Canonical Allele Identifier: CA417880264
Gene: MUTYH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.45798134T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332462T>G , CM000663.2:g.45332462T>G GRCh38
NC_000001.10:g.45798134T>G , CM000663.1:g.45798134T>G GRCh37
NC_000001.9:g.45570721T>G NCBI36
NG_008189.1:g.13009A>C , LRG_220:g.13009A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450313.6:c.643A>C ENSP00000408176.2:p.Ser215Arg
ENST00000456914.7:c.633A>C MANE Select ENSP00000407590.2:p.Val211=
ENST00000461495.6:c.*372A>C ENSP00000437166.1:p.=
ENST00000671898.1:c.1221A>C ENSP00000499896.1:p.Val407=
ENST00000672011.1:c.601A>C ENSP00000500418.1:p.Ser201Arg
ENST00000672314.1:c.633A>C ENSP00000500828.1:p.Val211=
ENST00000672593.1:c.*606A>C ENSP00000500455.1:p.=
ENST00000672764.1:c.592A>C ENSP00000500886.1:p.Ser198Arg
ENST00000672818.2:c.708A>C ENSP00000500891.1:p.Val236=
ENST00000673134.1:c.*330A>C ENSP00000500526.1:p.=
ENST00000674679.1:n.661A>C ENSP00000501623.1:p.=
ENST00000354383.10:c.636A>C ENSP00000346354.6:p.Val212=
ENST00000355498.6:c.633A>C ENSP00000347685.2:p.Val211=
ENST00000372098.7:c.708A>C ENSP00000361170.3:p.Val236=
ENST00000372104.5:c.633A>C ENSP00000361176.1:p.Val211=
ENST00000372110.7:c.678A>C ENSP00000361182.3:p.Val226=
ENST00000372115.7:c.675A>C ENSP00000361187.3:p.Val225=
ENST00000412971.5:c.249A>C ENSP00000410263.1:p.Val83=
ENST00000435155.1:c.666A>C ENSP00000403655.1:p.Val222=
ENST00000448481.5:c.666A>C ENSP00000409718.1:p.Val222=
ENST00000450313.5:c.717A>C ENSP00000408176.1:p.Val239=
ENST00000456914.6:c.633A>C ENSP00000407590.2:p.Val211=
ENST00000461495.5:c.*372A>C ENSP00000437166.1:p.=
ENST00000462388.5:n.324A>C
ENST00000467459.5:n.27A>C ENSP00000435889.1:p.Val9=
ENST00000467940.5:c.*556A>C ENSP00000436478.1:p.=
ENST00000470256.5:c.520A>C ENSP00000434985.1:p.Ser174Arg
ENST00000475516.5:c.*446A>C ENSP00000433843.1:p.=
ENST00000478796.5:n.620A>C
ENST00000481571.5:c.*446A>C ENSP00000436597.1:p.=
ENST00000488731.6:c.187+301A>C ENSP00000432330.1:p.=
ENST00000525160.5:c.*284A>C ENSP00000431568.1:p.=
ENST00000528013.6:c.675A>C ENSP00000433130.2:p.Val225=
ENST00000529984.5:c.187+301A>C ENSP00000437093.1:p.=
ENST00000531105.5:c.115+1929A>C ENSP00000431292.1:p.=
ENST00000533178.5:n.262A>C ENSP00000436430.1:p.Ser88Arg
NM_001048171.1:c.675A>C NP_001041636.1:p.Val225=
NM_001048172.1:c.636A>C NP_001041637.1:p.Val212=
NM_001048173.1:c.633A>C NP_001041638.1:p.Val211=
NM_001048174.1:c.633A>C NP_001041639.1:p.Val211=
NM_001128425.1:c.717A>C , LRG_220t1:c.717A>C NP_001121897.1:p.Val239=
NM_001293190.1:c.678A>C NP_001280119.1:p.Val226=
NM_001293191.1:c.666A>C NP_001280120.1:p.Val222=
NM_001293192.1:c.357A>C NP_001280121.1:p.Val119=
