Canonical Allele Identifier: CA340135288

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 1755191
• ClinVar RCV Id: RCV002377943
• MyVariant Identifiers: chr1:g.45798263A>C (hg19) ; chr1:g.45332591A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332591A>C , CM000663.2:g.45332591A>C	GRCh38
NC_000001.10:g.45798263A>C , CM000663.1:g.45798263A>C	GRCh37
NC_000001.9:g.45570850A>C	NCBI36
NG_008189.1:g.12880T>G , LRG_220:g.12880T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.205T>G	ENSP00000410263.2:p.Ser69Ala
ENST00000435155.2:c.622T>G	ENSP00000403655.2:p.Ser208Ala
ENST00000467459.6:c.589T>G	ENSP00000435889.2:p.Ser197Ala
ENST00000483127.2:c.607T>G	ENSP00000436469.2:p.Ser203Ala
ENST00000485271.6:c.589T>G	ENSP00000431264.2:p.Ser197Ala
ENST00000529892.6:c.631T>G	ENSP00000432528.2:p.Ser211Ala
ENST00000533178.6:c.212T>G	ENSP00000436430.2:p.Leu71Arg
ENST00000672314.2:c.589T>G	ENSP00000500828.2:p.Ser197Ala
ENST00000674679.2:c.*501T>G	ENSP00000501623.2:n.*501T>G
ENST00000710952.2:c.673T>G MANE Plus Clinical	ENSP00000518552.2:p.Ser225Ala
ENST00000672818.3:c.664T>G	ENSP00000500891.1:p.Ser222Ala
ENST00000450313.6:c.599T>G	ENSP00000408176.2:p.Leu200Arg
ENST00000456914.7:c.589T>G MANE Select	ENSP00000407590.2:p.Ser197Ala
ENST00000461495.6:c.*328T>G	ENSP00000437166.1:n.*328T>G
ENST00000671898.1:c.1177T>G	ENSP00000499896.1:p.Ser393Ala
ENST00000672011.1:c.557T>G	ENSP00000500418.1:p.Leu186Arg
ENST00000672314.1:c.589T>G	ENSP00000500828.1:p.Ser197Ala
ENST00000672593.1:c.*477T>G	ENSP00000500455.1:n.*477T>G
ENST00000672764.1:c.548T>G	ENSP00000500886.1:p.Leu183Arg
ENST00000672818.2:c.664T>G	ENSP00000500891.1:p.Ser222Ala
ENST00000673134.1:c.*286T>G	ENSP00000500526.1:n.*286T>G
ENST00000674679.1:c.617T>G	ENSP00000501623.1:n.617T>G
ENST00000354383.10:c.592T>G	ENSP00000346354.6:p.Ser198Ala
ENST00000355498.6:c.589T>G	ENSP00000347685.2:p.Ser197Ala
ENST00000372098.7:c.664T>G	ENSP00000361170.3:p.Ser222Ala
ENST00000372104.5:c.589T>G	ENSP00000361176.1:p.Ser197Ala
ENST00000372110.7:c.634T>G	ENSP00000361182.3:p.Ser212Ala
ENST00000372115.7:c.631T>G	ENSP00000361187.3:p.Ser211Ala
ENST00000412971.5:c.205T>G	ENSP00000410263.1:p.Ser69Ala
ENST00000435155.1:c.622T>G	ENSP00000403655.1:p.Ser208Ala
ENST00000448481.5:c.622T>G	ENSP00000409718.1:p.Ser208Ala
ENST00000450313.5:c.673T>G	ENSP00000408176.1:p.Ser225Ala
ENST00000456914.6:c.589T>G	ENSP00000407590.2:p.Ser197Ala
ENST00000461495.5:c.*328T>G	ENSP00000437166.1:n.*328T>G
ENST00000462388.5:n.280T>G
ENST00000467940.5:c.*512T>G	ENSP00000436478.1:n.*512T>G
ENST00000470256.5:c.476T>G	ENSP00000434985.1:p.Leu159Arg
ENST00000475516.5:c.*402T>G	ENSP00000433843.1:n.*402T>G
ENST00000478796.5:n.576T>G
ENST00000479746.6:n.947T>G
ENST00000481571.5:c.*402T>G	ENSP00000436597.1:n.*402T>G
ENST00000488731.6:c.187+172T>G	ENSP00000432330.1:n.187+172T>G
ENST00000492494.5:n.986T>G
ENST00000525160.5:c.*240T>G	ENSP00000431568.1:n.*240T>G
ENST00000528013.6:c.631T>G	ENSP00000433130.2:p.Ser211Ala
ENST00000529984.5:c.187+172T>G	ENSP00000437093.1:n.187+172T>G
ENST00000531105.5:c.115+1800T>G	ENSP00000431292.1:n.115+1800T>G
ENST00000533178.5:c.218T>G	ENSP00000436430.1:p.Leu73Arg
NM_001048171.1:c.631T>G	NP_001041636.1:p.Ser211Ala
