Canonical Allele Identifier: CA340137833

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45340220C>G , CM000663.2:g.45340220C>G GRCh38
NC_000001.10:g.45805892C>G , CM000663.1:g.45805892C>G GRCh37
NC_000001.9:g.45578479C>G NCBI36
NG_008189.1:g.5251G>C , LRG_220:g.5251G>C

Transcript Alleles

HGVS Amino-acid Change
NM_025077.4:c.-33C>G (TOE1) MANE Select NP_079353.3:n.-33C>G
ENST00000372090.6:c.-33C>G (TOE1) MANE Select ENSP00000361162.5:n.-33C>G
NM_001128425.2:c.35G>C (MUTYH) MANE Plus Clinical NP_001121897.1:p.Trp12Ser
ENST00000710952.2:c.35G>C (MUTYH) MANE Plus Clinical ENSP00000518552.2:p.Trp12Ser
NM_001048171.1:c.35G>C (MUTYH) NP_001041636.1:p.Trp12Ser
NM_001048171.2:c.-8G>C (MUTYH) NP_001041636.2:n.-8G>C
NM_001128425.1:c.35G>C , LRG_220t1:c.35G>C (MUTYH) NP_001121897.1:p.Trp12Ser
NM_001293190.1:c.35G>C (MUTYH) NP_001280119.1:p.Trp12Ser
NM_001293190.2:c.35G>C (MUTYH) NP_001280119.1:p.Trp12Ser
NM_001293192.1:c.-220G>C (MUTYH) NP_001280121.1:n.-220G>C
NM_001293192.2:c.-220G>C (MUTYH) NP_001280121.1:n.-220G>C
NM_001350650.1:c.-279G>C (MUTYH) NP_001337579.1:n.-279G>C
NM_001350650.2:c.-279G>C (MUTYH) NP_001337579.1:n.-279G>C
NM_001350651.1:c.-215G>C (MUTYH) NP_001337580.1:n.-215G>C
NM_001350651.2:c.-215G>C (MUTYH) NP_001337580.1:n.-215G>C
NM_012222.2:c.35G>C (MUTYH) NP_036354.1:p.Trp12Ser
NM_012222.3:c.35G>C (MUTYH) NP_036354.1:p.Trp12Ser
NM_025077.3:c.-33C>G (TOE1) NP_079353.3:n.-33C>G
NR_146882.1:n.251G>C (MUTYH)
NR_146882.2:n.221G>C (MUTYH)
ENST00000372090.5:c.-33C>G (TOE1) ENSP00000361162.5:n.-33C>G
ENST00000372098.7:c.35G>C (MUTYH) ENSP00000361170.3:p.Trp12Ser
ENST00000372110.7:c.35G>C (MUTYH) ENSP00000361182.3:p.Trp12Ser
ENST00000372115.7:c.35G>C (MUTYH) ENSP00000361187.3:p.Trp12Ser
ENST00000412971.5:c.35G>C (MUTYH) ENSP00000410263.1:p.Trp12Ser
ENST00000412971.6:c.35G>C (MUTYH) ENSP00000410263.2:p.Trp12Ser
ENST00000450313.5:c.35G>C (MUTYH) ENSP00000408176.1:p.Trp12Ser
ENST00000450313.6:c.35G>C (MUTYH) ENSP00000408176.2:p.Trp12Ser
ENST00000461495.5:c.35G>C (MUTYH) ENSP00000437166.1:p.Trp12Ser
ENST00000461495.6:c.35G>C (MUTYH) ENSP00000437166.1:p.Trp12Ser
ENST00000462387.5:n.213G>C (MUTYH)
ENST00000467940.5:c.35G>C (MUTYH) ENSP00000436478.1:p.Trp12Ser
ENST00000471337.5:n.46C>G (TOE1)
ENST00000476789.5:n.213G>C (MUTYH)
ENST00000477731.5:n.169C>G (TOE1)
ENST00000481139.5:n.196G>C (MUTYH)
ENST00000481571.5:c.35G>C (MUTYH) ENSP00000436597.1:p.Trp12Ser
ENST00000483642.5:n.175+3G>C (MUTYH)
ENST00000525160.5:c.35G>C (MUTYH) ENSP00000431568.1:p.Trp12Ser
ENST00000529892.6:c.35G>C (MUTYH) ENSP00000432528.2:p.Trp12Ser
ENST00000529984.5:c.-8G>C (MUTYH) ENSP00000437093.1:n.-8G>C
ENST00000534453.1:n.16G>C (MUTYH)
ENST00000671856.1:n.13G>C (MUTYH)
ENST00000671898.1:c.541-5709G>C ENSP00000499896.1:n.541-5709G>C
ENST00000672011.1:c.35G>C (MUTYH) ENSP00000500418.1:p.Trp12Ser
ENST00000672818.2:c.35G>C (MUTYH) ENSP00000500891.1:p.Trp12Ser
ENST00000672818.3:c.35G>C (MUTYH) ENSP00000500891.1:p.Trp12Ser
XM_005270412.2:c.-33C>G (TOE1) XP_005270469.1:n.-33C>G
XM_005270412.4:c.-33C>G (TOE1) XP_005270469.1:n.-33C>G
XM_005270413.5:c.-409C>G (TOE1) XP_005270470.1:n.-409C>G
XM_011540569.1:c.-317C>G (TOE1) XP_011538871.1:n.-317C>G
XM_011540569.3:c.-317C>G (TOE1) XP_011538871.1:n.-317C>G
XM_011541503.1:c.35G>C (MUTYH) XP_011539805.1:p.Trp12Ser
XM_011541503.2:c.35G>C (MUTYH) XP_011539805.1:p.Trp12Ser
XM_011541505.1:c.-81G>C (MUTYH) XP_011539807.1:n.-81G>C
XM_011541505.2:c.-81G>C (MUTYH) XP_011539807.1:n.-81G>C
XM_017001331.1:c.-24G>C (MUTYH) XP_016856820.1:n.-24G>C
XM_017001332.1:c.-7+3G>C (MUTYH) XP_016856821.1:n.-7+3G>C
XM_017001335.1:c.-236G>C (MUTYH) XP_016856824.1:n.-236G>C
XM_017001336.1:c.-312G>C (MUTYH) XP_016856825.1:n.-312G>C
XM_024447244.1:c.-321G>C (MUTYH) XP_024303012.1:n.-321G>C
XM_024447248.1:c.-279G>C (MUTYH) XP_024303016.1:n.-279G>C
XM_024447249.1:c.-774+3G>C (MUTYH) XP_024303017.1:n.-774+3G>C
XM_024447250.1:c.-794G>C (MUTYH) XP_024303018.1:n.-794G>C
XM_024452837.1:c.-409C>G (TOE1) XP_024308605.1:n.-409C>G
XR_001736951.2:n.155C>G (TOE1)
XR_001737190.1:n.102G>C (MUTYH)
XR_002956643.1:n.210G>C (MUTYH)
XR_002956644.1:n.228G>C (MUTYH)
XR_002959287.1:n.470C>G (TOE1)
XR_246230.2:n.245C>G (TOE1)
XR_246230.4:n.155C>G (TOE1)
XR_426587.2:n.47C>G (TOE1)
XR_426587.4:n.47C>G (TOE1)
XR_946532.1:n.47C>G (TOE1)
XR_946532.3:n.47C>G (TOE1)
XR_946658.1:n.82G>C (MUTYH)
XR_946658.2:n.96G>C (MUTYH)