Canonical Allele Identifier: CA1001247151

Gene: MUTYH

Linked Data

• dbSNP Id: rs1646180458
• gnomAD v3: 1-45338033-A-AAGTG
• gnomAD v4: 1-45338033-A-AAGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45338038_45338041dup , CM000663.2:g.45338038_45338041dup	GRCh38
NC_000001.10:g.45803710_45803713dup , CM000663.1:g.45803710_45803713dup	GRCh37
NC_000001.9:g.45576297_45576300dup	NCBI36
NG_008189.1:g.7434_7437dup , LRG_220:g.7434_7437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.36+2182_36+2185dup	ENSP00000410263.2:n.36+2182_36+2185dup
ENST00000435155.2:c.-7+1939_-7+1942dup	ENSP00000403655.2:n.-7+1939_-7+1942dup
ENST00000467459.6:c.-7+1862_-7+1865dup	ENSP00000435889.2:n.-7+1862_-7+1865dup
ENST00000483127.2:c.12+149_12+152dup	ENSP00000436469.2:n.12+149_12+152dup
ENST00000485271.6:c.-7+1939_-7+1942dup	ENSP00000431264.2:n.-7+1939_-7+1942dup
ENST00000529892.6:c.36+2182_36+2185dup	ENSP00000432528.2:n.36+2182_36+2185dup
ENST00000710952.2:c.36+2182_36+2185dup MANE Plus Clinical	ENSP00000518552.2:n.36+2182_36+2185dup
ENST00000672818.3:c.36+2182_36+2185dup	ENSP00000500891.1:n.36+2182_36+2185dup
ENST00000450313.6:c.36+2182_36+2185dup	ENSP00000408176.2:n.36+2182_36+2185dup
ENST00000456914.7:c.-7+1862_-7+1865dup MANE Select	ENSP00000407590.2:n.-7+1862_-7+1865dup
ENST00000461495.6:c.36+2182_36+2185dup	ENSP00000437166.1:n.36+2182_36+2185dup
ENST00000671856.1:n.14+2182_14+2185dup
ENST00000671898.1:c.541-3526_541-3523dup	ENSP00000499896.1:n.541-3526_541-3523dup
ENST00000672011.1:c.36+2182_36+2185dup	ENSP00000500418.1:n.36+2182_36+2185dup
ENST00000672593.1:c.-7+470_-7+473dup	ENSP00000500455.1:n.-7+470_-7+473dup
ENST00000672764.1:c.-7+1939_-7+1942dup	ENSP00000500886.1:n.-7+1939_-7+1942dup
ENST00000672818.2:c.36+2182_36+2185dup	ENSP00000500891.1:n.36+2182_36+2185dup
ENST00000673134.1:c.-7+1939_-7+1942dup	ENSP00000500526.1:n.-7+1939_-7+1942dup
ENST00000354383.10:c.-7+1939_-7+1942dup	ENSP00000346354.6:n.-7+1939_-7+1942dup
ENST00000355498.6:c.-7+1939_-7+1942dup	ENSP00000347685.2:n.-7+1939_-7+1942dup
ENST00000372098.7:c.36+2182_36+2185dup	ENSP00000361170.3:n.36+2182_36+2185dup
ENST00000372104.5:c.-7+470_-7+473dup	ENSP00000361176.1:n.-7+470_-7+473dup
ENST00000372110.7:c.36+2182_36+2185dup	ENSP00000361182.3:n.36+2182_36+2185dup
ENST00000372115.7:c.36+2182_36+2185dup	ENSP00000361187.3:n.36+2182_36+2185dup
ENST00000412971.5:c.36+2182_36+2185dup	ENSP00000410263.1:n.36+2182_36+2185dup
ENST00000435155.1:c.-7+1939_-7+1942dup	ENSP00000403655.1:n.-7+1939_-7+1942dup
ENST00000448481.5:c.-7+1862_-7+1865dup	ENSP00000409718.1:n.-7+1862_-7+1865dup
ENST00000450313.5:c.36+2182_36+2185dup	ENSP00000408176.1:n.36+2182_36+2185dup
ENST00000456914.6:c.-7+1862_-7+1865dup	ENSP00000407590.2:n.-7+1862_-7+1865dup
ENST00000461495.5:c.36+2182_36+2185dup	ENSP00000437166.1:n.36+2182_36+2185dup
ENST00000462387.5:n.214+2182_214+2185dup
