Canonical Allele Identifier: CA522562433

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45340040C>A , CM000663.2:g.45340040C>A GRCh38
NC_000001.10:g.45805712C>A , CM000663.1:g.45805712C>A GRCh37
NC_000001.9:g.45578299C>A NCBI36
NG_008189.1:g.5431G>T , LRG_220:g.5431G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.36+179G>T (MUTYH) ENSP00000410263.2:n.36+179G>T
ENST00000435155.2:c.-71G>T (MUTYH) ENSP00000403655.2:n.-71G>T
ENST00000529892.6:c.36+179G>T (MUTYH) ENSP00000432528.2:n.36+179G>T
ENST00000710952.2:c.36+179G>T (MUTYH) MANE Plus Clinical ENSP00000518552.2:n.36+179G>T
ENST00000672818.3:c.36+179G>T (MUTYH) ENSP00000500891.1:n.36+179G>T
ENST00000450313.6:c.36+179G>T (MUTYH) ENSP00000408176.2:n.36+179G>T
ENST00000461495.6:c.36+179G>T (MUTYH) ENSP00000437166.1:n.36+179G>T
ENST00000671856.1:n.14+179G>T (MUTYH)
ENST00000671898.1:c.541-5529G>T ENSP00000499896.1:n.541-5529G>T
ENST00000672011.1:c.36+179G>T (MUTYH) ENSP00000500418.1:n.36+179G>T
ENST00000672764.1:c.-71G>T (MUTYH) ENSP00000500886.1:n.-71G>T
ENST00000672818.2:c.36+179G>T (MUTYH) ENSP00000500891.1:n.36+179G>T
ENST00000354383.10:c.-71G>T (MUTYH) ENSP00000346354.6:n.-71G>T
ENST00000355498.6:c.-71G>T (MUTYH) ENSP00000347685.2:n.-71G>T
ENST00000372090.5:c.-213C>A (TOE1) ENSP00000361162.5:n.-213C>A
ENST00000372098.7:c.36+179G>T (MUTYH) ENSP00000361170.3:n.36+179G>T
ENST00000372110.7:c.36+179G>T (MUTYH) ENSP00000361182.3:n.36+179G>T
ENST00000372115.7:c.36+179G>T (MUTYH) ENSP00000361187.3:n.36+179G>T
ENST00000412971.5:c.36+179G>T (MUTYH) ENSP00000410263.1:n.36+179G>T
ENST00000450313.5:c.36+179G>T (MUTYH) ENSP00000408176.1:n.36+179G>T
ENST00000461495.5:c.36+179G>T (MUTYH) ENSP00000437166.1:n.36+179G>T
ENST00000462387.5:n.214+179G>T (MUTYH)
ENST00000467940.5:c.52+163G>T (MUTYH) ENSP00000436478.1:n.52+163G>T
ENST00000474703.1:n.52G>T (MUTYH)
ENST00000475516.5:c.-71G>T (MUTYH) ENSP00000433843.1:n.-71G>T
ENST00000476789.5:n.214+179G>T (MUTYH)
ENST00000481139.5:n.197+179G>T (MUTYH)
ENST00000481571.5:c.36+179G>T (MUTYH) ENSP00000436597.1:n.36+179G>T
ENST00000483642.5:n.175+183G>T (MUTYH)
ENST00000525160.5:c.36+179G>T (MUTYH) ENSP00000431568.1:n.36+179G>T
ENST00000529984.5:c.-7+179G>T (MUTYH) ENSP00000437093.1:n.-7+179G>T
ENST00000531105.5:c.-71G>T (MUTYH) ENSP00000431292.1:n.-71G>T
ENST00000534453.1:n.196G>T (MUTYH)
NM_001048171.1:c.36+179G>T (MUTYH) NP_001041636.1:n.36+179G>T
NM_001048172.1:c.-71G>T (MUTYH) NP_001041637.1:n.-71G>T
NM_001048173.1:c.-71G>T (MUTYH) NP_001041638.1:n.-71G>T
NM_001128425.1:c.36+179G>T , LRG_220t1:c.36+179G>T (MUTYH) NP_001121897.1:n.36+179G>T
