Canonical Allele Identifier: CA417880044
Gene: MUTYH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.45798605G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332933G>C , CM000663.2:g.45332933G>C GRCh38
NC_000001.10:g.45798605G>C , CM000663.1:g.45798605G>C GRCh37
NC_000001.9:g.45571192G>C NCBI36
NG_008189.1:g.12538C>G , LRG_220:g.12538C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.37-99C>G ENSP00000410263.2:n.37-99C>G
ENST00000435155.2:c.438C>G ENSP00000403655.2:p.Ala146=
ENST00000467459.6:c.405C>G ENSP00000435889.2:p.Ala135=
ENST00000483127.2:c.423C>G ENSP00000436469.2:p.Ala141=
ENST00000485271.6:c.405C>G ENSP00000431264.2:p.Ala135=
ENST00000529892.6:c.447C>G ENSP00000432528.2:p.Ala149=
ENST00000533178.6:c.116-246C>G ENSP00000436430.2:n.116-246C>G
ENST00000672314.2:c.405C>G ENSP00000500828.2:p.Ala135=
ENST00000674679.2:c.*317C>G ENSP00000501623.2:n.*317C>G
ENST00000710952.2:c.489C>G MANE Plus Clinical ENSP00000518552.2:p.Ala163=
ENST00000672818.3:c.480C>G ENSP00000500891.1:p.Ala160=
ENST00000450313.6:c.415C>G ENSP00000408176.2:p.Gln139Glu
ENST00000456914.7:c.405C>G MANE Select ENSP00000407590.2:p.Ala135=
ENST00000461495.6:c.*144C>G ENSP00000437166.1:n.*144C>G
ENST00000671856.1:n.351C>G
ENST00000671898.1:c.993C>G ENSP00000499896.1:p.Ala331=
ENST00000672011.1:c.373C>G ENSP00000500418.1:p.Gln125Glu
ENST00000672314.1:c.405C>G ENSP00000500828.1:p.Ala135=
ENST00000672593.1:c.*218C>G ENSP00000500455.1:n.*218C>G
ENST00000672764.1:c.364C>G ENSP00000500886.1:p.Gln122Glu
ENST00000672818.2:c.480C>G ENSP00000500891.1:p.Ala160=
ENST00000673134.1:c.*118-99C>G ENSP00000500526.1:n.*118-99C>G
ENST00000674679.1:c.433C>G ENSP00000501623.1:n.433C>G
ENST00000354383.10:c.408C>G ENSP00000346354.6:p.Ala136=
ENST00000355498.6:c.405C>G ENSP00000347685.2:p.Ala135=
ENST00000372098.7:c.480C>G ENSP00000361170.3:p.Ala160=
ENST00000372104.5:c.405C>G ENSP00000361176.1:p.Ala135=
ENST00000372110.7:c.450C>G ENSP00000361182.3:p.Ala150=
ENST00000372115.7:c.447C>G ENSP00000361187.3:p.Ala149=
ENST00000412971.5:c.37-99C>G ENSP00000410263.1:n.37-99C>G
ENST00000435155.1:c.438C>G ENSP00000403655.1:p.Ala146=
ENST00000448481.5:c.438C>G ENSP00000409718.1:p.Ala146=
ENST00000450313.5:c.489C>G ENSP00000408176.1:p.Ala163=
ENST00000456914.6:c.405C>G ENSP00000407590.2:p.Ala135=
ENST00000461495.5:c.*144C>G ENSP00000437166.1:n.*144C>G
ENST00000462387.5:n.727C>G
ENST00000462388.5:n.13C>G
ENST00000467940.5:c.*328C>G ENSP00000436478.1:n.*328C>G
ENST00000470256.5:c.308-99C>G ENSP00000434985.1:n.308-99C>G
ENST00000475516.5:c.*218C>G ENSP00000433843.1:n.*218C>G
ENST00000476789.5:n.762C>G
ENST00000478796.5:n.392C>G
ENST00000479746.6:n.605C>G
ENST00000481139.5:n.795C>G
ENST00000481571.5:c.*218C>G ENSP00000436597.1:n.*218C>G
ENST00000483642.5:n.837C>G
ENST00000485484.5:n.706C>G
ENST00000488731.6:c.116-99C>G ENSP00000432330.1:n.116-99C>G
ENST00000492494.5:n.719C>G
ENST00000525160.5:c.*56C>G ENSP00000431568.1:n.*56C>G
ENST00000528013.6:c.447C>G ENSP00000433130.2:p.Ala149=
ENST00000529984.5:c.116-99C>G ENSP00000437093.1:n.116-99C>G
ENST00000531105.5:c.115+1458C>G ENSP00000431292.1:n.115+1458C>G
ENST00000533178.5:c.122-246C>G ENSP00000436430.1:n.122-246C>G