ENST00000467940.5:c.52+2166_52+2169dup	ENSP00000436478.1:n.52+2166_52+2169dup
ENST00000470256.5:c.-7+1939_-7+1942dup	ENSP00000434985.1:n.-7+1939_-7+1942dup
ENST00000474703.1:n.116+1939_116+1942dup
ENST00000475516.5:c.-7+1939_-7+1942dup	ENSP00000433843.1:n.-7+1939_-7+1942dup
ENST00000476789.5:n.214+2182_214+2185dup
ENST00000479746.6:n.57+1862_57+1865dup
ENST00000481139.5:n.197+2182_197+2185dup
ENST00000481571.5:c.36+2182_36+2185dup	ENSP00000436597.1:n.36+2182_36+2185dup
ENST00000483127.1:c.12+149_12+152dup	ENSP00000436469.1:n.12+149_12+152dup
ENST00000483642.5:n.175+2186_175+2189dup
ENST00000485484.5:n.44+1862_44+1865dup
ENST00000488731.6:c.-7+1939_-7+1942dup	ENSP00000432330.1:n.-7+1939_-7+1942dup
ENST00000492494.5:n.57+1862_57+1865dup
ENST00000525160.5:c.36+2182_36+2185dup	ENSP00000431568.1:n.36+2182_36+2185dup
ENST00000528013.6:c.-7+1862_-7+1865dup	ENSP00000433130.2:n.-7+1862_-7+1865dup
ENST00000529984.5:c.-7+2182_-7+2185dup	ENSP00000437093.1:n.-7+2182_-7+2185dup
ENST00000531105.5:c.-7+1939_-7+1942dup	ENSP00000431292.1:n.-7+1939_-7+1942dup
ENST00000534453.1:n.260+1939_260+1942dup
NM_001048171.1:c.36+2182_36+2185dup	NP_001041636.1:n.36+2182_36+2185dup
NM_001048172.1:c.-7+1939_-7+1942dup	NP_001041637.1:n.-7+1939_-7+1942dup
NM_001048173.1:c.-7+1939_-7+1942dup	NP_001041638.1:n.-7+1939_-7+1942dup
NM_001048174.1:c.-7+1862_-7+1865dup	NP_001041639.1:n.-7+1862_-7+1865dup
NM_001128425.1:c.36+2182_36+2185dup , LRG_220t1:c.36+2182_36+2185dup	NP_001121897.1:n.36+2182_36+2185dup
NM_001293190.1:c.36+2182_36+2185dup	NP_001280119.1:n.36+2182_36+2185dup
NM_001293191.1:c.-7+1862_-7+1865dup	NP_001280120.1:n.-7+1862_-7+1865dup
NM_001293192.1:c.-219+2182_-219+2185dup	NP_001280121.1:n.-219+2182_-219+2185dup
NM_001293195.1:c.-7+470_-7+473dup	NP_001280124.1:n.-7+470_-7+473dup
NM_001293196.1:c.-219+1939_-219+1942dup	NP_001280125.1:n.-219+1939_-219+1942dup
NM_012222.2:c.36+2182_36+2185dup	NP_036354.1:n.36+2182_36+2185dup
XM_011541497.1:c.12+149_12+152dup	XP_011539799.1:n.12+149_12+152dup
XM_011541498.1:c.-7+1939_-7+1942dup	XP_011539800.1:n.-7+1939_-7+1942dup
XM_011541499.1:c.-7+1862_-7+1865dup	XP_011539801.1:n.-7+1862_-7+1865dup
XM_011541500.1:c.-7+470_-7+473dup	XP_011539802.1:n.-7+470_-7+473dup
XM_011541501.1:c.-7+470_-7+473dup	XP_011539803.1:n.-7+470_-7+473dup
XM_011541502.1:c.-7+1625_-7+1628dup	XP_011539804.1:n.-7+1625_-7+1628dup
XM_011541503.1:c.36+2182_36+2185dup	XP_011539805.1:n.36+2182_36+2185dup
XM_011541504.1:c.-7+1939_-7+1942dup	XP_011539806.1:n.-7+1939_-7+1942dup
XM_011541505.1:c.-80+2182_-80+2185dup	XP_011539807.1:n.-80+2182_-80+2185dup
XM_011541506.1:c.-80+1939_-80+1942dup	XP_011539808.1:n.-80+1939_-80+1942dup
XR_946658.1:n.83+2182_83+2185dup
NM_001350650.1:c.-278+2182_-278+2185dup	NP_001337579.1:n.-278+2182_-278+2185dup
NM_001350651.1:c.-214+2182_-214+2185dup	NP_001337580.1:n.-214+2182_-214+2185dup
