Canonical Allele Identifier: CA340136034

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 3233043
• ClinVar RCV Id: RCV004523675
• MyVariant Identifiers: chr1:g.45798630T>C (hg19) ; chr1:g.45332958T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332958T>C , CM000663.2:g.45332958T>C	GRCh38
NC_000001.10:g.45798630T>C , CM000663.1:g.45798630T>C	GRCh37
NC_000001.9:g.45571217T>C	NCBI36
NG_008189.1:g.12513A>G , LRG_220:g.12513A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.37-124A>G	ENSP00000410263.2:n.37-124A>G
ENST00000435155.2:c.413A>G	ENSP00000403655.2:p.Lys138Arg
ENST00000467459.6:c.380A>G	ENSP00000435889.2:p.Lys127Arg
ENST00000483127.2:c.398A>G	ENSP00000436469.2:p.Lys133Arg
ENST00000485271.6:c.380A>G	ENSP00000431264.2:p.Lys127Arg
ENST00000529892.6:c.422A>G	ENSP00000432528.2:p.Lys141Arg
ENST00000533178.6:c.116-271A>G	ENSP00000436430.2:n.116-271A>G
ENST00000672314.2:c.380A>G	ENSP00000500828.2:p.Lys127Arg
ENST00000674679.2:c.*292A>G	ENSP00000501623.2:n.*292A>G
ENST00000710952.2:c.464A>G MANE Plus Clinical	ENSP00000518552.2:p.Lys155Arg
ENST00000672818.3:c.455A>G	ENSP00000500891.1:p.Lys152Arg
ENST00000450313.6:c.390A>G	ENSP00000408176.2:p.Glu130=
ENST00000456914.7:c.380A>G MANE Select	ENSP00000407590.2:p.Lys127Arg
ENST00000461495.6:c.*119A>G	ENSP00000437166.1:n.*119A>G
ENST00000671856.1:n.326A>G
ENST00000671898.1:c.968A>G	ENSP00000499896.1:p.Lys323Arg
ENST00000672011.1:c.348A>G	ENSP00000500418.1:p.Glu116=
ENST00000672314.1:c.380A>G	ENSP00000500828.1:p.Lys127Arg
ENST00000672593.1:c.*193A>G	ENSP00000500455.1:n.*193A>G
ENST00000672764.1:c.339A>G	ENSP00000500886.1:p.Glu113=
ENST00000672818.2:c.455A>G	ENSP00000500891.1:p.Lys152Arg
ENST00000673134.1:c.*118-124A>G	ENSP00000500526.1:n.*118-124A>G
ENST00000674679.1:c.408A>G	ENSP00000501623.1:n.408A>G
ENST00000354383.10:c.383A>G	ENSP00000346354.6:p.Lys128Arg
ENST00000355498.6:c.380A>G	ENSP00000347685.2:p.Lys127Arg
ENST00000372098.7:c.455A>G	ENSP00000361170.3:p.Lys152Arg
ENST00000372104.5:c.380A>G	ENSP00000361176.1:p.Lys127Arg
ENST00000372110.7:c.425A>G	ENSP00000361182.3:p.Lys142Arg
ENST00000372115.7:c.422A>G	ENSP00000361187.3:p.Lys141Arg
ENST00000412971.5:c.37-124A>G	ENSP00000410263.1:n.37-124A>G
ENST00000435155.1:c.413A>G	ENSP00000403655.1:p.Lys138Arg
ENST00000448481.5:c.413A>G	ENSP00000409718.1:p.Lys138Arg
ENST00000450313.5:c.464A>G	ENSP00000408176.1:p.Lys155Arg
ENST00000456914.6:c.380A>G	ENSP00000407590.2:p.Lys127Arg
ENST00000461495.5:c.*119A>G	ENSP00000437166.1:n.*119A>G
ENST00000462387.5:n.702A>G
ENST00000467940.5:c.*303A>G	ENSP00000436478.1:n.*303A>G
ENST00000470256.5:c.308-124A>G	ENSP00000434985.1:n.308-124A>G
ENST00000475516.5:c.*193A>G	ENSP00000433843.1:n.*193A>G
ENST00000476789.5:n.737A>G
ENST00000478796.5:n.367A>G
ENST00000479746.6:n.580A>G
ENST00000481139.5:n.770A>G
ENST00000481571.5:c.*193A>G	ENSP00000436597.1:n.*193A>G
ENST00000483642.5:n.812A>G
ENST00000485484.5:n.681A>G
ENST00000488731.6:c.116-124A>G	ENSP00000432330.1:n.116-124A>G
ENST00000492494.5:n.694A>G
ENST00000525160.5:c.*31A>G	ENSP00000431568.1:n.*31A>G
ENST00000528013.6:c.422A>G	ENSP00000433130.2:p.Lys141Arg
ENST00000529984.5:c.116-124A>G	ENSP00000437093.1:n.116-124A>G
ENST00000531105.5:c.115+1433A>G	ENSP00000431292.1:n.115+1433A>G
ENST00000533178.5:c.122-271A>G	ENSP00000436430.1:n.122-271A>G