NM_001048171.1:c.447C>G NP_001041636.1:p.Ala149=
NM_001048172.1:c.408C>G NP_001041637.1:p.Ala136=
NM_001048173.1:c.405C>G NP_001041638.1:p.Ala135=
NM_001048174.1:c.405C>G NP_001041639.1:p.Ala135=
NM_001128425.1:c.489C>G , LRG_220t1:c.489C>G NP_001121897.1:p.Ala163=
NM_001293190.1:c.450C>G NP_001280119.1:p.Ala150=
NM_001293191.1:c.438C>G NP_001280120.1:p.Ala146=
NM_001293192.1:c.129C>G NP_001280121.1:p.Ala43=
NM_001293195.1:c.405C>G NP_001280124.1:p.Ala135=
NM_001293196.1:c.129C>G NP_001280125.1:p.Ala43=
NM_012222.2:c.480C>G NP_036354.1:p.Ala160=
XM_011541497.1:c.465C>G XP_011539799.1:p.Ala155=
XM_011541498.1:c.447C>G XP_011539800.1:p.Ala149=
XM_011541499.1:c.447C>G XP_011539801.1:p.Ala149=
XM_011541500.1:c.447C>G XP_011539802.1:p.Ala149=
XM_011541501.1:c.447C>G XP_011539803.1:p.Ala149=
XM_011541502.1:c.447C>G XP_011539804.1:p.Ala149=
XM_011541503.1:c.463-99C>G XP_011539805.1:n.463-99C>G
XM_011541504.1:c.438C>G XP_011539806.1:p.Ala146=
XM_011541505.1:c.43-99C>G XP_011539807.1:n.43-99C>G
XM_011541506.1:c.43-99C>G XP_011539808.1:n.43-99C>G
XM_011541507.1:c.34-99C>G XP_011539809.1:n.34-99C>G
XM_011541508.1:c.33C>G XP_011539810.1:p.Ala11=
XR_946658.1:n.536C>G
NM_001350650.1:c.60C>G NP_001337579.1:p.Ala20=
NM_001350651.1:c.60C>G NP_001337580.1:p.Ala20=
NR_146882.1:n.663C>G
NR_146883.1:n.477C>G
XM_011541497.3:c.465C>G XP_011539799.1:p.Ala155=
XM_011541500.3:c.447C>G XP_011539802.1:p.Ala149=
XM_011541501.2:c.447C>G XP_011539803.1:p.Ala149=
XM_011541502.2:c.447C>G XP_011539804.1:p.Ala149=
XM_011541503.2:c.463-99C>G XP_011539805.1:n.463-99C>G
XM_011541504.2:c.438C>G XP_011539806.1:p.Ala146=
XM_011541505.2:c.43-99C>G XP_011539807.1:n.43-99C>G
XM_011541506.2:c.43-99C>G XP_011539808.1:n.43-99C>G
XM_017001331.1:c.447C>G XP_016856820.1:p.Ala149=
XM_017001332.1:c.447C>G XP_016856821.1:p.Ala149=
XM_017001333.1:c.447C>G XP_016856822.1:p.Ala149=
XM_017001334.1:c.408C>G XP_016856823.1:p.Ala136=
XM_017001335.1:c.129C>G XP_016856824.1:p.Ala43=
XM_017001336.1:c.60C>G XP_016856825.1:p.Ala20=
XM_017001337.1:c.60C>G XP_016856826.1:p.Ala20=
XM_024447244.1:c.60C>G XP_024303012.1:p.Ala20=
XM_024447245.1:c.60C>G XP_024303013.1:p.Ala20=
XM_024447248.1:c.34-99C>G XP_024303016.1:n.34-99C>G
XM_024447249.1:c.-112C>G XP_024303017.1:n.-112C>G
XM_024447250.1:c.-112C>G XP_024303018.1:n.-112C>G
XM_024447251.1:c.-195C>G XP_024303019.1:n.-195C>G
XR_001737190.1:n.450C>G
XR_001737192.1:n.278-99C>G
XR_002956643.1:n.458-99C>G
XR_002956644.1:n.894C>G
XR_946658.2:n.550C>G
NM_001048171.2:c.405C>G NP_001041636.2:p.Ala135=
NM_001128425.2:c.489C>G MANE Plus Clinical NP_001121897.1:p.Ala163=
NM_001048172.2:c.408C>G NP_001041637.1:p.Ala136=
NM_001048173.2:c.405C>G NP_001041638.1:p.Ala135=
NM_001048174.2:c.405C>G MANE Select NP_001041639.1:p.Ala135=
NM_001293190.2:c.450C>G NP_001280119.1:p.Ala150=
NM_001293191.2:c.438C>G NP_001280120.1:p.Ala146=
NM_001293192.2:c.129C>G NP_001280121.1:p.Ala43=
NM_001293195.2:c.405C>G NP_001280124.1:p.Ala135=
NM_001293196.2:c.129C>G NP_001280125.1:p.Ala43=
NM_001350650.2:c.60C>G NP_001337579.1:p.Ala20=
NM_001350651.2:c.60C>G NP_001337580.1:p.Ala20=
NM_012222.3:c.480C>G NP_036354.1:p.Ala160=
NR_146882.2:n.633C>G
NR_146883.2:n.482C>G