Canonical Allele Identifier: CA417880013

Gene: MUTYH

Linked Data

• MyVariant Identifiers: chr1:g.45798264G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332592G>C , CM000663.2:g.45332592G>C	GRCh38
NC_000001.10:g.45798264G>C , CM000663.1:g.45798264G>C	GRCh37
NC_000001.9:g.45570851G>C	NCBI36
NG_008189.1:g.12879C>G , LRG_220:g.12879C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.204C>G	ENSP00000410263.2:p.Ala68=
ENST00000435155.2:c.621C>G	ENSP00000403655.2:p.Ala207=
ENST00000467459.6:c.588C>G	ENSP00000435889.2:p.Ala196=
ENST00000483127.2:c.606C>G	ENSP00000436469.2:p.Ala202=
ENST00000485271.6:c.588C>G	ENSP00000431264.2:p.Ala196=
ENST00000529892.6:c.630C>G	ENSP00000432528.2:p.Ala210=
ENST00000533178.6:c.211C>G	ENSP00000436430.2:p.Leu71Val
ENST00000672314.2:c.588C>G	ENSP00000500828.2:p.Ala196=
ENST00000674679.2:c.*500C>G	ENSP00000501623.2:n.*500C>G
ENST00000710952.2:c.672C>G MANE Plus Clinical	ENSP00000518552.2:p.Ala224=
ENST00000672818.3:c.663C>G	ENSP00000500891.1:p.Ala221=
ENST00000450313.6:c.598C>G	ENSP00000408176.2:p.Leu200Val
ENST00000456914.7:c.588C>G MANE Select	ENSP00000407590.2:p.Ala196=
ENST00000461495.6:c.*327C>G	ENSP00000437166.1:n.*327C>G
ENST00000671898.1:c.1176C>G	ENSP00000499896.1:p.Ala392=
ENST00000672011.1:c.556C>G	ENSP00000500418.1:p.Leu186Val
ENST00000672314.1:c.588C>G	ENSP00000500828.1:p.Ala196=
ENST00000672593.1:c.*476C>G	ENSP00000500455.1:n.*476C>G
ENST00000672764.1:c.547C>G	ENSP00000500886.1:p.Leu183Val
ENST00000672818.2:c.663C>G	ENSP00000500891.1:p.Ala221=
ENST00000673134.1:c.*285C>G	ENSP00000500526.1:n.*285C>G
ENST00000674679.1:c.616C>G	ENSP00000501623.1:n.616C>G
ENST00000354383.10:c.591C>G	ENSP00000346354.6:p.Ala197=
ENST00000355498.6:c.588C>G	ENSP00000347685.2:p.Ala196=
ENST00000372098.7:c.663C>G	ENSP00000361170.3:p.Ala221=
ENST00000372104.5:c.588C>G	ENSP00000361176.1:p.Ala196=
ENST00000372110.7:c.633C>G	ENSP00000361182.3:p.Ala211=
ENST00000372115.7:c.630C>G	ENSP00000361187.3:p.Ala210=
ENST00000412971.5:c.204C>G	ENSP00000410263.1:p.Ala68=
ENST00000435155.1:c.621C>G	ENSP00000403655.1:p.Ala207=
ENST00000448481.5:c.621C>G	ENSP00000409718.1:p.Ala207=
ENST00000450313.5:c.672C>G	ENSP00000408176.1:p.Ala224=
ENST00000456914.6:c.588C>G	ENSP00000407590.2:p.Ala196=
ENST00000461495.5:c.*327C>G	ENSP00000437166.1:n.*327C>G
ENST00000462388.5:n.279C>G
ENST00000467940.5:c.*511C>G	ENSP00000436478.1:n.*511C>G
ENST00000470256.5:c.475C>G	ENSP00000434985.1:p.Leu159Val
ENST00000475516.5:c.*401C>G	ENSP00000433843.1:n.*401C>G
ENST00000478796.5:n.575C>G
ENST00000479746.6:n.946C>G
ENST00000481571.5:c.*401C>G	ENSP00000436597.1:n.*401C>G
ENST00000488731.6:c.187+171C>G	ENSP00000432330.1:n.187+171C>G
ENST00000492494.5:n.985C>G
ENST00000525160.5:c.*239C>G	ENSP00000431568.1:n.*239C>G
ENST00000528013.6:c.630C>G	ENSP00000433130.2:p.Ala210=
ENST00000529984.5:c.187+171C>G	ENSP00000437093.1:n.187+171C>G
ENST00000531105.5:c.115+1799C>G	ENSP00000431292.1:n.115+1799C>G
ENST00000533178.5:c.217C>G	ENSP00000436430.1:p.Leu73Val
NM_001048171.1:c.630C>G	NP_001041636.1:p.Ala210=
NM_001048172.1:c.591C>G	NP_001041637.1:p.Ala197=
