Canonical Allele Identifier: CA089494

Gene: MUTYH TOE1

Linked Data

• ClinVar Variation Id: 1358366
• ClinVar RCV Id: RCV001878606
• dbSNP Id: rs767402084
• ExAC: 1:45805891 C / G
• gnomAD v2: 1-45805891-C-G
• gnomAD v4: 1-45340219-C-G
• MyVariant Identifiers: chr1:g.45805891C>G (hg19) ; chr1:g.45340219C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45340219C>G , CM000663.2:g.45340219C>G	GRCh38
NC_000001.10:g.45805891C>G , CM000663.1:g.45805891C>G	GRCh37
NC_000001.9:g.45578478C>G	NCBI36
NG_008189.1:g.5252G>C , LRG_220:g.5252G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.36G>C (MUTYH)	ENSP00000410263.2:p.Trp12Cys
ENST00000529892.6:c.36G>C (MUTYH)	ENSP00000432528.2:p.Trp12Cys
ENST00000710952.2:c.36G>C (MUTYH) MANE Plus Clinical	ENSP00000518552.2:p.Trp12Cys
ENST00000672818.3:c.36G>C (MUTYH)	ENSP00000500891.1:p.Trp12Cys
ENST00000372090.6:c.-34C>G (TOE1) MANE Select	ENSP00000361162.5:n.-34C>G
ENST00000450313.6:c.36G>C (MUTYH)	ENSP00000408176.2:p.Trp12Cys
ENST00000461495.6:c.36G>C (MUTYH)	ENSP00000437166.1:p.Trp12Cys
ENST00000671856.1:n.14G>C (MUTYH)
ENST00000671898.1:c.541-5708G>C	ENSP00000499896.1:n.541-5708G>C
ENST00000672011.1:c.36G>C (MUTYH)	ENSP00000500418.1:p.Trp12Cys
ENST00000672818.2:c.36G>C (MUTYH)	ENSP00000500891.1:p.Trp12Cys
ENST00000372090.5:c.-34C>G (TOE1)	ENSP00000361162.5:n.-34C>G
ENST00000372098.7:c.36G>C (MUTYH)	ENSP00000361170.3:p.Trp12Cys
ENST00000372110.7:c.36G>C (MUTYH)	ENSP00000361182.3:p.Trp12Cys
ENST00000372115.7:c.36G>C (MUTYH)	ENSP00000361187.3:p.Trp12Cys
ENST00000412971.5:c.36G>C (MUTYH)	ENSP00000410263.1:p.Trp12Cys
ENST00000450313.5:c.36G>C (MUTYH)	ENSP00000408176.1:p.Trp12Cys
ENST00000461495.5:c.36G>C (MUTYH)	ENSP00000437166.1:p.Trp12Cys
ENST00000462387.5:n.214G>C (MUTYH)
ENST00000467940.5:c.36G>C (MUTYH)	ENSP00000436478.1:p.Trp12Cys
ENST00000471337.5:n.45C>G (TOE1)
ENST00000476789.5:n.214G>C (MUTYH)
ENST00000477731.5:n.168C>G (TOE1)
ENST00000481139.5:n.197G>C (MUTYH)
ENST00000481571.5:c.36G>C (MUTYH)	ENSP00000436597.1:p.Trp12Cys
ENST00000483642.5:n.175+4G>C (MUTYH)
ENST00000525160.5:c.36G>C (MUTYH)	ENSP00000431568.1:p.Trp12Cys
ENST00000529984.5:c.-7G>C (MUTYH)	ENSP00000437093.1:n.-7G>C
ENST00000534453.1:n.17G>C (MUTYH)
NM_001048171.1:c.36G>C (MUTYH)	NP_001041636.1:p.Trp12Cys
NM_001128425.1:c.36G>C , LRG_220t1:c.36G>C (MUTYH)	NP_001121897.1:p.Trp12Cys