NM_001048171.1:c.422A>G	NP_001041636.1:p.Lys141Arg
NM_001048172.1:c.383A>G	NP_001041637.1:p.Lys128Arg
NM_001048173.1:c.380A>G	NP_001041638.1:p.Lys127Arg
NM_001048174.1:c.380A>G	NP_001041639.1:p.Lys127Arg
NM_001128425.1:c.464A>G , LRG_220t1:c.464A>G	NP_001121897.1:p.Lys155Arg
NM_001293190.1:c.425A>G	NP_001280119.1:p.Lys142Arg
NM_001293191.1:c.413A>G	NP_001280120.1:p.Lys138Arg
NM_001293192.1:c.104A>G	NP_001280121.1:p.Lys35Arg
NM_001293195.1:c.380A>G	NP_001280124.1:p.Lys127Arg
NM_001293196.1:c.104A>G	NP_001280125.1:p.Lys35Arg
NM_012222.2:c.455A>G	NP_036354.1:p.Lys152Arg
XM_011541497.1:c.440A>G	XP_011539799.1:p.Lys147Arg
XM_011541498.1:c.422A>G	XP_011539800.1:p.Lys141Arg
XM_011541499.1:c.422A>G	XP_011539801.1:p.Lys141Arg
XM_011541500.1:c.422A>G	XP_011539802.1:p.Lys141Arg
XM_011541501.1:c.422A>G	XP_011539803.1:p.Lys141Arg
XM_011541502.1:c.422A>G	XP_011539804.1:p.Lys141Arg
XM_011541503.1:c.463-124A>G	XP_011539805.1:n.463-124A>G
XM_011541504.1:c.413A>G	XP_011539806.1:p.Lys138Arg
XM_011541505.1:c.43-124A>G	XP_011539807.1:n.43-124A>G
XM_011541506.1:c.43-124A>G	XP_011539808.1:n.43-124A>G
XM_011541507.1:c.34-124A>G	XP_011539809.1:n.34-124A>G
XM_011541508.1:c.8A>G	XP_011539810.1:p.Lys3Arg
XR_946658.1:n.511A>G
NM_001350650.1:c.35A>G	NP_001337579.1:p.Lys12Arg
NM_001350651.1:c.35A>G	NP_001337580.1:p.Lys12Arg
NR_146882.1:n.638A>G
NR_146883.1:n.452A>G
XM_011541497.3:c.440A>G	XP_011539799.1:p.Lys147Arg
XM_011541500.3:c.422A>G	XP_011539802.1:p.Lys141Arg
XM_011541501.2:c.422A>G	XP_011539803.1:p.Lys141Arg
XM_011541502.2:c.422A>G	XP_011539804.1:p.Lys141Arg
XM_011541503.2:c.463-124A>G	XP_011539805.1:n.463-124A>G
XM_011541504.2:c.413A>G	XP_011539806.1:p.Lys138Arg
XM_011541505.2:c.43-124A>G	XP_011539807.1:n.43-124A>G
XM_011541506.2:c.43-124A>G	XP_011539808.1:n.43-124A>G
XM_017001331.1:c.422A>G	XP_016856820.1:p.Lys141Arg
XM_017001332.1:c.422A>G	XP_016856821.1:p.Lys141Arg
XM_017001333.1:c.422A>G	XP_016856822.1:p.Lys141Arg
XM_017001334.1:c.383A>G	XP_016856823.1:p.Lys128Arg
XM_017001335.1:c.104A>G	XP_016856824.1:p.Lys35Arg
XM_017001336.1:c.35A>G	XP_016856825.1:p.Lys12Arg
XM_017001337.1:c.35A>G	XP_016856826.1:p.Lys12Arg
XM_024447244.1:c.35A>G	XP_024303012.1:p.Lys12Arg
XM_024447245.1:c.35A>G	XP_024303013.1:p.Lys12Arg
XM_024447248.1:c.34-124A>G	XP_024303016.1:n.34-124A>G
XM_024447249.1:c.-137A>G	XP_024303017.1:n.-137A>G
XM_024447250.1:c.-137A>G	XP_024303018.1:n.-137A>G
XM_024447251.1:c.-220A>G	XP_024303019.1:n.-220A>G
XR_001737190.1:n.425A>G
XR_001737192.1:n.278-124A>G
XR_002956643.1:n.458-124A>G
XR_002956644.1:n.869A>G
XR_946658.2:n.525A>G
NM_001048171.2:c.380A>G	NP_001041636.2:p.Lys127Arg
NM_001128425.2:c.464A>G MANE Plus Clinical	NP_001121897.1:p.Lys155Arg
NM_001048172.2:c.383A>G	NP_001041637.1:p.Lys128Arg
NM_001048173.2:c.380A>G	NP_001041638.1:p.Lys127Arg
NM_001048174.2:c.380A>G MANE Select	NP_001041639.1:p.Lys127Arg
NM_001293190.2:c.425A>G	NP_001280119.1:p.Lys142Arg
NM_001293191.2:c.413A>G	NP_001280120.1:p.Lys138Arg
NM_001293192.2:c.104A>G	NP_001280121.1:p.Lys35Arg
NM_001293195.2:c.380A>G	NP_001280124.1:p.Lys127Arg
NM_001293196.2:c.104A>G	NP_001280125.1:p.Lys35Arg
NM_001350650.2:c.35A>G	NP_001337579.1:p.Lys12Arg
NM_001350651.2:c.35A>G	NP_001337580.1:p.Lys12Arg
NM_012222.3:c.455A>G	NP_036354.1:p.Lys152Arg
NR_146882.2:n.608A>G
NR_146883.2:n.457A>G