Canonical Allele Identifier: CA417880030

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 825346
• ClinVar RCV Id: RCV001023373 ; RCV003505162
• dbSNP Id: rs1570427362
• gnomAD v3: 1-45332924-G-A
• gnomAD v4: 1-45332924-G-A
• COSMIC: COSM4990576
• MyVariant Identifiers: chr1:g.45798596G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332924G>A , CM000663.2:g.45332924G>A	GRCh38
NC_000001.10:g.45798596G>A , CM000663.1:g.45798596G>A	GRCh37
NC_000001.9:g.45571183G>A	NCBI36
NG_008189.1:g.12547C>T , LRG_220:g.12547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.37-90C>T	ENSP00000410263.2:n.37-90C>T
ENST00000435155.2:c.447C>T	ENSP00000403655.2:p.Ser149=
ENST00000467459.6:c.414C>T	ENSP00000435889.2:p.Ser138=
ENST00000483127.2:c.432C>T	ENSP00000436469.2:p.Ser144=
ENST00000485271.6:c.414C>T	ENSP00000431264.2:p.Ser138=
ENST00000529892.6:c.456C>T	ENSP00000432528.2:p.Ser152=
ENST00000533178.6:c.116-237C>T	ENSP00000436430.2:n.116-237C>T
ENST00000672314.2:c.414C>T	ENSP00000500828.2:p.Ser138=
ENST00000674679.2:c.*326C>T	ENSP00000501623.2:n.*326C>T
ENST00000710952.2:c.498C>T MANE Plus Clinical	ENSP00000518552.2:p.Ser166=
ENST00000672818.3:c.489C>T	ENSP00000500891.1:p.Ser163=
ENST00000450313.6:c.424C>T	ENSP00000408176.2:p.Pro142Ser
ENST00000456914.7:c.414C>T MANE Select	ENSP00000407590.2:p.Ser138=
ENST00000461495.6:c.*153C>T	ENSP00000437166.1:n.*153C>T
ENST00000671856.1:n.360C>T
ENST00000671898.1:c.1002C>T	ENSP00000499896.1:p.Ser334=
ENST00000672011.1:c.382C>T	ENSP00000500418.1:p.Pro128Ser
ENST00000672314.1:c.414C>T	ENSP00000500828.1:p.Ser138=
ENST00000672593.1:c.*227C>T	ENSP00000500455.1:n.*227C>T
ENST00000672764.1:c.373C>T	ENSP00000500886.1:p.Pro125Ser
ENST00000672818.2:c.489C>T	ENSP00000500891.1:p.Ser163=
ENST00000673134.1:c.*118-90C>T	ENSP00000500526.1:n.*118-90C>T
ENST00000674679.1:c.442C>T	ENSP00000501623.1:n.442C>T
ENST00000354383.10:c.417C>T	ENSP00000346354.6:p.Ser139=
ENST00000355498.6:c.414C>T	ENSP00000347685.2:p.Ser138=
ENST00000372098.7:c.489C>T	ENSP00000361170.3:p.Ser163=
ENST00000372104.5:c.414C>T	ENSP00000361176.1:p.Ser138=
ENST00000372110.7:c.459C>T	ENSP00000361182.3:p.Ser153=
ENST00000372115.7:c.456C>T	ENSP00000361187.3:p.Ser152=
ENST00000412971.5:c.37-90C>T	ENSP00000410263.1:n.37-90C>T
ENST00000435155.1:c.447C>T	ENSP00000403655.1:p.Ser149=
ENST00000448481.5:c.447C>T	ENSP00000409718.1:p.Ser149=
ENST00000450313.5:c.498C>T	ENSP00000408176.1:p.Ser166=
ENST00000456914.6:c.414C>T	ENSP00000407590.2:p.Ser138=
ENST00000461495.5:c.*153C>T	ENSP00000437166.1:n.*153C>T
ENST00000462387.5:n.736C>T
ENST00000462388.5:n.22C>T
ENST00000467940.5:c.*337C>T	ENSP00000436478.1:n.*337C>T
ENST00000470256.5:c.308-90C>T	ENSP00000434985.1:n.308-90C>T
ENST00000475516.5:c.*227C>T	ENSP00000433843.1:n.*227C>T
ENST00000476789.5:n.771C>T
ENST00000478796.5:n.401C>T
ENST00000479746.6:n.614C>T
ENST00000481139.5:n.804C>T
ENST00000481571.5:c.*227C>T	ENSP00000436597.1:n.*227C>T
ENST00000483642.5:n.846C>T
ENST00000485484.5:n.715C>T
ENST00000488731.6:c.116-90C>T	ENSP00000432330.1:n.116-90C>T
ENST00000492494.5:n.728C>T
ENST00000525160.5:c.*65C>T	ENSP00000431568.1:n.*65C>T
ENST00000528013.6:c.456C>T	ENSP00000433130.2:p.Ser152=
ENST00000529984.5:c.116-90C>T	ENSP00000437093.1:n.116-90C>T
ENST00000531105.5:c.115+1467C>T	ENSP00000431292.1:n.115+1467C>T
