Canonical Allele Identifier: CA011771

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 41759
• ClinVar RCV Id: RCV001353745
• dbSNP Id: rs79777494
• ExAC: 1:45800167 G / A
• gnomAD v2: 1-45800167-G-A
• gnomAD v3: 1-45334495-G-A
• gnomAD v4: 1-45334495-G-A
• MyVariant Identifiers: chr1:g.45800167G>A (hg19) ; chr1:g.45334495G>A (hg38)
• PubMed: PMID:11295288 ; PMID:16929514 ; PMID:17252231 ; PMID:18422726 ; PMID:18811933 ; PMID:22641385 ; PMID:22703879 ; PMID:24728327 ; PMID:25820570 ; PMID:25980754 ; PMID:26332594 ; PMID:26684191 ; PMID:27443514

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45334495G>A , CM000663.2:g.45334495G>A	GRCh38
NC_000001.10:g.45800167G>A , CM000663.1:g.45800167G>A	GRCh37
NC_000001.9:g.45572754G>A	NCBI36
NG_008189.1:g.10976C>T , LRG_220:g.10976C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.37-1661C>T	ENSP00000410263.2:n.37-1661C>T
ENST00000435155.2:c.11C>T	ENSP00000403655.2:p.Pro4Leu
ENST00000467459.6:c.11C>T	ENSP00000435889.2:p.Pro4Leu
ENST00000483127.2:c.29C>T	ENSP00000436469.2:p.Pro10Leu
ENST00000485271.6:c.11C>T	ENSP00000431264.2:p.Pro4Leu
ENST00000529892.6:c.53C>T	ENSP00000432528.2:p.Pro18Leu
ENST00000533178.6:c.11C>T	ENSP00000436430.2:p.Pro4Leu
ENST00000672314.2:c.11C>T	ENSP00000500828.2:p.Pro4Leu
ENST00000674679.2:c.11C>T	ENSP00000501623.2:p.Pro4Leu
ENST00000710952.2:c.53C>T MANE Plus Clinical	ENSP00000518552.2:p.Pro18Leu
ENST00000672818.3:c.53C>T	ENSP00000500891.1:p.Pro18Leu
ENST00000450313.6:c.53C>T	ENSP00000408176.2:p.Pro18Leu
ENST00000456914.7:c.11C>T MANE Select	ENSP00000407590.2:p.Pro4Leu
ENST00000461495.6:c.53C>T	ENSP00000437166.1:p.Pro18Leu
ENST00000671856.1:n.31C>T
ENST00000671898.1:c.557C>T	ENSP00000499896.1:p.Pro186Leu
ENST00000672011.1:c.53C>T	ENSP00000500418.1:p.Pro18Leu
ENST00000672314.1:c.11C>T	ENSP00000500828.1:p.Pro4Leu
ENST00000672593.1:c.11C>T	ENSP00000500455.1:p.Pro4Leu
ENST00000672764.1:c.11C>T	ENSP00000500886.1:p.Pro4Leu
ENST00000672818.2:c.53C>T	ENSP00000500891.1:p.Pro18Leu
ENST00000673134.1:c.11C>T	ENSP00000500526.1:p.Pro4Leu
ENST00000354383.10:c.11C>T	ENSP00000346354.6:p.Pro4Leu
ENST00000355498.6:c.11C>T	ENSP00000347685.2:p.Pro4Leu
ENST00000372098.7:c.53C>T	ENSP00000361170.3:p.Pro18Leu
ENST00000372104.5:c.11C>T	ENSP00000361176.1:p.Pro4Leu
ENST00000372110.7:c.53C>T	ENSP00000361182.3:p.Pro18Leu
ENST00000372115.7:c.53C>T	ENSP00000361187.3:p.Pro18Leu
ENST00000412971.5:c.37-1661C>T	ENSP00000410263.1:n.37-1661C>T
ENST00000435155.1:c.11C>T	ENSP00000403655.1:p.Pro4Leu
ENST00000448481.5:c.11C>T	ENSP00000409718.1:p.Pro4Leu
ENST00000450313.5:c.53C>T	ENSP00000408176.1:p.Pro18Leu
ENST00000456914.6:c.11C>T	ENSP00000407590.2:p.Pro4Leu
ENST00000461495.5:c.53C>T	ENSP00000437166.1:p.Pro18Leu
ENST00000462387.5:n.231C>T
ENST00000467940.5:c.69C>T	ENSP00000436478.1:p.Ala23=
ENST00000470256.5:c.11C>T	ENSP00000434985.1:p.Pro4Leu
ENST00000474703.1:n.133C>T
ENST00000475516.5:c.11C>T	ENSP00000433843.1:p.Pro4Leu
ENST00000476789.5:n.231C>T
ENST00000479746.6:n.74C>T
ENST00000481139.5:n.214C>T
ENST00000481571.5:c.53C>T	ENSP00000436597.1:p.Pro18Leu
ENST00000483127.1:c.29C>T	ENSP00000436469.1:p.Pro10Leu
ENST00000483642.5:n.192C>T
ENST00000485484.5:n.61C>T
ENST00000488731.6:c.11C>T	ENSP00000432330.1:p.Pro4Leu
ENST00000492494.5:n.74C>T
ENST00000525160.5:c.53C>T	ENSP00000431568.1:p.Pro18Leu