NM_001293190.1:c.36+179G>T (MUTYH) NP_001280119.1:n.36+179G>T
NM_001293192.1:c.-219+179G>T (MUTYH) NP_001280121.1:n.-219+179G>T
NM_001293196.1:c.-283G>T (MUTYH) NP_001280125.1:n.-283G>T
NM_012222.2:c.36+179G>T (MUTYH) NP_036354.1:n.36+179G>T
NM_025077.3:c.-213C>A (TOE1) NP_079353.3:n.-213C>A
XM_011541498.1:c.-71G>T (MUTYH) XP_011539800.1:n.-71G>T
XM_011541503.1:c.36+179G>T (MUTYH) XP_011539805.1:n.36+179G>T
XM_011541504.1:c.-71G>T (MUTYH) XP_011539806.1:n.-71G>T
XM_011541505.1:c.-80+179G>T (MUTYH) XP_011539807.1:n.-80+179G>T
XM_011541506.1:c.-144G>T (MUTYH) XP_011539808.1:n.-144G>T
XR_246230.2:n.65C>A (TOE1)
XR_946658.1:n.83+179G>T (MUTYH)
NM_001350650.1:c.-278+179G>T (MUTYH) NP_001337579.1:n.-278+179G>T
NM_001350651.1:c.-214+179G>T (MUTYH) NP_001337580.1:n.-214+179G>T
NR_146882.1:n.252+179G>T (MUTYH)
NR_146883.1:n.76G>T (MUTYH)
XM_011541503.2:c.36+179G>T (MUTYH) XP_011539805.1:n.36+179G>T
XM_011541504.2:c.-71G>T (MUTYH) XP_011539806.1:n.-71G>T
XM_011541505.2:c.-80+179G>T (MUTYH) XP_011539807.1:n.-80+179G>T
XM_011541506.2:c.-144G>T (MUTYH) XP_011539808.1:n.-144G>T
XM_017001331.1:c.-7+163G>T (MUTYH) XP_016856820.1:n.-7+163G>T
XM_017001332.1:c.-7+183G>T (MUTYH) XP_016856821.1:n.-7+183G>T
XM_017001335.1:c.-219+163G>T (MUTYH) XP_016856824.1:n.-219+163G>T
XM_017001336.1:c.-311+179G>T (MUTYH) XP_016856825.1:n.-311+179G>T
XM_017001337.1:c.-375G>T (MUTYH) XP_016856826.1:n.-375G>T
XM_024447244.1:c.-320+179G>T (MUTYH) XP_024303012.1:n.-320+179G>T
XM_024447245.1:c.-345G>T (MUTYH) XP_024303013.1:n.-345G>T
XM_024447248.1:c.-278+179G>T (MUTYH) XP_024303016.1:n.-278+179G>T
XM_024447249.1:c.-774+183G>T (MUTYH) XP_024303017.1:n.-774+183G>T
XM_024447250.1:c.-777+163G>T (MUTYH) XP_024303018.1:n.-777+163G>T
XR_001737190.1:n.103+179G>T (MUTYH)
XR_002956643.1:n.211+179G>T (MUTYH)
XR_002956644.1:n.229+179G>T (MUTYH)
XR_002959287.1:n.290C>A (TOE1)
XR_946658.2:n.97+179G>T (MUTYH)
NM_001048171.2:c.-7+179G>T (MUTYH) NP_001041636.2:n.-7+179G>T
NM_001128425.2:c.36+179G>T (MUTYH) MANE Plus Clinical NP_001121897.1:n.36+179G>T
NM_001048172.2:c.-71G>T (MUTYH) NP_001041637.1:n.-71G>T
NM_001048173.2:c.-71G>T (MUTYH) NP_001041638.1:n.-71G>T
NM_001293190.2:c.36+179G>T (MUTYH) NP_001280119.1:n.36+179G>T
NM_001293192.2:c.-219+179G>T (MUTYH) NP_001280121.1:n.-219+179G>T
NM_001293196.2:c.-283G>T (MUTYH) NP_001280125.1:n.-283G>T
NM_001350650.2:c.-278+179G>T (MUTYH) NP_001337579.1:n.-278+179G>T
NM_001350651.2:c.-214+179G>T (MUTYH) NP_001337580.1:n.-214+179G>T
NM_012222.3:c.36+179G>T (MUTYH) NP_036354.1:n.36+179G>T
NR_146882.2:n.222+179G>T (MUTYH)
NR_146883.2:n.81G>T (MUTYH)