NR_146882.1:n.252+2182_252+2185dup
NR_146883.1:n.140+1939_140+1942dup
XM_011541497.3:c.12+149_12+152dup	XP_011539799.1:n.12+149_12+152dup
XM_011541500.3:c.-7+470_-7+473dup	XP_011539802.1:n.-7+470_-7+473dup
XM_011541501.2:c.-7+470_-7+473dup	XP_011539803.1:n.-7+470_-7+473dup
XM_011541502.2:c.-7+1625_-7+1628dup	XP_011539804.1:n.-7+1625_-7+1628dup
XM_011541503.2:c.36+2182_36+2185dup	XP_011539805.1:n.36+2182_36+2185dup
XM_011541504.2:c.-7+1939_-7+1942dup	XP_011539806.1:n.-7+1939_-7+1942dup
XM_011541505.2:c.-80+2182_-80+2185dup	XP_011539807.1:n.-80+2182_-80+2185dup
XM_011541506.2:c.-80+1939_-80+1942dup	XP_011539808.1:n.-80+1939_-80+1942dup
XM_017001331.1:c.-7+2166_-7+2169dup	XP_016856820.1:n.-7+2166_-7+2169dup
XM_017001332.1:c.-7+2186_-7+2189dup	XP_016856821.1:n.-7+2186_-7+2189dup
XM_017001334.1:c.-7+1862_-7+1865dup	XP_016856823.1:n.-7+1862_-7+1865dup
XM_017001335.1:c.-219+2166_-219+2169dup	XP_016856824.1:n.-219+2166_-219+2169dup
XM_017001336.1:c.-311+2182_-311+2185dup	XP_016856825.1:n.-311+2182_-311+2185dup
XM_017001337.1:c.-311+1939_-311+1942dup	XP_016856826.1:n.-311+1939_-311+1942dup
XM_024447244.1:c.-320+2182_-320+2185dup	XP_024303012.1:n.-320+2182_-320+2185dup
XM_024447245.1:c.-281+1939_-281+1942dup	XP_024303013.1:n.-281+1939_-281+1942dup
XM_024447248.1:c.-278+2182_-278+2185dup	XP_024303016.1:n.-278+2182_-278+2185dup
XM_024447249.1:c.-774+2186_-774+2189dup	XP_024303017.1:n.-774+2186_-774+2189dup
XM_024447250.1:c.-777+2166_-777+2169dup	XP_024303018.1:n.-777+2166_-777+2169dup
XM_024447251.1:c.-468+1939_-468+1942dup	XP_024303019.1:n.-468+1939_-468+1942dup
XR_001737190.1:n.103+2182_103+2185dup
XR_001737192.1:n.31+1939_31+1942dup
XR_002956643.1:n.211+2182_211+2185dup
XR_002956644.1:n.229+2182_229+2185dup
XR_946658.2:n.97+2182_97+2185dup
NM_001048171.2:c.-7+2182_-7+2185dup	NP_001041636.2:n.-7+2182_-7+2185dup
NM_001128425.2:c.36+2182_36+2185dup MANE Plus Clinical	NP_001121897.1:n.36+2182_36+2185dup
NM_001048172.2:c.-7+1939_-7+1942dup	NP_001041637.1:n.-7+1939_-7+1942dup
NM_001048173.2:c.-7+1939_-7+1942dup	NP_001041638.1:n.-7+1939_-7+1942dup
NM_001048174.2:c.-7+1862_-7+1865dup MANE Select	NP_001041639.1:n.-7+1862_-7+1865dup
NM_001293190.2:c.36+2182_36+2185dup	NP_001280119.1:n.36+2182_36+2185dup
NM_001293191.2:c.-7+1862_-7+1865dup	NP_001280120.1:n.-7+1862_-7+1865dup
NM_001293192.2:c.-219+2182_-219+2185dup	NP_001280121.1:n.-219+2182_-219+2185dup
NM_001293195.2:c.-7+470_-7+473dup	NP_001280124.1:n.-7+470_-7+473dup
NM_001293196.2:c.-219+1939_-219+1942dup	NP_001280125.1:n.-219+1939_-219+1942dup
NM_001350650.2:c.-278+2182_-278+2185dup	NP_001337579.1:n.-278+2182_-278+2185dup
NM_001350651.2:c.-214+2182_-214+2185dup	NP_001337580.1:n.-214+2182_-214+2185dup
NM_012222.3:c.36+2182_36+2185dup	NP_036354.1:n.36+2182_36+2185dup
NR_146882.2:n.222+2182_222+2185dup
NR_146883.2:n.145+1939_145+1942dup