.Thr185Ser
ENST00000485271.6:c.535A>T	ENSP00000431264.2:p.Thr179Ser
ENST00000529892.6:c.577A>T	ENSP00000432528.2:p.Thr193Ser
ENST00000533178.6:c.158A>T	ENSP00000436430.2:p.Asp53Val
ENST00000672314.2:c.535A>T	ENSP00000500828.2:p.Thr179Ser
ENST00000674679.2:c.*447A>T	ENSP00000501623.2:n.*447A>T
ENST00000710952.2:c.619A>T MANE Plus Clinical	ENSP00000518552.2:p.Thr207Ser
ENST00000672818.3:c.610A>T	ENSP00000500891.1:p.Thr204Ser
ENST00000450313.6:c.545A>T	ENSP00000408176.2:p.Asp182Val
ENST00000456914.7:c.535A>T MANE Select	ENSP00000407590.2:p.Thr179Ser
ENST00000461495.6:c.*274A>T	ENSP00000437166.1:n.*274A>T
ENST00000671856.1:n.481A>T
ENST00000671898.1:c.1123A>T	ENSP00000499896.1:p.Thr375Ser
ENST00000672011.1:c.503A>T	ENSP00000500418.1:p.Asp168Val
ENST00000672314.1:c.535A>T	ENSP00000500828.1:p.Thr179Ser
ENST00000672593.1:c.*423A>T	ENSP00000500455.1:n.*423A>T
ENST00000672764.1:c.494A>T	ENSP00000500886.1:p.Asp165Val
ENST00000672818.2:c.610A>T	ENSP00000500891.1:p.Thr204Ser
ENST00000673134.1:c.*232A>T	ENSP00000500526.1:n.*232A>T
ENST00000674679.1:c.563A>T	ENSP00000501623.1:n.563A>T
ENST00000354383.10:c.538A>T	ENSP00000346354.6:p.Thr180Ser
ENST00000355498.6:c.535A>T	ENSP00000347685.2:p.Thr179Ser
ENST00000372098.7:c.610A>T	ENSP00000361170.3:p.Thr204Ser
ENST00000372104.5:c.535A>T	ENSP00000361176.1:p.Thr179Ser
ENST00000372110.7:c.580A>T	ENSP00000361182.3:p.Thr194Ser
ENST00000372115.7:c.577A>T	ENSP00000361187.3:p.Thr193Ser
ENST00000412971.5:c.151A>T	ENSP00000410263.1:p.Thr51Ser
ENST00000435155.1:c.568A>T	ENSP00000403655.1:p.Thr190Ser
ENST00000448481.5:c.568A>T	ENSP00000409718.1:p.Thr190Ser
ENST00000450313.5:c.619A>T	ENSP00000408176.1:p.Thr207Ser
ENST00000456914.6:c.535A>T	ENSP00000407590.2:p.Thr179Ser
ENST00000461495.5:c.*274A>T	ENSP00000437166.1:n.*274A>T
ENST00000462388.5:n.226A>T
ENST00000467940.5:c.*458A>T	ENSP00000436478.1:n.*458A>T
ENST00000470256.5:c.422A>T	ENSP00000434985.1:p.Asp141Val
ENST00000475516.5:c.*348A>T	ENSP00000433843.1:n.*348A>T
ENST00000478796.5:n.522A>T
ENST00000479746.6:n.893A>T
ENST00000481571.5:c.*348A>T	ENSP00000436597.1:n.*348A>T
ENST00000483642.5:n.1050A>T
ENST00000488731.6:c.187+118A>T	ENSP00000432330.1:n.187+118A>T
ENST00000492494.5:n.932A>T
ENST00000525160.5:c.*186A>T	ENSP00000431568.1:n.*186A>T
ENST00000528013.6:c.577A>T	ENSP00000433130.2:p.Thr193Ser
ENST00000529984.5:c.187+118A>T	ENSP00000437093.1:n.187+118A>T
ENST00000531105.5:c.115+1746A>T	ENSP00000431292.1:n.115+1746A>T
ENST00000533178.5:c.164A>T	ENSP00000436430.1:p.Asp55Val
NM_001048171.1:c.577A>T	NP_001041636.1:p.Thr193Ser
NM_001048172.1:c.538A>T	NP_001041637.1:p.Thr180Ser
NM_001048173.1:c.535A>T	NP_001041638.1:p.Thr179Ser
NM_001048174.1:c.535A>T	NP_001041639.1:p.Thr179Ser
NM_001128425.1:c.619A>T , LRG_220t1:c.619A>T	NP_001121897.1:p.Thr207Ser
NM_001293190.1:c.580A>T	NP_001280119.1:p.Thr194Ser
NM_001293191.1:c.568A>T	NP_001280120.1:p.Thr190Ser