NM_001293190.1:c.36G>C (MUTYH)	NP_001280119.1:p.Trp12Cys
NM_001293192.1:c.-219G>C (MUTYH)	NP_001280121.1:n.-219G>C
NM_012222.2:c.36G>C (MUTYH)	NP_036354.1:p.Trp12Cys
NM_025077.3:c.-34C>G (TOE1)	NP_079353.3:n.-34C>G
XM_005270412.2:c.-34C>G (TOE1)	XP_005270469.1:n.-34C>G
XM_011540569.1:c.-318C>G (TOE1)	XP_011538871.1:n.-318C>G
XM_011541503.1:c.36G>C (MUTYH)	XP_011539805.1:p.Trp12Cys
XM_011541505.1:c.-80G>C (MUTYH)	XP_011539807.1:n.-80G>C
XR_246230.2:n.244C>G (TOE1)
XR_426587.2:n.46C>G (TOE1)
XR_946532.1:n.46C>G (TOE1)
XR_946658.1:n.83G>C (MUTYH)
NM_001350650.1:c.-278G>C (MUTYH)	NP_001337579.1:n.-278G>C
NM_001350651.1:c.-214G>C (MUTYH)	NP_001337580.1:n.-214G>C
NR_146882.1:n.252G>C (MUTYH)
XM_005270412.4:c.-34C>G (TOE1)	XP_005270469.1:n.-34C>G
XM_005270413.5:c.-410C>G (TOE1)	XP_005270470.1:n.-410C>G
XM_011540569.3:c.-318C>G (TOE1)	XP_011538871.1:n.-318C>G
XM_011541503.2:c.36G>C (MUTYH)	XP_011539805.1:p.Trp12Cys
XM_011541505.2:c.-80G>C (MUTYH)	XP_011539807.1:n.-80G>C
XM_017001331.1:c.-23G>C (MUTYH)	XP_016856820.1:n.-23G>C
XM_017001332.1:c.-7+4G>C (MUTYH)	XP_016856821.1:n.-7+4G>C
XM_017001335.1:c.-235G>C (MUTYH)	XP_016856824.1:n.-235G>C
XM_017001336.1:c.-311G>C (MUTYH)	XP_016856825.1:n.-311G>C
XM_024447244.1:c.-320G>C (MUTYH)	XP_024303012.1:n.-320G>C
XM_024447248.1:c.-278G>C (MUTYH)	XP_024303016.1:n.-278G>C
XM_024447249.1:c.-774+4G>C (MUTYH)	XP_024303017.1:n.-774+4G>C
XM_024447250.1:c.-793G>C (MUTYH)	XP_024303018.1:n.-793G>C
XM_024452837.1:c.-410C>G (TOE1)	XP_024308605.1:n.-410C>G
XR_001736951.2:n.154C>G (TOE1)
XR_001737190.1:n.103G>C (MUTYH)
XR_002956643.1:n.211G>C (MUTYH)
XR_002956644.1:n.229G>C (MUTYH)
XR_002959287.1:n.469C>G (TOE1)
XR_246230.4:n.154C>G (TOE1)
XR_426587.4:n.46C>G (TOE1)
XR_946532.3:n.46C>G (TOE1)
XR_946658.2:n.97G>C (MUTYH)
NM_025077.4:c.-34C>G (TOE1) MANE Select	NP_079353.3:n.-34C>G
NM_001048171.2:c.-7G>C (MUTYH)	NP_001041636.2:n.-7G>C
NM_001128425.2:c.36G>C (MUTYH) MANE Plus Clinical	NP_001121897.1:p.Trp12Cys
NM_001293190.2:c.36G>C (MUTYH)	NP_001280119.1:p.Trp12Cys
NM_001293192.2:c.-219G>C (MUTYH)	NP_001280121.1:n.-219G>C
NM_001350650.2:c.-278G>C (MUTYH)	NP_001337579.1:n.-278G>C
NM_001350651.2:c.-214G>C (MUTYH)	NP_001337580.1:n.-214G>C
NM_012222.3:c.36G>C (MUTYH)	NP_036354.1:p.Trp12Cys
NR_146882.2:n.222G>C (MUTYH)