Canonical Allele Identifier: CA340134702

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 1009620
• ClinVar RCV Id: RCV001307136
• dbSNP Id: rs1645052808
• MyVariant Identifiers: chr1:g.45797968T>G (hg19) ; chr1:g.45332296T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332296T>G , CM000663.2:g.45332296T>G	GRCh38
NC_000001.10:g.45797968T>G , CM000663.1:g.45797968T>G	GRCh37
NC_000001.9:g.45570555T>G	NCBI36
NG_008189.1:g.13175A>C , LRG_220:g.13175A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.335A>C	ENSP00000410263.2:p.Gln112Pro
ENST00000435155.2:c.752A>C	ENSP00000403655.2:p.Gln251Pro
ENST00000467459.6:c.719A>C	ENSP00000435889.2:p.Gln240Pro
ENST00000483127.2:c.737A>C	ENSP00000436469.2:p.Gln246Pro
ENST00000485271.6:c.719A>C	ENSP00000431264.2:p.Gln240Pro
ENST00000529892.6:c.761A>C	ENSP00000432528.2:p.Gln254Pro
ENST00000533178.6:c.*48A>C	ENSP00000436430.2:n.*48A>C
ENST00000672314.2:c.719A>C	ENSP00000500828.2:p.Gln240Pro
ENST00000674679.2:c.*631A>C	ENSP00000501623.2:n.*631A>C
ENST00000710952.2:c.803A>C MANE Plus Clinical	ENSP00000518552.2:p.Gln268Pro
ENST00000672818.3:c.794A>C	ENSP00000500891.1:p.Gln265Pro
ENST00000450313.6:c.*48A>C	ENSP00000408176.2:n.*48A>C
ENST00000456914.7:c.719A>C MANE Select	ENSP00000407590.2:p.Gln240Pro
ENST00000461495.6:c.*458A>C	ENSP00000437166.1:n.*458A>C
ENST00000671898.1:c.1307A>C	ENSP00000499896.1:p.Gln436Pro
ENST00000672011.1:c.*48A>C	ENSP00000500418.1:n.*48A>C
ENST00000672314.1:c.719A>C	ENSP00000500828.1:p.Gln240Pro
ENST00000672593.1:c.*772A>C	ENSP00000500455.1:n.*772A>C
ENST00000672764.1:c.*48A>C	ENSP00000500886.1:n.*48A>C
ENST00000672818.2:c.794A>C	ENSP00000500891.1:p.Gln265Pro
ENST00000673134.1:c.*416A>C	ENSP00000500526.1:n.*416A>C
ENST00000674679.1:c.747A>C	ENSP00000501623.1:n.747A>C
ENST00000354383.10:c.722A>C	ENSP00000346354.6:p.Gln241Pro
ENST00000355498.6:c.719A>C	ENSP00000347685.2:p.Gln240Pro
ENST00000372098.7:c.794A>C	ENSP00000361170.3:p.Gln265Pro
ENST00000372104.5:c.719A>C	ENSP00000361176.1:p.Gln240Pro
ENST00000372110.7:c.764A>C	ENSP00000361182.3:p.Gln255Pro
ENST00000372115.7:c.761A>C	ENSP00000361187.3:p.Gln254Pro
ENST00000412971.5:c.335A>C	ENSP00000410263.1:p.Gln112Pro
ENST00000435155.1:c.752A>C	ENSP00000403655.1:p.Gln251Pro
ENST00000448481.5:c.752A>C	ENSP00000409718.1:p.Gln251Pro
ENST00000450313.5:c.803A>C	ENSP00000408176.1:p.Gln268Pro
ENST00000456914.6:c.719A>C	ENSP00000407590.2:p.Gln240Pro
ENST00000461495.5:c.*458A>C	ENSP00000437166.1:n.*458A>C
ENST00000462388.5:n.410A>C
ENST00000466231.1:n.84A>C
ENST00000467459.5:c.113A>C	ENSP00000435889.1:p.Gln38Pro
ENST00000467940.5:c.*642A>C	ENSP00000436478.1:n.*642A>C
ENST00000470256.5:c.*48A>C	ENSP00000434985.1:n.*48A>C
ENST00000475516.5:c.*532A>C	ENSP00000433843.1:n.*532A>C
ENST00000478796.5:n.706A>C
ENST00000481571.5:c.*532A>C	ENSP00000436597.1:n.*532A>C
ENST00000488731.6:c.187+467A>C	ENSP00000432330.1:n.187+467A>C
ENST00000528013.6:c.761A>C	ENSP00000433130.2:p.Gln254Pro
ENST00000529984.5:c.187+467A>C	ENSP00000437093.1:n.187+467A>C
ENST00000531105.5:c.115+2095A>C	ENSP00000431292.1:n.115+2095A>C
ENST00000533178.5:c.348A>C	ENSP00000436430.1:n.348A>C
NM_001048171.1:c.761A>C	NP_001041636.1:p.Gln254Pro
NM_001048172.1:c.722A>C	NP_001041637.1:p.Gln241Pro