NM_001293192.1:c.259A>T	NP_001280121.1:p.Thr87Ser
NM_001293195.1:c.535A>T	NP_001280124.1:p.Thr179Ser
NM_001293196.1:c.259A>T	NP_001280125.1:p.Thr87Ser
NM_012222.2:c.610A>T	NP_036354.1:p.Thr204Ser
XM_011541497.1:c.595A>T	XP_011539799.1:p.Thr199Ser
XM_011541498.1:c.577A>T	XP_011539800.1:p.Thr193Ser
XM_011541499.1:c.577A>T	XP_011539801.1:p.Thr193Ser
XM_011541500.1:c.577A>T	XP_011539802.1:p.Thr193Ser
XM_011541501.1:c.577A>T	XP_011539803.1:p.Thr193Ser
XM_011541502.1:c.577A>T	XP_011539804.1:p.Thr193Ser
XM_011541503.1:c.577A>T	XP_011539805.1:p.Thr193Ser
XM_011541504.1:c.568A>T	XP_011539806.1:p.Thr190Ser
XM_011541505.1:c.157A>T	XP_011539807.1:p.Thr53Ser
XM_011541506.1:c.157A>T	XP_011539808.1:p.Thr53Ser
XM_011541507.1:c.148A>T	XP_011539809.1:p.Thr50Ser
XM_011541508.1:c.163A>T	XP_011539810.1:p.Thr55Ser
XR_946658.1:n.666A>T
NM_001350650.1:c.190A>T	NP_001337579.1:p.Thr64Ser
NM_001350651.1:c.190A>T	NP_001337580.1:p.Thr64Ser
NR_146882.1:n.793A>T
NR_146883.1:n.607A>T
XM_011541497.3:c.595A>T	XP_011539799.1:p.Thr199Ser
XM_011541500.3:c.577A>T	XP_011539802.1:p.Thr193Ser
XM_011541501.2:c.577A>T	XP_011539803.1:p.Thr193Ser
XM_011541502.2:c.577A>T	XP_011539804.1:p.Thr193Ser
XM_011541503.2:c.577A>T	XP_011539805.1:p.Thr193Ser
XM_011541504.2:c.568A>T	XP_011539806.1:p.Thr190Ser
XM_011541505.2:c.157A>T	XP_011539807.1:p.Thr53Ser
XM_011541506.2:c.157A>T	XP_011539808.1:p.Thr53Ser
XM_017001331.1:c.577A>T	XP_016856820.1:p.Thr193Ser
XM_017001332.1:c.577A>T	XP_016856821.1:p.Thr193Ser
XM_017001333.1:c.577A>T	XP_016856822.1:p.Thr193Ser
XM_017001334.1:c.538A>T	XP_016856823.1:p.Thr180Ser
XM_017001335.1:c.259A>T	XP_016856824.1:p.Thr87Ser
XM_017001336.1:c.190A>T	XP_016856825.1:p.Thr64Ser
XM_017001337.1:c.190A>T	XP_016856826.1:p.Thr64Ser
XM_024447244.1:c.190A>T	XP_024303012.1:p.Thr64Ser
XM_024447245.1:c.190A>T	XP_024303013.1:p.Thr64Ser
XM_024447248.1:c.148A>T	XP_024303016.1:p.Thr50Ser
XM_024447249.1:c.19A>T	XP_024303017.1:p.Thr7Ser
XM_024447250.1:c.19A>T	XP_024303018.1:p.Thr7Ser
XM_024447251.1:c.19A>T	XP_024303019.1:p.Thr7Ser
XR_001737190.1:n.580A>T
XR_001737192.1:n.392A>T
XR_002956643.1:n.572A>T
XR_002956644.1:n.1107A>T
XR_946658.2:n.680A>T
NM_001048171.2:c.535A>T	NP_001041636.2:p.Thr179Ser
NM_001128425.2:c.619A>T MANE Plus Clinical	NP_001121897.1:p.Thr207Ser
NM_001048172.2:c.538A>T	NP_001041637.1:p.Thr180Ser
NM_001048173.2:c.535A>T	NP_001041638.1:p.Thr179Ser
NM_001048174.2:c.535A>T MANE Select	NP_001041639.1:p.Thr179Ser
NM_001293190.2:c.580A>T	NP_001280119.1:p.Thr194Ser
NM_001293191.2:c.568A>T	NP_001280120.1:p.Thr190Ser
NM_001293192.2:c.259A>T	NP_001280121.1:p.Thr87Ser
NM_001293195.2:c.535A>T	NP_001280124.1:p.Thr179Ser
NM_001293196.2:c.259A>T	NP_001280125.1:p.Thr87Ser
NM_001350650.2:c.190A>T	NP_001337579.1:p.Thr64Ser
NM_001350651.2:c.190A>T	NP_001337580.1:p.Thr64Ser
NM_012222.3:c.610A>T	NP_036354.1:p.Thr204Ser
NR_146882.2:n.763A>T
NR_146883.2:n.612A>T