NM_001048172.1:c.592T>G	NP_001041637.1:p.Ser198Ala
NM_001048173.1:c.589T>G	NP_001041638.1:p.Ser197Ala
NM_001048174.1:c.589T>G	NP_001041639.1:p.Ser197Ala
NM_001128425.1:c.673T>G , LRG_220t1:c.673T>G	NP_001121897.1:p.Ser225Ala
NM_001293190.1:c.634T>G	NP_001280119.1:p.Ser212Ala
NM_001293191.1:c.622T>G	NP_001280120.1:p.Ser208Ala
NM_001293192.1:c.313T>G	NP_001280121.1:p.Ser105Ala
NM_001293195.1:c.589T>G	NP_001280124.1:p.Ser197Ala
NM_001293196.1:c.313T>G	NP_001280125.1:p.Ser105Ala
NM_012222.2:c.664T>G	NP_036354.1:p.Ser222Ala
XM_011541497.1:c.649T>G	XP_011539799.1:p.Ser217Ala
XM_011541498.1:c.631T>G	XP_011539800.1:p.Ser211Ala
XM_011541499.1:c.631T>G	XP_011539801.1:p.Ser211Ala
XM_011541500.1:c.631T>G	XP_011539802.1:p.Ser211Ala
XM_011541501.1:c.631T>G	XP_011539803.1:p.Ser211Ala
XM_011541502.1:c.631T>G	XP_011539804.1:p.Ser211Ala
XM_011541503.1:c.631T>G	XP_011539805.1:p.Ser211Ala
XM_011541504.1:c.622T>G	XP_011539806.1:p.Ser208Ala
XM_011541505.1:c.211T>G	XP_011539807.1:p.Ser71Ala
XM_011541506.1:c.211T>G	XP_011539808.1:p.Ser71Ala
XM_011541507.1:c.202T>G	XP_011539809.1:p.Ser68Ala
XM_011541508.1:c.217T>G	XP_011539810.1:p.Ser73Ala
XR_946658.1:n.720T>G
NM_001350650.1:c.244T>G	NP_001337579.1:p.Ser82Ala
NM_001350651.1:c.244T>G	NP_001337580.1:p.Ser82Ala
NR_146882.1:n.847T>G
NR_146883.1:n.661T>G
XM_011541497.3:c.649T>G	XP_011539799.1:p.Ser217Ala
XM_011541500.3:c.631T>G	XP_011539802.1:p.Ser211Ala
XM_011541501.2:c.631T>G	XP_011539803.1:p.Ser211Ala
XM_011541502.2:c.631T>G	XP_011539804.1:p.Ser211Ala
XM_011541503.2:c.631T>G	XP_011539805.1:p.Ser211Ala
XM_011541504.2:c.622T>G	XP_011539806.1:p.Ser208Ala
XM_011541505.2:c.211T>G	XP_011539807.1:p.Ser71Ala
XM_011541506.2:c.211T>G	XP_011539808.1:p.Ser71Ala
XM_017001331.1:c.631T>G	XP_016856820.1:p.Ser211Ala
XM_017001332.1:c.631T>G	XP_016856821.1:p.Ser211Ala
XM_017001333.1:c.631T>G	XP_016856822.1:p.Ser211Ala
XM_017001334.1:c.592T>G	XP_016856823.1:p.Ser198Ala
XM_017001335.1:c.313T>G	XP_016856824.1:p.Ser105Ala
XM_017001336.1:c.244T>G	XP_016856825.1:p.Ser82Ala
XM_017001337.1:c.244T>G	XP_016856826.1:p.Ser82Ala
XM_024447244.1:c.244T>G	XP_024303012.1:p.Ser82Ala
XM_024447245.1:c.244T>G	XP_024303013.1:p.Ser82Ala
XM_024447248.1:c.202T>G	XP_024303016.1:p.Ser68Ala
XM_024447249.1:c.73T>G	XP_024303017.1:p.Ser25Ala
XM_024447250.1:c.73T>G	XP_024303018.1:p.Ser25Ala
XM_024447251.1:c.73T>G	XP_024303019.1:p.Ser25Ala
XR_001737190.1:n.634T>G
XR_001737192.1:n.446T>G
XR_002956643.1:n.626T>G
XR_002956644.1:n.1161T>G
XR_946658.2:n.734T>G
NM_001048171.2:c.589T>G	NP_001041636.2:p.Ser197Ala
NM_001128425.2:c.673T>G MANE Plus Clinical	NP_001121897.1:p.Ser225Ala
NM_001048172.2:c.592T>G	NP_001041637.1:p.Ser198Ala
NM_001048173.2:c.589T>G	NP_001041638.1:p.Ser197Ala
NM_001048174.2:c.589T>G MANE Select	NP_001041639.1:p.Ser197Ala
NM_001293190.2:c.634T>G	NP_001280119.1:p.Ser212Ala
NM_001293191.2:c.622T>G	NP_001280120.1:p.Ser208Ala
NM_001293192.2:c.313T>G	NP_001280121.1:p.Ser105Ala
NM_001293195.2:c.589T>G	NP_001280124.1:p.Ser197Ala
NM_001293196.2:c.313T>G	NP_001280125.1:p.Ser105Ala
NM_001350650.2:c.244T>G	NP_001337579.1:p.Ser82Ala
NM_001350651.2:c.244T>G	NP_001337580.1:p.Ser82Ala
NM_012222.3:c.664T>G	NP_036354.1:p.Ser222Ala
NR_146882.2:n.817T>G
NR_146883.2:n.666T>G