ENST00000528013.6:c.11C>T	ENSP00000433130.2:p.Pro4Leu
ENST00000529984.5:c.11C>T	ENSP00000437093.1:p.Pro4Leu
ENST00000531105.5:c.11C>T	ENSP00000431292.1:p.Pro4Leu
ENST00000533178.5:c.17C>T	ENSP00000436430.1:p.Pro6Leu
ENST00000534453.1:n.277C>T
NM_001048171.1:c.53C>T	NP_001041636.1:p.Pro18Leu
NM_001048172.1:c.11C>T	NP_001041637.1:p.Pro4Leu
NM_001048173.1:c.11C>T	NP_001041638.1:p.Pro4Leu
NM_001048174.1:c.11C>T	NP_001041639.1:p.Pro4Leu
NM_001128425.1:c.53C>T , LRG_220t1:c.53C>T	NP_001121897.1:p.Pro18Leu
NM_001293190.1:c.53C>T	NP_001280119.1:p.Pro18Leu
NM_001293191.1:c.11C>T	NP_001280120.1:p.Pro4Leu
NM_001293192.1:c.-202C>T	NP_001280121.1:n.-202C>T
NM_001293195.1:c.11C>T	NP_001280124.1:p.Pro4Leu
NM_001293196.1:c.-202C>T	NP_001280125.1:n.-202C>T
NM_012222.2:c.53C>T	NP_036354.1:p.Pro18Leu
XM_011541497.1:c.29C>T	XP_011539799.1:p.Pro10Leu
XM_011541498.1:c.11C>T	XP_011539800.1:p.Pro4Leu
XM_011541499.1:c.11C>T	XP_011539801.1:p.Pro4Leu
XM_011541500.1:c.11C>T	XP_011539802.1:p.Pro4Leu
XM_011541501.1:c.11C>T	XP_011539803.1:p.Pro4Leu
XM_011541502.1:c.11C>T	XP_011539804.1:p.Pro4Leu
XM_011541503.1:c.53C>T	XP_011539805.1:p.Pro18Leu
XM_011541504.1:c.11C>T	XP_011539806.1:p.Pro4Leu
XM_011541505.1:c.-63C>T	XP_011539807.1:n.-63C>T
XM_011541506.1:c.-63C>T	XP_011539808.1:n.-63C>T
XR_946658.1:n.100C>T
NM_001350650.1:c.-261C>T	NP_001337579.1:n.-261C>T
NM_001350651.1:c.-197C>T	NP_001337580.1:n.-197C>T
NR_146882.1:n.269C>T
NR_146883.1:n.157C>T
XM_011541497.3:c.29C>T	XP_011539799.1:p.Pro10Leu
XM_011541500.3:c.11C>T	XP_011539802.1:p.Pro4Leu
XM_011541501.2:c.11C>T	XP_011539803.1:p.Pro4Leu
XM_011541502.2:c.11C>T	XP_011539804.1:p.Pro4Leu
XM_011541503.2:c.53C>T	XP_011539805.1:p.Pro18Leu
XM_011541504.2:c.11C>T	XP_011539806.1:p.Pro4Leu
XM_011541505.2:c.-63C>T	XP_011539807.1:n.-63C>T
XM_011541506.2:c.-63C>T	XP_011539808.1:n.-63C>T
XM_017001331.1:c.11C>T	XP_016856820.1:p.Pro4Leu
XM_017001332.1:c.11C>T	XP_016856821.1:p.Pro4Leu
XM_017001333.1:c.11C>T	XP_016856822.1:p.Pro4Leu
XM_017001334.1:c.11C>T	XP_016856823.1:p.Pro4Leu
XM_017001335.1:c.-202C>T	XP_016856824.1:n.-202C>T
XM_017001336.1:c.-294C>T	XP_016856825.1:n.-294C>T
XM_017001337.1:c.-294C>T	XP_016856826.1:n.-294C>T
XM_024447244.1:c.-303C>T	XP_024303012.1:n.-303C>T
XM_024447245.1:c.-264C>T	XP_024303013.1:n.-264C>T
XM_024447248.1:c.-261C>T	XP_024303016.1:n.-261C>T
XM_024447249.1:c.-757C>T	XP_024303017.1:n.-757C>T
XM_024447250.1:c.-760C>T	XP_024303018.1:n.-760C>T
XM_024447251.1:c.-451C>T	XP_024303019.1:n.-451C>T
XR_001737190.1:n.120C>T
XR_001737192.1:n.48C>T
XR_002956643.1:n.228C>T
XR_002956644.1:n.246C>T
XR_946658.2:n.114C>T
NM_001048171.2:c.11C>T	NP_001041636.2:p.Pro4Leu
NM_001128425.2:c.53C>T MANE Plus Clinical	NP_001121897.1:p.Pro18Leu
NM_001048172.2:c.11C>T	NP_001041637.1:p.Pro4Leu
NM_001048173.2:c.11C>T	NP_001041638.1:p.Pro4Leu
NM_001048174.2:c.11C>T MANE Select	NP_001041639.1:p.Pro4Leu
NM_001293190.2:c.53C>T	NP_001280119.1:p.Pro18Leu
NM_001293191.2:c.11C>T	NP_001280120.1:p.Pro4Leu
NM_001293192.2:c.-202C>T	NP_001280121.1:n.-202C>T
NM_001293195.2:c.11C>T	NP_001280124.1:p.Pro4Leu
NM_001293196.2:c.-202C>T	NP_001280125.1:n.-202C>T
NM_001350650.2:c.-261C>T	NP_001337579.1:n.-261C>T
NM_001350651.2:c.-197C>T	NP_001337580.1:n.-197C>T
NM_012222.3:c.53C>T	NP_036354.1:p.Pro18Leu
NR_146882.2:n.239C>T
NR_146883.2:n.162C>T