Canonical Allele Identifier: CA012678

Gene: MUTYH TOE1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45340242C>G , CM000663.2:g.45340242C>G	GRCh38
NC_000001.10:g.45805914C>G , CM000663.1:g.45805914C>G	GRCh37
NC_000001.9:g.45578501C>G	NCBI36
NG_008189.1:g.5229G>C , LRG_220:g.5229G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025077.4:c.-11C>G (TOE1) MANE Select	NP_079353.3:n.-11C>G
ENST00000372090.6:c.-11C>G (TOE1) MANE Select	ENSP00000361162.5:n.-11C>G
NM_001128425.2:c.13G>C (MUTYH) MANE Plus Clinical	NP_001121897.1:p.Val5Leu
ENST00000710952.2:c.13G>C (MUTYH) MANE Plus Clinical	ENSP00000518552.2:p.Val5Leu
NM_001048171.1:c.13G>C (MUTYH)	NP_001041636.1:p.Val5Leu
NM_001048171.2:c.-30G>C (MUTYH)	NP_001041636.2:n.-30G>C
NM_001128425.1:c.13G>C , LRG_220t1:c.13G>C (MUTYH)	NP_001121897.1:p.Val5Leu
NM_001293190.1:c.13G>C (MUTYH)	NP_001280119.1:p.Val5Leu
NM_001293190.2:c.13G>C (MUTYH)	NP_001280119.1:p.Val5Leu
NM_001293192.1:c.-242G>C (MUTYH)	NP_001280121.1:n.-242G>C
NM_001293192.2:c.-242G>C (MUTYH)	NP_001280121.1:n.-242G>C
NM_001350650.1:c.-301G>C (MUTYH)	NP_001337579.1:n.-301G>C
NM_001350650.2:c.-301G>C (MUTYH)	NP_001337579.1:n.-301G>C
NM_001350651.1:c.-237G>C (MUTYH)	NP_001337580.1:n.-237G>C
NM_001350651.2:c.-237G>C (MUTYH)	NP_001337580.1:n.-237G>C
NM_012222.2:c.13G>C (MUTYH)	NP_036354.1:p.Val5Leu
NM_012222.3:c.13G>C (MUTYH)	NP_036354.1:p.Val5Leu
NM_025077.3:c.-11C>G (TOE1)	NP_079353.3:n.-11C>G
NR_146882.1:n.229G>C (MUTYH)
NR_146882.2:n.199G>C (MUTYH)
ENST00000372090.5:c.-11C>G (TOE1)	ENSP00000361162.5:n.-11C>G
ENST00000372098.7:c.13G>C (MUTYH)	ENSP00000361170.3:p.Val5Leu
ENST00000372110.7:c.13G>C (MUTYH)	ENSP00000361182.3:p.Val5Leu
ENST00000372115.7:c.13G>C (MUTYH)	ENSP00000361187.3:p.Val5Leu
ENST00000412971.5:c.13G>C (MUTYH)	ENSP00000410263.1:p.Val5Leu
ENST00000412971.6:c.13G>C (MUTYH)	ENSP00000410263.2:p.Val5Leu
ENST00000450313.5:c.13G>C (MUTYH)	ENSP00000408176.1:p.Val5Leu
ENST00000450313.6:c.13G>C (MUTYH)	ENSP00000408176.2:p.Val5Leu
ENST00000461495.5:c.13G>C (MUTYH)	ENSP00000437166.1:p.Val5Leu
ENST00000461495.6:c.13G>C (MUTYH)	ENSP00000437166.1:p.Val5Leu
ENST00000462387.5:n.191G>C (MUTYH)
ENST00000467940.5:c.13G>C (MUTYH)	ENSP00000436478.1:p.Val5Leu
ENST00000471337.5:n.68C>G (TOE1)
ENST00000476789.5:n.191G>C (MUTYH)
ENST00000477731.5:n.191C>G (TOE1)
ENST00000481139.5:n.174G>C (MUTYH)
ENST00000481571.5:c.13G>C (MUTYH)	ENSP00000436597.1:p.Val5Leu
ENST00000483642.5:n.156G>C (MUTYH)
ENST00000495703.5:n.22C>G (TOE1)
ENST00000525160.5:c.13G>C (MUTYH)	ENSP00000431568.1:p.Val5Leu
ENST00000529892.6:c.13G>C (MUTYH)	ENSP00000432528.2:p.Val5Leu
ENST00000529984.5:c.-30G>C (MUTYH)	ENSP00000437093.1:n.-30G>C
ENST00000671898.1:c.541-5731G>C	ENSP00000499896.1:n.541-5731G>C
ENST00000672011.1:c.13G>C (MUTYH)	ENSP00000500418.1:p.Val5Leu
ENST00000672818.2:c.13G>C (MUTYH)	ENSP00000500891.1:p.Val5Leu
ENST00000672818.3:c.13G>C (MUTYH)	ENSP00000500891.1:p.Val5Leu
XM_005270412.2:c.-11C>G (TOE1)	XP_005270469.1:n.-11C>G
XM_005270412.4:c.-11C>G (TOE1)	XP_005270469.1:n.-11C>G
XM_005270413.3:c.-387C>G (TOE1)	XP_005270470.1:n.-387C>G
XM_005270413.5:c.-387C>G (TOE1)	XP_005270470.1:n.-387C>G
XM_011540569.1:c.-295C>G (TOE1)	XP_011538871.1:n.-295C>G
XM_011540569.3:c.-295C>G (TOE1)	XP_011538871.1:n.-295C>G
XM_011541503.1:c.13G>C (MUTYH)	XP_011539805.1:p.Val5Leu
XM_011541503.2:c.13G>C (MUTYH)	XP_011539805.1:p.Val5Leu
XM_011541505.1:c.-103G>C (MUTYH)	XP_011539807.1:n.-103G>C
XM_011541505.2:c.-103G>C (MUTYH)	XP_011539807.1:n.-103G>C
XM_017001331.1:c.-46G>C (MUTYH)	XP_016856820.1:n.-46G>C
XM_017001332.1:c.-26G>C (MUTYH)	XP_016856821.1:n.-26G>C
XM_017001335.1:c.-258G>C (MUTYH)	XP_016856824.1:n.-258G>C
XM_017001336.1:c.-334G>C (MUTYH)	XP_016856825.1:n.-334G>C
XM_024447244.1:c.-343G>C (MUTYH)	XP_024303012.1:n.-343G>C
XM_024447248.1:c.-301G>C (MUTYH)	XP_024303016.1:n.-301G>C
XM_024447249.1:c.-793G>C (MUTYH)	XP_024303017.1:n.-793G>C
XM_024447250.1:c.-816G>C (MUTYH)	XP_024303018.1:n.-816G>C
XM_024452837.1:c.-387C>G (TOE1)	XP_024308605.1:n.-387C>G
XR_001736951.2:n.177C>G (TOE1)
XR_001737190.1:n.80G>C (MUTYH)
XR_002956643.1:n.188G>C (MUTYH)
XR_002956644.1:n.206G>C (MUTYH)
XR_002959287.1:n.492C>G (TOE1)
XR_246230.2:n.267C>G (TOE1)
XR_246230.4:n.177C>G (TOE1)
XR_426587.2:n.69C>G (TOE1)
XR_426587.4:n.69C>G (TOE1)
XR_946532.1:n.69C>G (TOE1)
XR_946532.3:n.69C>G (TOE1)
XR_946658.1:n.60G>C (MUTYH)
XR_946658.2:n.74G>C (MUTYH)