Canonical Allele Identifier: CA340134009

Gene: MUTYH

Linked Data

• MyVariant Identifiers: chr1:g.45797698A>C (hg19) ; chr1:g.45332026A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332026A>C , CM000663.2:g.45332026A>C	GRCh38
NC_000001.10:g.45797698A>C , CM000663.1:g.45797698A>C	GRCh37
NC_000001.9:g.45570285A>C	NCBI36
NG_008189.1:g.13445T>G , LRG_220:g.13445T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.526T>G	ENSP00000410263.2:p.Cys176Gly
ENST00000435155.2:c.943T>G	ENSP00000403655.2:p.Cys315Gly
ENST00000467459.6:c.910T>G	ENSP00000435889.2:p.Cys304Gly
ENST00000483127.2:c.928T>G	ENSP00000436469.2:p.Cys310Gly
ENST00000485271.6:c.910T>G	ENSP00000431264.2:p.Cys304Gly
ENST00000529892.6:c.952T>G	ENSP00000432528.2:p.Cys318Gly
ENST00000533178.6:c.*239T>G	ENSP00000436430.2:n.*239T>G
ENST00000672314.2:c.910T>G	ENSP00000500828.2:p.Cys304Gly
ENST00000710952.2:c.994T>G MANE Plus Clinical	ENSP00000518552.2:p.Cys332Gly
ENST00000672818.3:c.985T>G	ENSP00000500891.1:p.Cys329Gly
ENST00000456914.7:c.910T>G MANE Select	ENSP00000407590.2:p.Cys304Gly
ENST00000671898.1:c.1498T>G	ENSP00000499896.1:p.Cys500Gly
ENST00000672011.1:c.*239T>G	ENSP00000500418.1:n.*239T>G
ENST00000672314.1:c.910T>G	ENSP00000500828.1:p.Cys304Gly
ENST00000672593.1:c.*963T>G	ENSP00000500455.1:n.*963T>G
ENST00000672764.1:c.*239T>G	ENSP00000500886.1:n.*239T>G
ENST00000672818.2:c.985T>G	ENSP00000500891.1:p.Cys329Gly
ENST00000673134.1:c.*607T>G	ENSP00000500526.1:n.*607T>G
ENST00000354383.10:c.913T>G	ENSP00000346354.6:p.Cys305Gly
ENST00000355498.6:c.910T>G	ENSP00000347685.2:p.Cys304Gly
ENST00000372098.7:c.985T>G	ENSP00000361170.3:p.Cys329Gly
ENST00000372104.5:c.910T>G	ENSP00000361176.1:p.Cys304Gly
ENST00000372110.7:c.955T>G	ENSP00000361182.3:p.Cys319Gly
ENST00000372115.7:c.952T>G	ENSP00000361187.3:p.Cys318Gly
ENST00000412971.5:c.526T>G	ENSP00000410263.1:p.Cys176Gly
ENST00000448481.5:c.943T>G	ENSP00000409718.1:p.Cys315Gly
ENST00000450313.5:c.994T>G	ENSP00000408176.1:p.Cys332Gly
ENST00000456914.6:c.910T>G	ENSP00000407590.2:p.Cys304Gly
ENST00000462388.5:n.601T>G
ENST00000466231.1:n.275T>G
ENST00000467459.5:c.304T>G	ENSP00000435889.1:p.Cys102Gly
ENST00000470256.5:c.*239T>G	ENSP00000434985.1:n.*239T>G
ENST00000475516.5:c.*723T>G	ENSP00000433843.1:n.*723T>G
ENST00000481571.5:c.*723T>G	ENSP00000436597.1:n.*723T>G
ENST00000482094.5:n.58T>G
ENST00000488731.6:c.188-470T>G	ENSP00000432330.1:n.188-470T>G
ENST00000528013.6:c.952T>G	ENSP00000433130.2:p.Cys318Gly
ENST00000529892.5:c.174T>G
ENST00000529984.5:c.188-470T>G	ENSP00000437093.1:n.188-470T>G
ENST00000531105.5:c.115+2365T>G	ENSP00000431292.1:n.115+2365T>G
ENST00000533178.5:c.539T>G	ENSP00000436430.1:n.539T>G
NM_001048171.1:c.952T>G	NP_001041636.1:p.Cys318Gly
NM_001048172.1:c.913T>G	NP_001041637.1:p.Cys305Gly
NM_001048173.1:c.910T>G	NP_001041638.1:p.Cys304Gly
NM_001048174.1:c.910T>G	NP_001041639.1:p.Cys304Gly
NM_001128425.1:c.994T>G , LRG_220t1:c.994T>G	NP_001121897.1:p.Cys332Gly
NM_001293190.1:c.955T>G	NP_001280119.1:p.Cys319Gly
