Canonical Allele Identifier: CA340136332

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 631396
• ClinVar RCV Id: RCV000777589 ; RCV003614061
• dbSNP Id: rs587782683
• MyVariant Identifiers: chr1:g.45799086C>G (hg19) ; chr1:g.45333414C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45333414C>G , CM000663.2:g.45333414C>G	GRCh38
NC_000001.10:g.45799086C>G , CM000663.1:g.45799086C>G	GRCh37
NC_000001.9:g.45571673C>G	NCBI36
NG_008189.1:g.12057G>C , LRG_220:g.12057G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.37-580G>C	ENSP00000410263.2:n.37-580G>C
ENST00000435155.2:c.296G>C	ENSP00000403655.2:p.Arg99Pro
ENST00000467459.6:c.263G>C	ENSP00000435889.2:p.Arg88Pro
ENST00000483127.2:c.281G>C	ENSP00000436469.2:p.Arg94Pro
ENST00000485271.6:c.263G>C	ENSP00000431264.2:p.Arg88Pro
ENST00000529892.6:c.305G>C	ENSP00000432528.2:p.Arg102Pro
ENST00000533178.6:c.116-727G>C	ENSP00000436430.2:n.116-727G>C
ENST00000672314.2:c.263G>C	ENSP00000500828.2:p.Arg88Pro
ENST00000674679.2:c.*175G>C	ENSP00000501623.2:n.*175G>C
ENST00000710952.2:c.347G>C MANE Plus Clinical	ENSP00000518552.2:p.Arg116Pro
ENST00000672818.3:c.338G>C	ENSP00000500891.1:p.Arg113Pro
ENST00000450313.6:c.347G>C	ENSP00000408176.2:p.Arg116Pro
ENST00000456914.7:c.263G>C MANE Select	ENSP00000407590.2:p.Arg88Pro
ENST00000461495.6:c.*76G>C	ENSP00000437166.1:n.*76G>C
ENST00000671856.1:n.283G>C
ENST00000671898.1:c.851G>C	ENSP00000499896.1:p.Arg284Pro
ENST00000672011.1:c.305G>C	ENSP00000500418.1:p.Arg102Pro
ENST00000672314.1:c.263G>C	ENSP00000500828.1:p.Arg88Pro
ENST00000672593.1:c.*76G>C	ENSP00000500455.1:n.*76G>C
ENST00000672764.1:c.296G>C	ENSP00000500886.1:p.Arg99Pro
ENST00000672818.2:c.338G>C	ENSP00000500891.1:p.Arg113Pro
ENST00000673134.1:c.*76G>C	ENSP00000500526.1:n.*76G>C
ENST00000674679.1:c.291G>C	ENSP00000501623.1:n.291G>C
ENST00000354383.10:c.266G>C	ENSP00000346354.6:p.Arg89Pro
ENST00000355498.6:c.263G>C	ENSP00000347685.2:p.Arg88Pro
ENST00000372098.7:c.338G>C	ENSP00000361170.3:p.Arg113Pro
ENST00000372104.5:c.263G>C	ENSP00000361176.1:p.Arg88Pro
ENST00000372110.7:c.308G>C	ENSP00000361182.3:p.Arg103Pro
ENST00000372115.7:c.305G>C	ENSP00000361187.3:p.Arg102Pro
ENST00000412971.5:c.37-580G>C	ENSP00000410263.1:n.37-580G>C
ENST00000435155.1:c.296G>C	ENSP00000403655.1:p.Arg99Pro
ENST00000448481.5:c.296G>C	ENSP00000409718.1:p.Arg99Pro
ENST00000450313.5:c.347G>C	ENSP00000408176.1:p.Arg116Pro
ENST00000456914.6:c.263G>C	ENSP00000407590.2:p.Arg88Pro
ENST00000461495.5:c.*76G>C	ENSP00000437166.1:n.*76G>C
ENST00000462387.5:n.336-90G>C
ENST00000467940.5:c.*186G>C	ENSP00000436478.1:n.*186G>C
ENST00000470256.5:c.266G>C	ENSP00000434985.1:p.Arg89Pro
ENST00000474703.1:n.418G>C
ENST00000475516.5:c.*76G>C	ENSP00000433843.1:n.*76G>C
ENST00000476789.5:n.483G>C
ENST00000479746.6:n.326G>C
ENST00000481139.5:n.402G>C
ENST00000481571.5:c.*76G>C	ENSP00000436597.1:n.*76G>C
ENST00000483127.1:c.281G>C	ENSP00000436469.1:p.Arg94Pro
ENST00000483642.5:n.444G>C
ENST00000485484.5:n.313G>C
ENST00000488731.6:c.116-580G>C	ENSP00000432330.1:n.116-580G>C
ENST00000492494.5:n.326G>C
ENST00000525160.5:c.158-90G>C	ENSP00000431568.1:n.158-90G>C
ENST00000528013.6:c.305G>C	ENSP00000433130.2:p.Arg102Pro
ENST00000529984.5:c.116-580G>C	ENSP00000437093.1:n.116-580G>C
