Canonical Allele Identifier: CA417880270
Gene: MUTYH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.45798143A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332471A>G , CM000663.2:g.45332471A>G GRCh38
NC_000001.10:g.45798143A>G , CM000663.1:g.45798143A>G GRCh37
NC_000001.9:g.45570730A>G NCBI36
NG_008189.1:g.13000T>C , LRG_220:g.13000T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.240T>C ENSP00000410263.2:p.Asp80=
ENST00000435155.2:c.657T>C ENSP00000403655.2:p.Asp219=
ENST00000467459.6:c.624T>C ENSP00000435889.2:p.Asp208=
ENST00000483127.2:c.642T>C ENSP00000436469.2:p.Asp214=
ENST00000485271.6:c.624T>C ENSP00000431264.2:p.Asp208=
ENST00000529892.6:c.666T>C ENSP00000432528.2:p.Asp222=
ENST00000533178.6:c.247T>C ENSP00000436430.2:p.Trp83Arg
ENST00000672314.2:c.624T>C ENSP00000500828.2:p.Asp208=
ENST00000674679.2:c.*536T>C ENSP00000501623.2:n.*536T>C
ENST00000710952.2:c.708T>C MANE Plus Clinical ENSP00000518552.2:p.Asp236=
ENST00000672818.3:c.699T>C ENSP00000500891.1:p.Asp233=
ENST00000450313.6:c.634T>C ENSP00000408176.2:p.Trp212Arg
ENST00000456914.7:c.624T>C MANE Select ENSP00000407590.2:p.Asp208=
ENST00000461495.6:c.*363T>C ENSP00000437166.1:n.*363T>C
ENST00000671898.1:c.1212T>C ENSP00000499896.1:p.Asp404=
ENST00000672011.1:c.592T>C ENSP00000500418.1:p.Trp198Arg
ENST00000672314.1:c.624T>C ENSP00000500828.1:p.Asp208=
ENST00000672593.1:c.*597T>C ENSP00000500455.1:n.*597T>C
ENST00000672764.1:c.583T>C ENSP00000500886.1:p.Trp195Arg
ENST00000672818.2:c.699T>C ENSP00000500891.1:p.Asp233=
ENST00000673134.1:c.*321T>C ENSP00000500526.1:n.*321T>C
ENST00000674679.1:c.652T>C ENSP00000501623.1:n.652T>C
ENST00000354383.10:c.627T>C ENSP00000346354.6:p.Asp209=
ENST00000355498.6:c.624T>C ENSP00000347685.2:p.Asp208=
ENST00000372098.7:c.699T>C ENSP00000361170.3:p.Asp233=
ENST00000372104.5:c.624T>C ENSP00000361176.1:p.Asp208=
ENST00000372110.7:c.669T>C ENSP00000361182.3:p.Asp223=
ENST00000372115.7:c.666T>C ENSP00000361187.3:p.Asp222=
ENST00000412971.5:c.240T>C ENSP00000410263.1:p.Asp80=
ENST00000435155.1:c.657T>C ENSP00000403655.1:p.Asp219=
ENST00000448481.5:c.657T>C ENSP00000409718.1:p.Asp219=
ENST00000450313.5:c.708T>C ENSP00000408176.1:p.Asp236=
ENST00000456914.6:c.624T>C ENSP00000407590.2:p.Asp208=
ENST00000461495.5:c.*363T>C ENSP00000437166.1:n.*363T>C
ENST00000462388.5:n.315T>C
ENST00000467459.5:c.18T>C ENSP00000435889.1:p.Asp6=
ENST00000467940.5:c.*547T>C ENSP00000436478.1:n.*547T>C
ENST00000470256.5:c.511T>C ENSP00000434985.1:p.Trp171Arg
ENST00000475516.5:c.*437T>C ENSP00000433843.1:n.*437T>C
ENST00000478796.5:n.611T>C
ENST00000481571.5:c.*437T>C ENSP00000436597.1:n.*437T>C
ENST00000488731.6:c.187+292T>C ENSP00000432330.1:n.187+292T>C
ENST00000525160.5:c.*275T>C ENSP00000431568.1:n.*275T>C
ENST00000528013.6:c.666T>C ENSP00000433130.2:p.Asp222=
ENST00000529984.5:c.187+292T>C ENSP00000437093.1:n.187+292T>C
ENST00000531105.5:c.115+1920T>C ENSP00000431292.1:n.115+1920T>C
ENST00000533178.5:c.253T>C ENSP00000436430.1:p.Trp85Arg
NM_001048171.1:c.666T>C NP_001041636.1:p.Asp222=
NM_001048172.1:c.627T>C NP_001041637.1:p.Asp209=
