Canonical Allele Identifier: CA417880268
Gene: MUTYH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.45798140G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332468G>C , CM000663.2:g.45332468G>C GRCh38
NC_000001.10:g.45798140G>C , CM000663.1:g.45798140G>C GRCh37
NC_000001.9:g.45570727G>C NCBI36
NG_008189.1:g.13003C>G , LRG_220:g.13003C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450313.6:c.637C>G ENSP00000408176.2:p.Gln213Glu
ENST00000456914.7:c.627C>G MANE Select ENSP00000407590.2:p.Gly209=
ENST00000461495.6:c.*366C>G ENSP00000437166.1:p.=
ENST00000671898.1:c.1215C>G ENSP00000499896.1:p.Gly405=
ENST00000672011.1:c.595C>G ENSP00000500418.1:p.Gln199Glu
ENST00000672314.1:c.627C>G ENSP00000500828.1:p.Gly209=
ENST00000672593.1:c.*600C>G ENSP00000500455.1:p.=
ENST00000672764.1:c.586C>G ENSP00000500886.1:p.Gln196Glu
ENST00000672818.2:c.702C>G ENSP00000500891.1:p.Gly234=
ENST00000673134.1:c.*324C>G ENSP00000500526.1:p.=
ENST00000674679.1:n.655C>G ENSP00000501623.1:p.=
ENST00000354383.10:c.630C>G ENSP00000346354.6:p.Gly210=
ENST00000355498.6:c.627C>G ENSP00000347685.2:p.Gly209=
ENST00000372098.7:c.702C>G ENSP00000361170.3:p.Gly234=
ENST00000372104.5:c.627C>G ENSP00000361176.1:p.Gly209=
ENST00000372110.7:c.672C>G ENSP00000361182.3:p.Gly224=
ENST00000372115.7:c.669C>G ENSP00000361187.3:p.Gly223=
ENST00000412971.5:c.243C>G ENSP00000410263.1:p.Gly81=
ENST00000435155.1:c.660C>G ENSP00000403655.1:p.Gly220=
ENST00000448481.5:c.660C>G ENSP00000409718.1:p.Gly220=
ENST00000450313.5:c.711C>G ENSP00000408176.1:p.Gly237=
ENST00000456914.6:c.627C>G ENSP00000407590.2:p.Gly209=
ENST00000461495.5:c.*366C>G ENSP00000437166.1:p.=
ENST00000462388.5:n.318C>G
ENST00000467459.5:n.21C>G ENSP00000435889.1:p.Gly7=
ENST00000467940.5:c.*550C>G ENSP00000436478.1:p.=
ENST00000470256.5:c.514C>G ENSP00000434985.1:p.Gln172Glu
ENST00000475516.5:c.*440C>G ENSP00000433843.1:p.=
ENST00000478796.5:n.614C>G
ENST00000481571.5:c.*440C>G ENSP00000436597.1:p.=
ENST00000488731.6:c.187+295C>G ENSP00000432330.1:p.=
ENST00000525160.5:c.*278C>G ENSP00000431568.1:p.=
ENST00000528013.6:c.669C>G ENSP00000433130.2:p.Gly223=
ENST00000529984.5:c.187+295C>G ENSP00000437093.1:p.=
ENST00000531105.5:c.115+1923C>G ENSP00000431292.1:p.=
ENST00000533178.5:n.256C>G ENSP00000436430.1:p.Gln86Glu
NM_001048171.1:c.669C>G NP_001041636.1:p.Gly223=
NM_001048172.1:c.630C>G NP_001041637.1:p.Gly210=
NM_001048173.1:c.627C>G NP_001041638.1:p.Gly209=
NM_001048174.1:c.627C>G NP_001041639.1:p.Gly209=
NM_001128425.1:c.711C>G , LRG_220t1:c.711C>G NP_001121897.1:p.Gly237=
NM_001293190.1:c.672C>G NP_001280119.1:p.Gly224=
NM_001293191.1:c.660C>G NP_001280120.1:p.Gly220=
NM_001293192.1:c.351C>G NP_001280121.1:p.Gly117=
