Canonical Allele Identifier: CA340137875

Gene: MUTYH TOE1

Linked Data

• ClinVar Variation Id: 428284
• ClinVar RCV Id: RCV001238814
• dbSNP Id: rs1114167687
• gnomAD v4: 1-45340235-C-A
• MyVariant Identifiers: chr1:g.45805907C>A (hg19) ; chr1:g.45340235C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45340235C>A , CM000663.2:g.45340235C>A	GRCh38
NC_000001.10:g.45805907C>A , CM000663.1:g.45805907C>A	GRCh37
NC_000001.9:g.45578494C>A	NCBI36
NG_008189.1:g.5236G>T , LRG_220:g.5236G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.20G>T (MUTYH)	ENSP00000410263.2:p.Arg7Leu
ENST00000529892.6:c.20G>T (MUTYH)	ENSP00000432528.2:p.Arg7Leu
ENST00000710952.2:c.20G>T (MUTYH) MANE Plus Clinical	ENSP00000518552.2:p.Arg7Leu
ENST00000672818.3:c.20G>T (MUTYH)	ENSP00000500891.1:p.Arg7Leu
ENST00000372090.6:c.-18C>A (TOE1) MANE Select	ENSP00000361162.5:n.-18C>A
ENST00000450313.6:c.20G>T (MUTYH)	ENSP00000408176.2:p.Arg7Leu
ENST00000461495.6:c.20G>T (MUTYH)	ENSP00000437166.1:p.Arg7Leu
ENST00000671898.1:c.541-5724G>T	ENSP00000499896.1:n.541-5724G>T
ENST00000672011.1:c.20G>T (MUTYH)	ENSP00000500418.1:p.Arg7Leu
ENST00000672818.2:c.20G>T (MUTYH)	ENSP00000500891.1:p.Arg7Leu
ENST00000372090.5:c.-18C>A (TOE1)	ENSP00000361162.5:n.-18C>A
ENST00000372098.7:c.20G>T (MUTYH)	ENSP00000361170.3:p.Arg7Leu
ENST00000372110.7:c.20G>T (MUTYH)	ENSP00000361182.3:p.Arg7Leu
ENST00000372115.7:c.20G>T (MUTYH)	ENSP00000361187.3:p.Arg7Leu
ENST00000412971.5:c.20G>T (MUTYH)	ENSP00000410263.1:p.Arg7Leu
ENST00000450313.5:c.20G>T (MUTYH)	ENSP00000408176.1:p.Arg7Leu
ENST00000461495.5:c.20G>T (MUTYH)	ENSP00000437166.1:p.Arg7Leu
ENST00000462387.5:n.198G>T (MUTYH)
ENST00000467940.5:c.20G>T (MUTYH)	ENSP00000436478.1:p.Arg7Leu
ENST00000471337.5:n.61C>A (TOE1)
ENST00000476789.5:n.198G>T (MUTYH)
ENST00000477731.5:n.184C>A (TOE1)
ENST00000481139.5:n.181G>T (MUTYH)
ENST00000481571.5:c.20G>T (MUTYH)	ENSP00000436597.1:p.Arg7Leu
ENST00000483642.5:n.163G>T (MUTYH)
ENST00000495703.5:n.15C>A (TOE1)
ENST00000525160.5:c.20G>T (MUTYH)	ENSP00000431568.1:p.Arg7Leu
ENST00000529984.5:c.-23G>T (MUTYH)	ENSP00000437093.1:n.-23G>T
ENST00000534453.1:n.1G>T (MUTYH)
NM_001048171.1:c.20G>T (MUTYH)	NP_001041636.1:p.Arg7Leu
NM_001128425.1:c.20G>T , LRG_220t1:c.20G>T (MUTYH)	NP_001121897.1:p.Arg7Leu
