Canonical Allele Identifier: CA340134746

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 862299
• ClinVar RCV Id: RCV001068994
• dbSNP Id: rs1570406302
• MyVariant Identifiers: chr1:g.45798063C>G (hg19) ; chr1:g.45332391C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332391C>G , CM000663.2:g.45332391C>G	GRCh38
NC_000001.10:g.45798063C>G , CM000663.1:g.45798063C>G	GRCh37
NC_000001.9:g.45570650C>G	NCBI36
NG_008189.1:g.13080G>C , LRG_220:g.13080G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.320G>C	ENSP00000410263.2:p.Trp107Ser
ENST00000435155.2:c.737G>C	ENSP00000403655.2:p.Trp246Ser
ENST00000467459.6:c.704G>C	ENSP00000435889.2:p.Trp235Ser
ENST00000483127.2:c.722G>C	ENSP00000436469.2:p.Trp241Ser
ENST00000485271.6:c.704G>C	ENSP00000431264.2:p.Trp235Ser
ENST00000529892.6:c.746G>C	ENSP00000432528.2:p.Trp249Ser
ENST00000533178.6:c.*33G>C	ENSP00000436430.2:n.*33G>C
ENST00000672314.2:c.704G>C	ENSP00000500828.2:p.Trp235Ser
ENST00000674679.2:c.*616G>C	ENSP00000501623.2:n.*616G>C
ENST00000710952.2:c.788G>C MANE Plus Clinical	ENSP00000518552.2:p.Trp263Ser
ENST00000672818.3:c.779G>C	ENSP00000500891.1:p.Trp260Ser
ENST00000450313.6:c.*33G>C	ENSP00000408176.2:n.*33G>C
ENST00000456914.7:c.704G>C MANE Select	ENSP00000407590.2:p.Trp235Ser
ENST00000461495.6:c.*443G>C	ENSP00000437166.1:n.*443G>C
ENST00000671898.1:c.1292G>C	ENSP00000499896.1:p.Trp431Ser
ENST00000672011.1:c.*33G>C	ENSP00000500418.1:n.*33G>C
ENST00000672314.1:c.704G>C	ENSP00000500828.1:p.Trp235Ser
ENST00000672593.1:c.*677G>C	ENSP00000500455.1:n.*677G>C
ENST00000672764.1:c.*33G>C	ENSP00000500886.1:n.*33G>C
ENST00000672818.2:c.779G>C	ENSP00000500891.1:p.Trp260Ser
ENST00000673134.1:c.*401G>C	ENSP00000500526.1:n.*401G>C
ENST00000674679.1:c.732G>C	ENSP00000501623.1:n.732G>C
ENST00000354383.10:c.707G>C	ENSP00000346354.6:p.Trp236Ser
ENST00000355498.6:c.704G>C	ENSP00000347685.2:p.Trp235Ser
ENST00000372098.7:c.779G>C	ENSP00000361170.3:p.Trp260Ser
ENST00000372104.5:c.704G>C	ENSP00000361176.1:p.Trp235Ser
ENST00000372110.7:c.749G>C	ENSP00000361182.3:p.Trp250Ser
ENST00000372115.7:c.746G>C	ENSP00000361187.3:p.Trp249Ser
ENST00000412971.5:c.320G>C	ENSP00000410263.1:p.Trp107Ser
ENST00000435155.1:c.737G>C	ENSP00000403655.1:p.Trp246Ser
ENST00000448481.5:c.737G>C	ENSP00000409718.1:p.Trp246Ser
ENST00000450313.5:c.788G>C	ENSP00000408176.1:p.Trp263Ser
ENST00000456914.6:c.704G>C	ENSP00000407590.2:p.Trp235Ser
ENST00000461495.5:c.*443G>C	ENSP00000437166.1:n.*443G>C
ENST00000462388.5:n.395G>C
ENST00000467459.5:c.98G>C	ENSP00000435889.1:p.Trp33Ser
ENST00000467940.5:c.*627G>C	ENSP00000436478.1:n.*627G>C
ENST00000470256.5:c.*33G>C	ENSP00000434985.1:n.*33G>C
ENST00000475516.5:c.*517G>C	ENSP00000433843.1:n.*517G>C
ENST00000478796.5:n.691G>C
ENST00000481571.5:c.*517G>C	ENSP00000436597.1:n.*517G>C
ENST00000488731.6:c.187+372G>C	ENSP00000432330.1:n.187+372G>C
ENST00000528013.6:c.746G>C	ENSP00000433130.2:p.Trp249Ser
ENST00000529984.5:c.187+372G>C	ENSP00000437093.1:n.187+372G>C
ENST00000531105.5:c.115+2000G>C	ENSP00000431292.1:n.115+2000G>C
ENST00000533178.5:c.333G>C	ENSP00000436430.1:n.333G>C
NM_001048171.1:c.746G>C	NP_001041636.1:p.Trp249Ser
NM_001048172.1:c.707G>C	NP_001041637.1:p.Trp236Ser