NM_001293195.1:c.627C>G NP_001280124.1:p.Gly209=
NM_001293196.1:c.351C>G NP_001280125.1:p.Gly117=
NM_012222.2:c.702C>G NP_036354.1:p.Gly234=
XM_011541497.1:c.687C>G XP_011539799.1:p.Gly229=
XM_011541498.1:c.669C>G XP_011539800.1:p.Gly223=
XM_011541499.1:c.669C>G XP_011539801.1:p.Gly223=
XM_011541500.1:c.669C>G XP_011539802.1:p.Gly223=
XM_011541501.1:c.669C>G XP_011539803.1:p.Gly223=
XM_011541502.1:c.669C>G XP_011539804.1:p.Gly223=
XM_011541503.1:c.669C>G XP_011539805.1:p.Gly223=
XM_011541504.1:c.660C>G XP_011539806.1:p.Gly220=
XM_011541505.1:c.249C>G XP_011539807.1:p.Gly83=
XM_011541506.1:c.249C>G XP_011539808.1:p.Gly83=
XM_011541507.1:c.240C>G XP_011539809.1:p.Gly80=
XM_011541508.1:c.255C>G XP_011539810.1:p.Gly85=
XR_946658.1:n.758C>G
NM_001350650.1:c.282C>G NP_001337579.1:p.Gly94=
NM_001350651.1:c.282C>G NP_001337580.1:p.Gly94=
NR_146882.1:n.885C>G
NR_146883.1:n.699C>G
XM_011541497.3:c.687C>G XP_011539799.1:p.Gly229=
XM_011541500.3:c.669C>G XP_011539802.1:p.Gly223=
XM_011541501.2:c.669C>G XP_011539803.1:p.Gly223=
XM_011541502.2:c.669C>G XP_011539804.1:p.Gly223=
XM_011541503.2:c.669C>G XP_011539805.1:p.Gly223=
XM_011541504.2:c.660C>G XP_011539806.1:p.Gly220=
XM_011541505.2:c.249C>G XP_011539807.1:p.Gly83=
XM_011541506.2:c.249C>G XP_011539808.1:p.Gly83=
XM_017001331.1:c.669C>G XP_016856820.1:p.Gly223=
XM_017001332.1:c.669C>G XP_016856821.1:p.Gly223=
XM_017001333.1:c.669C>G XP_016856822.1:p.Gly223=
XM_017001334.1:c.630C>G XP_016856823.1:p.Gly210=
XM_017001335.1:c.351C>G XP_016856824.1:p.Gly117=
XM_017001336.1:c.282C>G XP_016856825.1:p.Gly94=
XM_017001337.1:c.282C>G XP_016856826.1:p.Gly94=
XM_024447244.1:c.282C>G XP_024303012.1:p.Gly94=
XM_024447245.1:c.282C>G XP_024303013.1:p.Gly94=
XM_024447248.1:c.240C>G XP_024303016.1:p.Gly80=
XM_024447249.1:c.111C>G XP_024303017.1:p.Gly37=
XM_024447250.1:c.111C>G XP_024303018.1:p.Gly37=
XM_024447251.1:c.111C>G XP_024303019.1:p.Gly37=
XR_001737190.1:n.672C>G
XR_001737192.1:n.484C>G
XR_002956643.1:n.664C>G
XR_002956644.1:n.1199C>G
XR_946658.2:n.772C>G
NM_001048171.2:c.627C>G NP_001041636.2:p.Gly209=
NM_001128425.2:c.711C>G NP_001121897.1:p.Gly237=
NM_001048172.2:c.630C>G NP_001041637.1:p.Gly210=
NM_001048173.2:c.627C>G NP_001041638.1:p.Gly209=
NM_001048174.2:c.627C>G MANE Select NP_001041639.1:p.Gly209=
NM_001293190.2:c.672C>G NP_001280119.1:p.Gly224=
NM_001293191.2:c.660C>G NP_001280120.1:p.Gly220=
NM_001293192.2:c.351C>G NP_001280121.1:p.Gly117=
NM_001293195.2:c.627C>G NP_001280124.1:p.Gly209=
NM_001293196.2:c.351C>G NP_001280125.1:p.Gly117=
NM_001350650.2:c.282C>G NP_001337579.1:p.Gly94=
NM_001350651.2:c.282C>G NP_001337580.1:p.Gly94=
NM_012222.3:c.702C>G NP_036354.1:p.Gly234=
NR_146882.2:n.855C>G
NR_146883.2:n.704C>G