NM_001293191.1:c.943T>G	NP_001280120.1:p.Cys315Gly
NM_001293192.1:c.634T>G	NP_001280121.1:p.Cys212Gly
NM_001293195.1:c.910T>G	NP_001280124.1:p.Cys304Gly
NM_001293196.1:c.634T>G	NP_001280125.1:p.Cys212Gly
NM_012222.2:c.985T>G	NP_036354.1:p.Cys329Gly
XM_011541497.1:c.970T>G	XP_011539799.1:p.Cys324Gly
XM_011541498.1:c.952T>G	XP_011539800.1:p.Cys318Gly
XM_011541499.1:c.952T>G	XP_011539801.1:p.Cys318Gly
XM_011541500.1:c.952T>G	XP_011539802.1:p.Cys318Gly
XM_011541501.1:c.952T>G	XP_011539803.1:p.Cys318Gly
XM_011541502.1:c.952T>G	XP_011539804.1:p.Cys318Gly
XM_011541503.1:c.952T>G	XP_011539805.1:p.Cys318Gly
XM_011541504.1:c.943T>G	XP_011539806.1:p.Cys315Gly
XM_011541505.1:c.532T>G	XP_011539807.1:p.Cys178Gly
XM_011541506.1:c.532T>G	XP_011539808.1:p.Cys178Gly
XM_011541507.1:c.523T>G	XP_011539809.1:p.Cys175Gly
XM_011541508.1:c.538T>G	XP_011539810.1:p.Cys180Gly
XR_946658.1:n.1041T>G
NM_001350650.1:c.565T>G	NP_001337579.1:p.Cys189Gly
NM_001350651.1:c.565T>G	NP_001337580.1:p.Cys189Gly
NR_146882.1:n.1168T>G
NR_146883.1:n.982T>G
XM_011541497.3:c.970T>G	XP_011539799.1:p.Cys324Gly
XM_011541500.3:c.952T>G	XP_011539802.1:p.Cys318Gly
XM_011541501.2:c.952T>G	XP_011539803.1:p.Cys318Gly
XM_011541502.2:c.952T>G	XP_011539804.1:p.Cys318Gly
XM_011541503.2:c.952T>G	XP_011539805.1:p.Cys318Gly
XM_011541504.2:c.943T>G	XP_011539806.1:p.Cys315Gly
XM_011541505.2:c.532T>G	XP_011539807.1:p.Cys178Gly
XM_011541506.2:c.532T>G	XP_011539808.1:p.Cys178Gly
XM_017001331.1:c.952T>G	XP_016856820.1:p.Cys318Gly
XM_017001332.1:c.952T>G	XP_016856821.1:p.Cys318Gly
XM_017001333.1:c.952T>G	XP_016856822.1:p.Cys318Gly
XM_017001334.1:c.913T>G	XP_016856823.1:p.Cys305Gly
XM_017001335.1:c.634T>G	XP_016856824.1:p.Cys212Gly
XM_017001336.1:c.565T>G	XP_016856825.1:p.Cys189Gly
XM_017001337.1:c.565T>G	XP_016856826.1:p.Cys189Gly
XM_024447244.1:c.565T>G	XP_024303012.1:p.Cys189Gly
XM_024447245.1:c.565T>G	XP_024303013.1:p.Cys189Gly
XM_024447248.1:c.523T>G	XP_024303016.1:p.Cys175Gly
XM_024447249.1:c.394T>G	XP_024303017.1:p.Cys132Gly
XM_024447250.1:c.394T>G	XP_024303018.1:p.Cys132Gly
XM_024447251.1:c.394T>G	XP_024303019.1:p.Cys132Gly
XR_001737190.1:n.955T>G
XR_001737192.1:n.767T>G
XR_002956643.1:n.947T>G
XR_002956644.1:n.1482T>G
XR_946658.2:n.1055T>G
NM_001048171.2:c.910T>G	NP_001041636.2:p.Cys304Gly
NM_001128425.2:c.994T>G MANE Plus Clinical	NP_001121897.1:p.Cys332Gly
NM_001048172.2:c.913T>G	NP_001041637.1:p.Cys305Gly
NM_001048173.2:c.910T>G	NP_001041638.1:p.Cys304Gly
NM_001048174.2:c.910T>G MANE Select	NP_001041639.1:p.Cys304Gly
NM_001293190.2:c.955T>G	NP_001280119.1:p.Cys319Gly
NM_001293191.2:c.943T>G	NP_001280120.1:p.Cys315Gly
NM_001293192.2:c.634T>G	NP_001280121.1:p.Cys212Gly
NM_001293195.2:c.910T>G	NP_001280124.1:p.Cys304Gly
NM_001293196.2:c.634T>G	NP_001280125.1:p.Cys212Gly
NM_001350650.2:c.565T>G	NP_001337579.1:p.Cys189Gly
NM_001350651.2:c.565T>G	NP_001337580.1:p.Cys189Gly
NM_012222.3:c.985T>G	NP_036354.1:p.Cys329Gly
NR_146882.2:n.1138T>G
NR_146883.2:n.987T>G