NM_001293190.1:c.20G>T (MUTYH)	NP_001280119.1:p.Arg7Leu
NM_001293192.1:c.-235G>T (MUTYH)	NP_001280121.1:n.-235G>T
NM_012222.2:c.20G>T (MUTYH)	NP_036354.1:p.Arg7Leu
NM_025077.3:c.-18C>A (TOE1)	NP_079353.3:n.-18C>A
XM_005270412.2:c.-18C>A (TOE1)	XP_005270469.1:n.-18C>A
XM_005270413.3:c.-394C>A (TOE1)	XP_005270470.1:n.-394C>A
XM_011540569.1:c.-302C>A (TOE1)	XP_011538871.1:n.-302C>A
XM_011541503.1:c.20G>T (MUTYH)	XP_011539805.1:p.Arg7Leu
XM_011541505.1:c.-96G>T (MUTYH)	XP_011539807.1:n.-96G>T
XR_246230.2:n.260C>A (TOE1)
XR_426587.2:n.62C>A (TOE1)
XR_946532.1:n.62C>A (TOE1)
XR_946658.1:n.67G>T (MUTYH)
NM_001350650.1:c.-294G>T (MUTYH)	NP_001337579.1:n.-294G>T
NM_001350651.1:c.-230G>T (MUTYH)	NP_001337580.1:n.-230G>T
NR_146882.1:n.236G>T (MUTYH)
XM_005270412.4:c.-18C>A (TOE1)	XP_005270469.1:n.-18C>A
XM_005270413.5:c.-394C>A (TOE1)	XP_005270470.1:n.-394C>A
XM_011540569.3:c.-302C>A (TOE1)	XP_011538871.1:n.-302C>A
XM_011541503.2:c.20G>T (MUTYH)	XP_011539805.1:p.Arg7Leu
XM_011541505.2:c.-96G>T (MUTYH)	XP_011539807.1:n.-96G>T
XM_017001331.1:c.-39G>T (MUTYH)	XP_016856820.1:n.-39G>T
XM_017001332.1:c.-19G>T (MUTYH)	XP_016856821.1:n.-19G>T
XM_017001335.1:c.-251G>T (MUTYH)	XP_016856824.1:n.-251G>T
XM_017001336.1:c.-327G>T (MUTYH)	XP_016856825.1:n.-327G>T
XM_024447244.1:c.-336G>T (MUTYH)	XP_024303012.1:n.-336G>T
XM_024447248.1:c.-294G>T (MUTYH)	XP_024303016.1:n.-294G>T
XM_024447249.1:c.-786G>T (MUTYH)	XP_024303017.1:n.-786G>T
XM_024447250.1:c.-809G>T (MUTYH)	XP_024303018.1:n.-809G>T
XM_024452837.1:c.-394C>A (TOE1)	XP_024308605.1:n.-394C>A
XR_001736951.2:n.170C>A (TOE1)
XR_001737190.1:n.87G>T (MUTYH)
XR_002956643.1:n.195G>T (MUTYH)
XR_002956644.1:n.213G>T (MUTYH)
XR_002959287.1:n.485C>A (TOE1)
XR_246230.4:n.170C>A (TOE1)
XR_426587.4:n.62C>A (TOE1)
XR_946532.3:n.62C>A (TOE1)
XR_946658.2:n.81G>T (MUTYH)
NM_025077.4:c.-18C>A (TOE1) MANE Select	NP_079353.3:n.-18C>A
NM_001048171.2:c.-23G>T (MUTYH)	NP_001041636.2:n.-23G>T
NM_001128425.2:c.20G>T (MUTYH) MANE Plus Clinical	NP_001121897.1:p.Arg7Leu
NM_001293190.2:c.20G>T (MUTYH)	NP_001280119.1:p.Arg7Leu
NM_001293192.2:c.-235G>T (MUTYH)	NP_001280121.1:n.-235G>T
NM_001350650.2:c.-294G>T (MUTYH)	NP_001337579.1:n.-294G>T
NM_001350651.2:c.-230G>T (MUTYH)	NP_001337580.1:n.-230G>T
NM_012222.3:c.20G>T (MUTYH)	NP_036354.1:p.Arg7Leu
NR_146882.2:n.206G>T (MUTYH)