Canonical Allele Identifier: CA058442

Gene: MUTYH

Linked Data

• dbSNP Id: rs749896967
• ExAC: 1:45798316 G / A
• gnomAD v2: 1-45798316-G-A
• gnomAD v4: 1-45332644-G-A
• MyVariant Identifiers: chr1:g.45798316G>A (hg19) ; chr1:g.45332644G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332644G>A , CM000663.2:g.45332644G>A	GRCh38
NC_000001.10:g.45798316G>A , CM000663.1:g.45798316G>A	GRCh37
NC_000001.9:g.45570903G>A	NCBI36
NG_008189.1:g.12827C>T , LRG_220:g.12827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.152C>T	ENSP00000410263.2:p.Thr51Ile
ENST00000435155.2:c.569C>T	ENSP00000403655.2:p.Thr190Ile
ENST00000467459.6:c.536C>T	ENSP00000435889.2:p.Thr179Ile
ENST00000483127.2:c.554C>T	ENSP00000436469.2:p.Thr185Ile
ENST00000485271.6:c.536C>T	ENSP00000431264.2:p.Thr179Ile
ENST00000529892.6:c.578C>T	ENSP00000432528.2:p.Thr193Ile
ENST00000533178.6:c.159C>T	ENSP00000436430.2:p.Asp53=
ENST00000672314.2:c.536C>T	ENSP00000500828.2:p.Thr179Ile
ENST00000674679.2:c.*448C>T	ENSP00000501623.2:n.*448C>T
ENST00000710952.2:c.620C>T MANE Plus Clinical	ENSP00000518552.2:p.Thr207Ile
ENST00000672818.3:c.611C>T	ENSP00000500891.1:p.Thr204Ile
ENST00000450313.6:c.546C>T	ENSP00000408176.2:p.Asp182=
ENST00000456914.7:c.536C>T MANE Select	ENSP00000407590.2:p.Thr179Ile
ENST00000461495.6:c.*275C>T	ENSP00000437166.1:n.*275C>T
ENST00000671856.1:n.482C>T
ENST00000671898.1:c.1124C>T	ENSP00000499896.1:p.Thr375Ile
ENST00000672011.1:c.504C>T	ENSP00000500418.1:p.Asp168=
ENST00000672314.1:c.536C>T	ENSP00000500828.1:p.Thr179Ile
ENST00000672593.1:c.*424C>T	ENSP00000500455.1:n.*424C>T
ENST00000672764.1:c.495C>T	ENSP00000500886.1:p.Asp165=
ENST00000672818.2:c.611C>T	ENSP00000500891.1:p.Thr204Ile
ENST00000673134.1:c.*233C>T	ENSP00000500526.1:n.*233C>T
ENST00000674679.1:c.564C>T	ENSP00000501623.1:n.564C>T
ENST00000354383.10:c.539C>T	ENSP00000346354.6:p.Thr180Ile
ENST00000355498.6:c.536C>T	ENSP00000347685.2:p.Thr179Ile
ENST00000372098.7:c.611C>T	ENSP00000361170.3:p.Thr204Ile
ENST00000372104.5:c.536C>T	ENSP00000361176.1:p.Thr179Ile
ENST00000372110.7:c.581C>T	ENSP00000361182.3:p.Thr194Ile
ENST00000372115.7:c.578C>T	ENSP00000361187.3:p.Thr193Ile
ENST00000412971.5:c.152C>T	ENSP00000410263.1:p.Thr51Ile
ENST00000435155.1:c.569C>T	ENSP00000403655.1:p.Thr190Ile
ENST00000448481.5:c.569C>T	ENSP00000409718.1:p.Thr190Ile
ENST00000450313.5:c.620C>T	ENSP00000408176.1:p.Thr207Ile
ENST00000456914.6:c.536C>T	ENSP00000407590.2:p.Thr179Ile
ENST00000461495.5:c.*275C>T	ENSP00000437166.1:n.*275C>T
ENST00000462388.5:n.227C>T
ENST00000467940.5:c.*459C>T	ENSP00000436478.1:n.*459C>T
ENST00000470256.5:c.423C>T	ENSP00000434985.1:p.Asp141=
ENST00000475516.5:c.*349C>T	ENSP00000433843.1:n.*349C>T
ENST00000478796.5:n.523C>T
ENST00000479746.6:n.894C>T
ENST00000481571.5:c.*349C>T	ENSP00000436597.1:n.*349C>T
ENST00000483642.5:n.1051C>T
ENST00000488731.6:c.187+119C>T	ENSP00000432330.1:n.187+119C>T
ENST00000492494.5:n.933C>T
ENST00000525160.5:c.*187C>T	ENSP00000431568.1:n.*187C>T
ENST00000528013.6:c.578C>T	ENSP00000433130.2:p.Thr193Ile
ENST00000529984.5:c.187+119C>T	ENSP00000437093.1:n.187+119C>T
ENST00000531105.5:c.115+1747C>T	ENSP00000431292.1:n.115+1747C>T
ENST00000533178.5:c.165C>T	ENSP00000436430.1:p.Asp55=