NM_001048173.1:c.588C>G	NP_001041638.1:p.Ala196=
NM_001048174.1:c.588C>G	NP_001041639.1:p.Ala196=
NM_001128425.1:c.672C>G , LRG_220t1:c.672C>G	NP_001121897.1:p.Ala224=
NM_001293190.1:c.633C>G	NP_001280119.1:p.Ala211=
NM_001293191.1:c.621C>G	NP_001280120.1:p.Ala207=
NM_001293192.1:c.312C>G	NP_001280121.1:p.Ala104=
NM_001293195.1:c.588C>G	NP_001280124.1:p.Ala196=
NM_001293196.1:c.312C>G	NP_001280125.1:p.Ala104=
NM_012222.2:c.663C>G	NP_036354.1:p.Ala221=
XM_011541497.1:c.648C>G	XP_011539799.1:p.Ala216=
XM_011541498.1:c.630C>G	XP_011539800.1:p.Ala210=
XM_011541499.1:c.630C>G	XP_011539801.1:p.Ala210=
XM_011541500.1:c.630C>G	XP_011539802.1:p.Ala210=
XM_011541501.1:c.630C>G	XP_011539803.1:p.Ala210=
XM_011541502.1:c.630C>G	XP_011539804.1:p.Ala210=
XM_011541503.1:c.630C>G	XP_011539805.1:p.Ala210=
XM_011541504.1:c.621C>G	XP_011539806.1:p.Ala207=
XM_011541505.1:c.210C>G	XP_011539807.1:p.Ala70=
XM_011541506.1:c.210C>G	XP_011539808.1:p.Ala70=
XM_011541507.1:c.201C>G	XP_011539809.1:p.Ala67=
XM_011541508.1:c.216C>G	XP_011539810.1:p.Ala72=
XR_946658.1:n.719C>G
NM_001350650.1:c.243C>G	NP_001337579.1:p.Ala81=
NM_001350651.1:c.243C>G	NP_001337580.1:p.Ala81=
NR_146882.1:n.846C>G
NR_146883.1:n.660C>G
XM_011541497.3:c.648C>G	XP_011539799.1:p.Ala216=
XM_011541500.3:c.630C>G	XP_011539802.1:p.Ala210=
XM_011541501.2:c.630C>G	XP_011539803.1:p.Ala210=
XM_011541502.2:c.630C>G	XP_011539804.1:p.Ala210=
XM_011541503.2:c.630C>G	XP_011539805.1:p.Ala210=
XM_011541504.2:c.621C>G	XP_011539806.1:p.Ala207=
XM_011541505.2:c.210C>G	XP_011539807.1:p.Ala70=
XM_011541506.2:c.210C>G	XP_011539808.1:p.Ala70=
XM_017001331.1:c.630C>G	XP_016856820.1:p.Ala210=
XM_017001332.1:c.630C>G	XP_016856821.1:p.Ala210=
XM_017001333.1:c.630C>G	XP_016856822.1:p.Ala210=
XM_017001334.1:c.591C>G	XP_016856823.1:p.Ala197=
XM_017001335.1:c.312C>G	XP_016856824.1:p.Ala104=
XM_017001336.1:c.243C>G	XP_016856825.1:p.Ala81=
XM_017001337.1:c.243C>G	XP_016856826.1:p.Ala81=
XM_024447244.1:c.243C>G	XP_024303012.1:p.Ala81=
XM_024447245.1:c.243C>G	XP_024303013.1:p.Ala81=
XM_024447248.1:c.201C>G	XP_024303016.1:p.Ala67=
XM_024447249.1:c.72C>G	XP_024303017.1:p.Ala24=
XM_024447250.1:c.72C>G	XP_024303018.1:p.Ala24=
XM_024447251.1:c.72C>G	XP_024303019.1:p.Ala24=
XR_001737190.1:n.633C>G
XR_001737192.1:n.445C>G
XR_002956643.1:n.625C>G
XR_002956644.1:n.1160C>G
XR_946658.2:n.733C>G
NM_001048171.2:c.588C>G	NP_001041636.2:p.Ala196=
NM_001128425.2:c.672C>G MANE Plus Clinical	NP_001121897.1:p.Ala224=
NM_001048172.2:c.591C>G	NP_001041637.1:p.Ala197=
NM_001048173.2:c.588C>G	NP_001041638.1:p.Ala196=
NM_001048174.2:c.588C>G MANE Select	NP_001041639.1:p.Ala196=
NM_001293190.2:c.633C>G	NP_001280119.1:p.Ala211=
NM_001293191.2:c.621C>G	NP_001280120.1:p.Ala207=
NM_001293192.2:c.312C>G	NP_001280121.1:p.Ala104=
NM_001293195.2:c.588C>G	NP_001280124.1:p.Ala196=
NM_001293196.2:c.312C>G	NP_001280125.1:p.Ala104=
NM_001350650.2:c.243C>G	NP_001337579.1:p.Ala81=
NM_001350651.2:c.243C>G	NP_001337580.1:p.Ala81=
NM_012222.3:c.663C>G	NP_036354.1:p.Ala221=
NR_146882.2:n.816C>G
NR_146883.2:n.665C>G