ENST00000531105.5:c.115+977G>C	ENSP00000431292.1:n.115+977G>C
ENST00000533178.5:c.122-727G>C	ENSP00000436430.1:n.122-727G>C
NM_001048171.1:c.305G>C	NP_001041636.1:p.Arg102Pro
NM_001048172.1:c.266G>C	NP_001041637.1:p.Arg89Pro
NM_001048173.1:c.263G>C	NP_001041638.1:p.Arg88Pro
NM_001048174.1:c.263G>C	NP_001041639.1:p.Arg88Pro
NM_001128425.1:c.347G>C , LRG_220t1:c.347G>C	NP_001121897.1:p.Arg116Pro
NM_001293190.1:c.308G>C	NP_001280119.1:p.Arg103Pro
NM_001293191.1:c.296G>C	NP_001280120.1:p.Arg99Pro
NM_001293192.1:c.-14G>C	NP_001280121.1:n.-14G>C
NM_001293195.1:c.263G>C	NP_001280124.1:p.Arg88Pro
NM_001293196.1:c.-14G>C	NP_001280125.1:n.-14G>C
NM_012222.2:c.338G>C	NP_036354.1:p.Arg113Pro
XM_011541497.1:c.323G>C	XP_011539799.1:p.Arg108Pro
XM_011541498.1:c.305G>C	XP_011539800.1:p.Arg102Pro
XM_011541499.1:c.305G>C	XP_011539801.1:p.Arg102Pro
XM_011541500.1:c.305G>C	XP_011539802.1:p.Arg102Pro
XM_011541501.1:c.305G>C	XP_011539803.1:p.Arg102Pro
XM_011541502.1:c.305G>C	XP_011539804.1:p.Arg102Pro
XM_011541503.1:c.347G>C	XP_011539805.1:p.Arg116Pro
XM_011541504.1:c.296G>C	XP_011539806.1:p.Arg99Pro
XM_011541505.1:c.43-580G>C	XP_011539807.1:n.43-580G>C
XM_011541506.1:c.43-580G>C	XP_011539808.1:n.43-580G>C
XR_946658.1:n.394G>C
NM_001350650.1:c.-9G>C	NP_001337579.1:n.-9G>C
NM_001350651.1:c.-9G>C	NP_001337580.1:n.-9G>C
NR_146882.1:n.521G>C
NR_146883.1:n.409G>C
XM_011541497.3:c.323G>C	XP_011539799.1:p.Arg108Pro
XM_011541500.3:c.305G>C	XP_011539802.1:p.Arg102Pro
XM_011541501.2:c.305G>C	XP_011539803.1:p.Arg102Pro
XM_011541502.2:c.305G>C	XP_011539804.1:p.Arg102Pro
XM_011541503.2:c.347G>C	XP_011539805.1:p.Arg116Pro
XM_011541504.2:c.296G>C	XP_011539806.1:p.Arg99Pro
XM_011541505.2:c.43-580G>C	XP_011539807.1:n.43-580G>C
XM_011541506.2:c.43-580G>C	XP_011539808.1:n.43-580G>C
XM_017001331.1:c.305G>C	XP_016856820.1:p.Arg102Pro
XM_017001332.1:c.305G>C	XP_016856821.1:p.Arg102Pro
XM_017001333.1:c.305G>C	XP_016856822.1:p.Arg102Pro
XM_017001334.1:c.266G>C	XP_016856823.1:p.Arg89Pro
XM_017001335.1:c.-14G>C	XP_016856824.1:n.-14G>C
XM_017001336.1:c.-9G>C	XP_016856825.1:n.-9G>C
XM_017001337.1:c.-9G>C	XP_016856826.1:n.-9G>C
XM_024447244.1:c.-9G>C	XP_024303012.1:n.-9G>C
XM_024447245.1:c.-9G>C	XP_024303013.1:n.-9G>C
XM_024447248.1:c.-9G>C	XP_024303016.1:n.-9G>C
XM_024447249.1:c.-505G>C	XP_024303017.1:n.-505G>C
XM_024447250.1:c.-505G>C	XP_024303018.1:n.-505G>C
XM_024447251.1:c.-263G>C	XP_024303019.1:n.-263G>C
XR_001737190.1:n.308G>C
XR_001737192.1:n.236G>C
XR_002956643.1:n.416G>C
XR_002956644.1:n.501G>C
XR_946658.2:n.408G>C
NM_001048171.2:c.263G>C	NP_001041636.2:p.Arg88Pro
NM_001128425.2:c.347G>C MANE Plus Clinical	NP_001121897.1:p.Arg116Pro
NM_001048172.2:c.266G>C	NP_001041637.1:p.Arg89Pro
NM_001048173.2:c.263G>C	NP_001041638.1:p.Arg88Pro
NM_001048174.2:c.263G>C MANE Select	NP_001041639.1:p.Arg88Pro
NM_001293190.2:c.308G>C	NP_001280119.1:p.Arg103Pro
NM_001293191.2:c.296G>C	NP_001280120.1:p.Arg99Pro
NM_001293192.2:c.-14G>C	NP_001280121.1:n.-14G>C
NM_001293195.2:c.263G>C	NP_001280124.1:p.Arg88Pro
NM_001293196.2:c.-14G>C	NP_001280125.1:n.-14G>C
NM_001350650.2:c.-9G>C	NP_001337579.1:n.-9G>C
NM_001350651.2:c.-9G>C	NP_001337580.1:n.-9G>C
NM_012222.3:c.338G>C	NP_036354.1:p.Arg113Pro
NR_146882.2:n.491G>C
NR_146883.2:n.414G>C