NM_001048171.1:c.578C>T	NP_001041636.1:p.Thr193Ile
NM_001048172.1:c.539C>T	NP_001041637.1:p.Thr180Ile
NM_001048173.1:c.536C>T	NP_001041638.1:p.Thr179Ile
NM_001048174.1:c.536C>T	NP_001041639.1:p.Thr179Ile
NM_001128425.1:c.620C>T , LRG_220t1:c.620C>T	NP_001121897.1:p.Thr207Ile
NM_001293190.1:c.581C>T	NP_001280119.1:p.Thr194Ile
NM_001293191.1:c.569C>T	NP_001280120.1:p.Thr190Ile
NM_001293192.1:c.260C>T	NP_001280121.1:p.Thr87Ile
NM_001293195.1:c.536C>T	NP_001280124.1:p.Thr179Ile
NM_001293196.1:c.260C>T	NP_001280125.1:p.Thr87Ile
NM_012222.2:c.611C>T	NP_036354.1:p.Thr204Ile
XM_011541497.1:c.596C>T	XP_011539799.1:p.Thr199Ile
XM_011541498.1:c.578C>T	XP_011539800.1:p.Thr193Ile
XM_011541499.1:c.578C>T	XP_011539801.1:p.Thr193Ile
XM_011541500.1:c.578C>T	XP_011539802.1:p.Thr193Ile
XM_011541501.1:c.578C>T	XP_011539803.1:p.Thr193Ile
XM_011541502.1:c.578C>T	XP_011539804.1:p.Thr193Ile
XM_011541503.1:c.578C>T	XP_011539805.1:p.Thr193Ile
XM_011541504.1:c.569C>T	XP_011539806.1:p.Thr190Ile
XM_011541505.1:c.158C>T	XP_011539807.1:p.Thr53Ile
XM_011541506.1:c.158C>T	XP_011539808.1:p.Thr53Ile
XM_011541507.1:c.149C>T	XP_011539809.1:p.Thr50Ile
XM_011541508.1:c.164C>T	XP_011539810.1:p.Thr55Ile
XR_946658.1:n.667C>T
NM_001350650.1:c.191C>T	NP_001337579.1:p.Thr64Ile
NM_001350651.1:c.191C>T	NP_001337580.1:p.Thr64Ile
NR_146882.1:n.794C>T
NR_146883.1:n.608C>T
XM_011541497.3:c.596C>T	XP_011539799.1:p.Thr199Ile
XM_011541500.3:c.578C>T	XP_011539802.1:p.Thr193Ile
XM_011541501.2:c.578C>T	XP_011539803.1:p.Thr193Ile
XM_011541502.2:c.578C>T	XP_011539804.1:p.Thr193Ile
XM_011541503.2:c.578C>T	XP_011539805.1:p.Thr193Ile
XM_011541504.2:c.569C>T	XP_011539806.1:p.Thr190Ile
XM_011541505.2:c.158C>T	XP_011539807.1:p.Thr53Ile
XM_011541506.2:c.158C>T	XP_011539808.1:p.Thr53Ile
XM_017001331.1:c.578C>T	XP_016856820.1:p.Thr193Ile
XM_017001332.1:c.578C>T	XP_016856821.1:p.Thr193Ile
XM_017001333.1:c.578C>T	XP_016856822.1:p.Thr193Ile
XM_017001334.1:c.539C>T	XP_016856823.1:p.Thr180Ile
XM_017001335.1:c.260C>T	XP_016856824.1:p.Thr87Ile
XM_017001336.1:c.191C>T	XP_016856825.1:p.Thr64Ile
XM_017001337.1:c.191C>T	XP_016856826.1:p.Thr64Ile
XM_024447244.1:c.191C>T	XP_024303012.1:p.Thr64Ile
XM_024447245.1:c.191C>T	XP_024303013.1:p.Thr64Ile
XM_024447248.1:c.149C>T	XP_024303016.1:p.Thr50Ile
XM_024447249.1:c.20C>T	XP_024303017.1:p.Thr7Ile
XM_024447250.1:c.20C>T	XP_024303018.1:p.Thr7Ile
XM_024447251.1:c.20C>T	XP_024303019.1:p.Thr7Ile
XR_001737190.1:n.581C>T
XR_001737192.1:n.393C>T
XR_002956643.1:n.573C>T
XR_002956644.1:n.1108C>T
XR_946658.2:n.681C>T
NM_001048171.2:c.536C>T	NP_001041636.2:p.Thr179Ile
NM_001128425.2:c.620C>T MANE Plus Clinical	NP_001121897.1:p.Thr207Ile
NM_001048172.2:c.539C>T	NP_001041637.1:p.Thr180Ile
NM_001048173.2:c.536C>T	NP_001041638.1:p.Thr179Ile
NM_001048174.2:c.536C>T MANE Select	NP_001041639.1:p.Thr179Ile
NM_001293190.2:c.581C>T	NP_001280119.1:p.Thr194Ile
NM_001293191.2:c.569C>T	NP_001280120.1:p.Thr190Ile
NM_001293192.2:c.260C>T	NP_001280121.1:p.Thr87Ile
NM_001293195.2:c.536C>T	NP_001280124.1:p.Thr179Ile
NM_001293196.2:c.260C>T	NP_001280125.1:p.Thr87Ile
NM_001350650.2:c.191C>T	NP_001337579.1:p.Thr64Ile
NM_001350651.2:c.191C>T	NP_001337580.1:p.Thr64Ile
NM_012222.3:c.611C>T	NP_036354.1:p.Thr204Ile
NR_146882.2:n.764C>T
NR_146883.2:n.613C>T