NM_001048173.1:c.704G>C	NP_001041638.1:p.Trp235Ser
NM_001048174.1:c.704G>C	NP_001041639.1:p.Trp235Ser
NM_001128425.1:c.788G>C , LRG_220t1:c.788G>C	NP_001121897.1:p.Trp263Ser
NM_001293190.1:c.749G>C	NP_001280119.1:p.Trp250Ser
NM_001293191.1:c.737G>C	NP_001280120.1:p.Trp246Ser
NM_001293192.1:c.428G>C	NP_001280121.1:p.Trp143Ser
NM_001293195.1:c.704G>C	NP_001280124.1:p.Trp235Ser
NM_001293196.1:c.428G>C	NP_001280125.1:p.Trp143Ser
NM_012222.2:c.779G>C	NP_036354.1:p.Trp260Ser
XM_011541497.1:c.764G>C	XP_011539799.1:p.Trp255Ser
XM_011541498.1:c.746G>C	XP_011539800.1:p.Trp249Ser
XM_011541499.1:c.746G>C	XP_011539801.1:p.Trp249Ser
XM_011541500.1:c.746G>C	XP_011539802.1:p.Trp249Ser
XM_011541501.1:c.746G>C	XP_011539803.1:p.Trp249Ser
XM_011541502.1:c.746G>C	XP_011539804.1:p.Trp249Ser
XM_011541503.1:c.746G>C	XP_011539805.1:p.Trp249Ser
XM_011541504.1:c.737G>C	XP_011539806.1:p.Trp246Ser
XM_011541505.1:c.326G>C	XP_011539807.1:p.Trp109Ser
XM_011541506.1:c.326G>C	XP_011539808.1:p.Trp109Ser
XM_011541507.1:c.317G>C	XP_011539809.1:p.Trp106Ser
XM_011541508.1:c.332G>C	XP_011539810.1:p.Trp111Ser
XR_946658.1:n.835G>C
NM_001350650.1:c.359G>C	NP_001337579.1:p.Trp120Ser
NM_001350651.1:c.359G>C	NP_001337580.1:p.Trp120Ser
NR_146882.1:n.962G>C
NR_146883.1:n.776G>C
XM_011541497.3:c.764G>C	XP_011539799.1:p.Trp255Ser
XM_011541500.3:c.746G>C	XP_011539802.1:p.Trp249Ser
XM_011541501.2:c.746G>C	XP_011539803.1:p.Trp249Ser
XM_011541502.2:c.746G>C	XP_011539804.1:p.Trp249Ser
XM_011541503.2:c.746G>C	XP_011539805.1:p.Trp249Ser
XM_011541504.2:c.737G>C	XP_011539806.1:p.Trp246Ser
XM_011541505.2:c.326G>C	XP_011539807.1:p.Trp109Ser
XM_011541506.2:c.326G>C	XP_011539808.1:p.Trp109Ser
XM_017001331.1:c.746G>C	XP_016856820.1:p.Trp249Ser
XM_017001332.1:c.746G>C	XP_016856821.1:p.Trp249Ser
XM_017001333.1:c.746G>C	XP_016856822.1:p.Trp249Ser
XM_017001334.1:c.707G>C	XP_016856823.1:p.Trp236Ser
XM_017001335.1:c.428G>C	XP_016856824.1:p.Trp143Ser
XM_017001336.1:c.359G>C	XP_016856825.1:p.Trp120Ser
XM_017001337.1:c.359G>C	XP_016856826.1:p.Trp120Ser
XM_024447244.1:c.359G>C	XP_024303012.1:p.Trp120Ser
XM_024447245.1:c.359G>C	XP_024303013.1:p.Trp120Ser
XM_024447248.1:c.317G>C	XP_024303016.1:p.Trp106Ser
XM_024447249.1:c.188G>C	XP_024303017.1:p.Trp63Ser
XM_024447250.1:c.188G>C	XP_024303018.1:p.Trp63Ser
XM_024447251.1:c.188G>C	XP_024303019.1:p.Trp63Ser
XR_001737190.1:n.749G>C
XR_001737192.1:n.561G>C
XR_002956643.1:n.741G>C
XR_002956644.1:n.1276G>C
XR_946658.2:n.849G>C
NM_001048171.2:c.704G>C	NP_001041636.2:p.Trp235Ser
NM_001128425.2:c.788G>C MANE Plus Clinical	NP_001121897.1:p.Trp263Ser
NM_001048172.2:c.707G>C	NP_001041637.1:p.Trp236Ser
NM_001048173.2:c.704G>C	NP_001041638.1:p.Trp235Ser
NM_001048174.2:c.704G>C MANE Select	NP_001041639.1:p.Trp235Ser
NM_001293190.2:c.749G>C	NP_001280119.1:p.Trp250Ser
NM_001293191.2:c.737G>C	NP_001280120.1:p.Trp246Ser
NM_001293192.2:c.428G>C	NP_001280121.1:p.Trp143Ser
NM_001293195.2:c.704G>C	NP_001280124.1:p.Trp235Ser
NM_001293196.2:c.428G>C	NP_001280125.1:p.Trp143Ser
NM_001350650.2:c.359G>C	NP_001337579.1:p.Trp120Ser
NM_001350651.2:c.359G>C	NP_001337580.1:p.Trp120Ser
NM_012222.3:c.779G>C	NP_036354.1:p.Trp260Ser
NR_146882.2:n.932G>C
NR_146883.2:n.781G>C