ENST00000533178.5:c.122-237C>T	ENSP00000436430.1:n.122-237C>T
NM_001048171.1:c.456C>T	NP_001041636.1:p.Ser152=
NM_001048172.1:c.417C>T	NP_001041637.1:p.Ser139=
NM_001048173.1:c.414C>T	NP_001041638.1:p.Ser138=
NM_001048174.1:c.414C>T	NP_001041639.1:p.Ser138=
NM_001128425.1:c.498C>T , LRG_220t1:c.498C>T	NP_001121897.1:p.Ser166=
NM_001293190.1:c.459C>T	NP_001280119.1:p.Ser153=
NM_001293191.1:c.447C>T	NP_001280120.1:p.Ser149=
NM_001293192.1:c.138C>T	NP_001280121.1:p.Ser46=
NM_001293195.1:c.414C>T	NP_001280124.1:p.Ser138=
NM_001293196.1:c.138C>T	NP_001280125.1:p.Ser46=
NM_012222.2:c.489C>T	NP_036354.1:p.Ser163=
XM_011541497.1:c.474C>T	XP_011539799.1:p.Ser158=
XM_011541498.1:c.456C>T	XP_011539800.1:p.Ser152=
XM_011541499.1:c.456C>T	XP_011539801.1:p.Ser152=
XM_011541500.1:c.456C>T	XP_011539802.1:p.Ser152=
XM_011541501.1:c.456C>T	XP_011539803.1:p.Ser152=
XM_011541502.1:c.456C>T	XP_011539804.1:p.Ser152=
XM_011541503.1:c.463-90C>T	XP_011539805.1:n.463-90C>T
XM_011541504.1:c.447C>T	XP_011539806.1:p.Ser149=
XM_011541505.1:c.43-90C>T	XP_011539807.1:n.43-90C>T
XM_011541506.1:c.43-90C>T	XP_011539808.1:n.43-90C>T
XM_011541507.1:c.34-90C>T	XP_011539809.1:n.34-90C>T
XM_011541508.1:c.42C>T	XP_011539810.1:p.Ser14=
XR_946658.1:n.545C>T
NM_001350650.1:c.69C>T	NP_001337579.1:p.Ser23=
NM_001350651.1:c.69C>T	NP_001337580.1:p.Ser23=
NR_146882.1:n.672C>T
NR_146883.1:n.486C>T
XM_011541497.3:c.474C>T	XP_011539799.1:p.Ser158=
XM_011541500.3:c.456C>T	XP_011539802.1:p.Ser152=
XM_011541501.2:c.456C>T	XP_011539803.1:p.Ser152=
XM_011541502.2:c.456C>T	XP_011539804.1:p.Ser152=
XM_011541503.2:c.463-90C>T	XP_011539805.1:n.463-90C>T
XM_011541504.2:c.447C>T	XP_011539806.1:p.Ser149=
XM_011541505.2:c.43-90C>T	XP_011539807.1:n.43-90C>T
XM_011541506.2:c.43-90C>T	XP_011539808.1:n.43-90C>T
XM_017001331.1:c.456C>T	XP_016856820.1:p.Ser152=
XM_017001332.1:c.456C>T	XP_016856821.1:p.Ser152=
XM_017001333.1:c.456C>T	XP_016856822.1:p.Ser152=
XM_017001334.1:c.417C>T	XP_016856823.1:p.Ser139=
XM_017001335.1:c.138C>T	XP_016856824.1:p.Ser46=
XM_017001336.1:c.69C>T	XP_016856825.1:p.Ser23=
XM_017001337.1:c.69C>T	XP_016856826.1:p.Ser23=
XM_024447244.1:c.69C>T	XP_024303012.1:p.Ser23=
XM_024447245.1:c.69C>T	XP_024303013.1:p.Ser23=
XM_024447248.1:c.34-90C>T	XP_024303016.1:n.34-90C>T
XM_024447249.1:c.-103C>T	XP_024303017.1:n.-103C>T
XM_024447250.1:c.-103C>T	XP_024303018.1:n.-103C>T
XM_024447251.1:c.-186C>T	XP_024303019.1:n.-186C>T
XR_001737190.1:n.459C>T
XR_001737192.1:n.278-90C>T
XR_002956643.1:n.458-90C>T
XR_002956644.1:n.903C>T
XR_946658.2:n.559C>T
NM_001048171.2:c.414C>T	NP_001041636.2:p.Ser138=
NM_001128425.2:c.498C>T MANE Plus Clinical	NP_001121897.1:p.Ser166=
NM_001048172.2:c.417C>T	NP_001041637.1:p.Ser139=
NM_001048173.2:c.414C>T	NP_001041638.1:p.Ser138=
NM_001048174.2:c.414C>T MANE Select	NP_001041639.1:p.Ser138=
NM_001293190.2:c.459C>T	NP_001280119.1:p.Ser153=
NM_001293191.2:c.447C>T	NP_001280120.1:p.Ser149=
NM_001293192.2:c.138C>T	NP_001280121.1:p.Ser46=
NM_001293195.2:c.414C>T	NP_001280124.1:p.Ser138=
NM_001293196.2:c.138C>T	NP_001280125.1:p.Ser46=
NM_001350650.2:c.69C>T	NP_001337579.1:p.Ser23=
NM_001350651.2:c.69C>T	NP_001337580.1:p.Ser23=
NM_012222.3:c.489C>T	NP_036354.1:p.Ser163=
NR_146882.2:n.642C>T
NR_146883.2:n.491C>T