NM_001293195.1:c.633A>C NP_001280124.1:p.Val211=
NM_001293196.1:c.357A>C NP_001280125.1:p.Val119=
NM_012222.2:c.708A>C NP_036354.1:p.Val236=
XM_011541497.1:c.693A>C XP_011539799.1:p.Val231=
XM_011541498.1:c.675A>C XP_011539800.1:p.Val225=
XM_011541499.1:c.675A>C XP_011539801.1:p.Val225=
XM_011541500.1:c.675A>C XP_011539802.1:p.Val225=
XM_011541501.1:c.675A>C XP_011539803.1:p.Val225=
XM_011541502.1:c.675A>C XP_011539804.1:p.Val225=
XM_011541503.1:c.675A>C XP_011539805.1:p.Val225=
XM_011541504.1:c.666A>C XP_011539806.1:p.Val222=
XM_011541505.1:c.255A>C XP_011539807.1:p.Val85=
XM_011541506.1:c.255A>C XP_011539808.1:p.Val85=
XM_011541507.1:c.246A>C XP_011539809.1:p.Val82=
XM_011541508.1:c.261A>C XP_011539810.1:p.Val87=
XR_946658.1:n.764A>C
NM_001350650.1:c.288A>C NP_001337579.1:p.Val96=
NM_001350651.1:c.288A>C NP_001337580.1:p.Val96=
NR_146882.1:n.891A>C
NR_146883.1:n.705A>C
XM_011541497.3:c.693A>C XP_011539799.1:p.Val231=
XM_011541500.3:c.675A>C XP_011539802.1:p.Val225=
XM_011541501.2:c.675A>C XP_011539803.1:p.Val225=
XM_011541502.2:c.675A>C XP_011539804.1:p.Val225=
XM_011541503.2:c.675A>C XP_011539805.1:p.Val225=
XM_011541504.2:c.666A>C XP_011539806.1:p.Val222=
XM_011541505.2:c.255A>C XP_011539807.1:p.Val85=
XM_011541506.2:c.255A>C XP_011539808.1:p.Val85=
XM_017001331.1:c.675A>C XP_016856820.1:p.Val225=
XM_017001332.1:c.675A>C XP_016856821.1:p.Val225=
XM_017001333.1:c.675A>C XP_016856822.1:p.Val225=
XM_017001334.1:c.636A>C XP_016856823.1:p.Val212=
XM_017001335.1:c.357A>C XP_016856824.1:p.Val119=
XM_017001336.1:c.288A>C XP_016856825.1:p.Val96=
XM_017001337.1:c.288A>C XP_016856826.1:p.Val96=
XM_024447244.1:c.288A>C XP_024303012.1:p.Val96=
XM_024447245.1:c.288A>C XP_024303013.1:p.Val96=
XM_024447248.1:c.246A>C XP_024303016.1:p.Val82=
XM_024447249.1:c.117A>C XP_024303017.1:p.Val39=
XM_024447250.1:c.117A>C XP_024303018.1:p.Val39=
XM_024447251.1:c.117A>C XP_024303019.1:p.Val39=
XR_001737190.1:n.678A>C
XR_001737192.1:n.490A>C
XR_002956643.1:n.670A>C
XR_002956644.1:n.1205A>C
XR_946658.2:n.778A>C
NM_001048171.2:c.633A>C NP_001041636.2:p.Val211=
NM_001128425.2:c.717A>C NP_001121897.1:p.Val239=
NM_001048172.2:c.636A>C NP_001041637.1:p.Val212=
NM_001048173.2:c.633A>C NP_001041638.1:p.Val211=
NM_001048174.2:c.633A>C MANE Select NP_001041639.1:p.Val211=
NM_001293190.2:c.678A>C NP_001280119.1:p.Val226=
NM_001293191.2:c.666A>C NP_001280120.1:p.Val222=
NM_001293192.2:c.357A>C NP_001280121.1:p.Val119=
NM_001293195.2:c.633A>C NP_001280124.1:p.Val211=
NM_001293196.2:c.357A>C NP_001280125.1:p.Val119=
NM_001350650.2:c.288A>C NP_001337579.1:p.Val96=
NM_001350651.2:c.288A>C NP_001337580.1:p.Val96=
NM_012222.3:c.708A>C NP_036354.1:p.Val236=
NR_146882.2:n.861A>C
NR_146883.2:n.710A>C