NM_001048173.1:c.624T>C NP_001041638.1:p.Asp208=
NM_001048174.1:c.624T>C NP_001041639.1:p.Asp208=
NM_001128425.1:c.708T>C , LRG_220t1:c.708T>C NP_001121897.1:p.Asp236=
NM_001293190.1:c.669T>C NP_001280119.1:p.Asp223=
NM_001293191.1:c.657T>C NP_001280120.1:p.Asp219=
NM_001293192.1:c.348T>C NP_001280121.1:p.Asp116=
NM_001293195.1:c.624T>C NP_001280124.1:p.Asp208=
NM_001293196.1:c.348T>C NP_001280125.1:p.Asp116=
NM_012222.2:c.699T>C NP_036354.1:p.Asp233=
XM_011541497.1:c.684T>C XP_011539799.1:p.Asp228=
XM_011541498.1:c.666T>C XP_011539800.1:p.Asp222=
XM_011541499.1:c.666T>C XP_011539801.1:p.Asp222=
XM_011541500.1:c.666T>C XP_011539802.1:p.Asp222=
XM_011541501.1:c.666T>C XP_011539803.1:p.Asp222=
XM_011541502.1:c.666T>C XP_011539804.1:p.Asp222=
XM_011541503.1:c.666T>C XP_011539805.1:p.Asp222=
XM_011541504.1:c.657T>C XP_011539806.1:p.Asp219=
XM_011541505.1:c.246T>C XP_011539807.1:p.Asp82=
XM_011541506.1:c.246T>C XP_011539808.1:p.Asp82=
XM_011541507.1:c.237T>C XP_011539809.1:p.Asp79=
XM_011541508.1:c.252T>C XP_011539810.1:p.Asp84=
XR_946658.1:n.755T>C
NM_001350650.1:c.279T>C NP_001337579.1:p.Asp93=
NM_001350651.1:c.279T>C NP_001337580.1:p.Asp93=
NR_146882.1:n.882T>C
NR_146883.1:n.696T>C
XM_011541497.3:c.684T>C XP_011539799.1:p.Asp228=
XM_011541500.3:c.666T>C XP_011539802.1:p.Asp222=
XM_011541501.2:c.666T>C XP_011539803.1:p.Asp222=
XM_011541502.2:c.666T>C XP_011539804.1:p.Asp222=
XM_011541503.2:c.666T>C XP_011539805.1:p.Asp222=
XM_011541504.2:c.657T>C XP_011539806.1:p.Asp219=
XM_011541505.2:c.246T>C XP_011539807.1:p.Asp82=
XM_011541506.2:c.246T>C XP_011539808.1:p.Asp82=
XM_017001331.1:c.666T>C XP_016856820.1:p.Asp222=
XM_017001332.1:c.666T>C XP_016856821.1:p.Asp222=
XM_017001333.1:c.666T>C XP_016856822.1:p.Asp222=
XM_017001334.1:c.627T>C XP_016856823.1:p.Asp209=
XM_017001335.1:c.348T>C XP_016856824.1:p.Asp116=
XM_017001336.1:c.279T>C XP_016856825.1:p.Asp93=
XM_017001337.1:c.279T>C XP_016856826.1:p.Asp93=
XM_024447244.1:c.279T>C XP_024303012.1:p.Asp93=
XM_024447245.1:c.279T>C XP_024303013.1:p.Asp93=
XM_024447248.1:c.237T>C XP_024303016.1:p.Asp79=
XM_024447249.1:c.108T>C XP_024303017.1:p.Asp36=
XM_024447250.1:c.108T>C XP_024303018.1:p.Asp36=
XM_024447251.1:c.108T>C XP_024303019.1:p.Asp36=
XR_001737190.1:n.669T>C
XR_001737192.1:n.481T>C
XR_002956643.1:n.661T>C
XR_002956644.1:n.1196T>C
XR_946658.2:n.769T>C
NM_001048171.2:c.624T>C NP_001041636.2:p.Asp208=
NM_001128425.2:c.708T>C MANE Plus Clinical NP_001121897.1:p.Asp236=
NM_001048172.2:c.627T>C NP_001041637.1:p.Asp209=
NM_001048173.2:c.624T>C NP_001041638.1:p.Asp208=
NM_001048174.2:c.624T>C MANE Select NP_001041639.1:p.Asp208=
NM_001293190.2:c.669T>C NP_001280119.1:p.Asp223=
NM_001293191.2:c.657T>C NP_001280120.1:p.Asp219=
NM_001293192.2:c.348T>C NP_001280121.1:p.Asp116=
NM_001293195.2:c.624T>C NP_001280124.1:p.Asp208=
NM_001293196.2:c.348T>C NP_001280125.1:p.Asp116=
NM_001350650.2:c.279T>C NP_001337579.1:p.Asp93=
NM_001350651.2:c.279T>C NP_001337580.1:p.Asp93=
NM_012222.3:c.699T>C NP_036354.1:p.Asp233=
NR_146882.2:n.852T>C
NR_146883.2:n.701T>C