NM_001048173.1:c.719A>C	NP_001041638.1:p.Gln240Pro
NM_001048174.1:c.719A>C	NP_001041639.1:p.Gln240Pro
NM_001128425.1:c.803A>C , LRG_220t1:c.803A>C	NP_001121897.1:p.Gln268Pro
NM_001293190.1:c.764A>C	NP_001280119.1:p.Gln255Pro
NM_001293191.1:c.752A>C	NP_001280120.1:p.Gln251Pro
NM_001293192.1:c.443A>C	NP_001280121.1:p.Gln148Pro
NM_001293195.1:c.719A>C	NP_001280124.1:p.Gln240Pro
NM_001293196.1:c.443A>C	NP_001280125.1:p.Gln148Pro
NM_012222.2:c.794A>C	NP_036354.1:p.Gln265Pro
XM_011541497.1:c.779A>C	XP_011539799.1:p.Gln260Pro
XM_011541498.1:c.761A>C	XP_011539800.1:p.Gln254Pro
XM_011541499.1:c.761A>C	XP_011539801.1:p.Gln254Pro
XM_011541500.1:c.761A>C	XP_011539802.1:p.Gln254Pro
XM_011541501.1:c.761A>C	XP_011539803.1:p.Gln254Pro
XM_011541502.1:c.761A>C	XP_011539804.1:p.Gln254Pro
XM_011541503.1:c.761A>C	XP_011539805.1:p.Gln254Pro
XM_011541504.1:c.752A>C	XP_011539806.1:p.Gln251Pro
XM_011541505.1:c.341A>C	XP_011539807.1:p.Gln114Pro
XM_011541506.1:c.341A>C	XP_011539808.1:p.Gln114Pro
XM_011541507.1:c.332A>C	XP_011539809.1:p.Gln111Pro
XM_011541508.1:c.347A>C	XP_011539810.1:p.Gln116Pro
XR_946658.1:n.850A>C
NM_001350650.1:c.374A>C	NP_001337579.1:p.Gln125Pro
NM_001350651.1:c.374A>C	NP_001337580.1:p.Gln125Pro
NR_146882.1:n.977A>C
NR_146883.1:n.791A>C
XM_011541497.3:c.779A>C	XP_011539799.1:p.Gln260Pro
XM_011541500.3:c.761A>C	XP_011539802.1:p.Gln254Pro
XM_011541501.2:c.761A>C	XP_011539803.1:p.Gln254Pro
XM_011541502.2:c.761A>C	XP_011539804.1:p.Gln254Pro
XM_011541503.2:c.761A>C	XP_011539805.1:p.Gln254Pro
XM_011541504.2:c.752A>C	XP_011539806.1:p.Gln251Pro
XM_011541505.2:c.341A>C	XP_011539807.1:p.Gln114Pro
XM_011541506.2:c.341A>C	XP_011539808.1:p.Gln114Pro
XM_017001331.1:c.761A>C	XP_016856820.1:p.Gln254Pro
XM_017001332.1:c.761A>C	XP_016856821.1:p.Gln254Pro
XM_017001333.1:c.761A>C	XP_016856822.1:p.Gln254Pro
XM_017001334.1:c.722A>C	XP_016856823.1:p.Gln241Pro
XM_017001335.1:c.443A>C	XP_016856824.1:p.Gln148Pro
XM_017001336.1:c.374A>C	XP_016856825.1:p.Gln125Pro
XM_017001337.1:c.374A>C	XP_016856826.1:p.Gln125Pro
XM_024447244.1:c.374A>C	XP_024303012.1:p.Gln125Pro
XM_024447245.1:c.374A>C	XP_024303013.1:p.Gln125Pro
XM_024447248.1:c.332A>C	XP_024303016.1:p.Gln111Pro
XM_024447249.1:c.203A>C	XP_024303017.1:p.Gln68Pro
XM_024447250.1:c.203A>C	XP_024303018.1:p.Gln68Pro
XM_024447251.1:c.203A>C	XP_024303019.1:p.Gln68Pro
XR_001737190.1:n.764A>C
XR_001737192.1:n.576A>C
XR_002956643.1:n.756A>C
XR_002956644.1:n.1291A>C
XR_946658.2:n.864A>C
NM_001048171.2:c.719A>C	NP_001041636.2:p.Gln240Pro
NM_001128425.2:c.803A>C MANE Plus Clinical	NP_001121897.1:p.Gln268Pro
NM_001048172.2:c.722A>C	NP_001041637.1:p.Gln241Pro
NM_001048173.2:c.719A>C	NP_001041638.1:p.Gln240Pro
NM_001048174.2:c.719A>C MANE Select	NP_001041639.1:p.Gln240Pro
NM_001293190.2:c.764A>C	NP_001280119.1:p.Gln255Pro
NM_001293191.2:c.752A>C	NP_001280120.1:p.Gln251Pro
NM_001293192.2:c.443A>C	NP_001280121.1:p.Gln148Pro
NM_001293195.2:c.719A>C	NP_001280124.1:p.Gln240Pro
NM_001293196.2:c.443A>C	NP_001280125.1:p.Gln148Pro
NM_001350650.2:c.374A>C	NP_001337579.1:p.Gln125Pro
NM_001350651.2:c.374A>C	NP_001337580.1:p.Gln125Pro
NM_012222.3:c.794A>C	NP_036354.1:p.Gln265Pro
NR_146882.2:n.947A>C
NR_146883.2:n.796A>C