Canonical Allele Identifier: CA340131782
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 1061628
ClinVar RCV Id: RCV001371243
dbSNP Id: rs2149089064
MyVariant Identifiers: chr1:g.45795064G>T (hg19) chr1:g.45329392G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45329392G>T , CM000663.2:g.45329392G>T GRCh38
NC_000001.10:g.45795064G>T , CM000663.1:g.45795064G>T GRCh37
NC_000001.9:g.45567651G>T NCBI36
NG_008189.1:g.16079C>A , LRG_220:g.16079C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.1096C>A ENSP00000410263.2:p.Pro366Thr
ENST00000435155.2:c.1513C>A ENSP00000403655.2:p.Pro505Thr
ENST00000467459.6:c.*342C>A ENSP00000435889.2:n.*342C>A
ENST00000483127.2:c.1498C>A ENSP00000436469.2:p.Pro500Thr
ENST00000485271.6:c.*223C>A ENSP00000431264.2:n.*223C>A
ENST00000529892.6:c.1333C>A ENSP00000432528.2:p.Pro445Thr
ENST00000533178.6:c.*809C>A ENSP00000436430.2:n.*809C>A
ENST00000672314.2:c.1480C>A ENSP00000500828.2:p.Pro494Thr
ENST00000710952.2:c.1564C>A MANE Plus Clinical ENSP00000518552.2:p.Pro522Thr
ENST00000672818.3:c.1555C>A ENSP00000500891.1:p.Pro519Thr
ENST00000456914.7:c.1480C>A MANE Select ENSP00000407590.2:p.Pro494Thr
ENST00000671898.1:c.*223C>A ENSP00000499896.1:n.*223C>A
ENST00000672011.1:c.*809C>A ENSP00000500418.1:n.*809C>A
ENST00000672818.2:c.1555C>A ENSP00000500891.1:p.Pro519Thr
ENST00000354383.10:c.1483C>A ENSP00000346354.6:p.Pro495Thr
ENST00000355498.6:c.1480C>A ENSP00000347685.2:p.Pro494Thr
ENST00000372098.7:c.1555C>A ENSP00000361170.3:p.Pro519Thr
ENST00000372104.5:c.1480C>A ENSP00000361176.1:p.Pro494Thr
ENST00000372110.7:c.1525C>A ENSP00000361182.3:p.Pro509Thr
ENST00000372115.7:c.1522C>A ENSP00000361187.3:p.Pro508Thr
ENST00000448481.5:c.1513C>A ENSP00000409718.1:p.Pro505Thr
ENST00000450313.5:c.1564C>A ENSP00000408176.1:p.Pro522Thr
ENST00000456914.6:c.1480C>A ENSP00000407590.2:p.Pro494Thr
ENST00000467459.5:c.897C>A ENSP00000435889.1:n.897C>A
ENST00000475516.5:c.*1293C>A ENSP00000433843.1:n.*1293C>A
ENST00000481571.5:c.*1293C>A ENSP00000436597.1:n.*1293C>A
ENST00000482094.5:n.801C>A
ENST00000485271.5:c.357C>A
ENST00000488731.6:c.565C>A ENSP00000432330.1:p.Pro189Thr
ENST00000528013.6:c.1522C>A ENSP00000433130.2:p.Pro508Thr
ENST00000529892.5:c.555C>A
ENST00000529984.5:c.565C>A ENSP00000437093.1:p.Pro189Thr
ENST00000531105.5:c.161C>A ENSP00000431292.1:p.Ala54Asp
ENST00000533178.5:c.1109C>A ENSP00000436430.1:n.1109C>A
NM_001048171.1:c.1522C>A NP_001041636.1:p.Pro508Thr
NM_001048172.1:c.1483C>A NP_001041637.1:p.Pro495Thr
NM_001048173.1:c.1480C>A NP_001041638.1:p.Pro494Thr
NM_001048174.1:c.1480C>A NP_001041639.1:p.Pro494Thr
NM_001128425.1:c.1564C>A , LRG_220t1:c.1564C>A NP_001121897.1:p.Pro522Thr
NM_001293190.1:c.1525C>A NP_001280119.1:p.Pro509Thr
NM_001293191.1:c.1513C>A NP_001280120.1:p.Pro505Thr
NM_001293192.1:c.1204C>A NP_001280121.1:p.Pro402Thr
NM_001293195.1:c.1480C>A NP_001280124.1:p.Pro494Thr
NM_001293196.1:c.1204C>A NP_001280125.1:p.Pro402Thr
NM_012222.2:c.1555C>A NP_036354.1:p.Pro519Thr
XM_011541497.1:c.1540C>A XP_011539799.1:p.Pro514Thr
XM_011541498.1:c.1522C>A XP_011539800.1:p.Pro508Thr
XM_011541499.1:c.1522C>A XP_011539801.1:p.Pro508Thr
XM_011541500.1:c.1522C>A XP_011539802.1:p.Pro508Thr
XM_011541501.1:c.1522C>A XP_011539803.1:p.Pro508Thr
XM_011541502.1:c.1522C>A XP_011539804.1:p.Pro508Thr
XM_011541503.1:c.1522C>A XP_011539805.1:p.Pro508Thr
XM_011541504.1:c.1513C>A XP_011539806.1:p.Pro505Thr
XM_011541505.1:c.1102C>A XP_011539807.1:p.Pro368Thr
XM_011541506.1:c.1102C>A XP_011539808.1:p.Pro368Thr
XM_011541507.1:c.1093C>A XP_011539809.1:p.Pro365Thr
XM_011541508.1:c.1108C>A XP_011539810.1:p.Pro370Thr
XR_946658.1:n.1791C>A
NM_001350650.1:c.1135C>A NP_001337579.1:p.Pro379Thr
NM_001350651.1:c.1135C>A NP_001337580.1:p.Pro379Thr
NR_146882.1:n.1918C>A
NR_146883.1:n.1732C>A
XM_011541497.3:c.1540C>A XP_011539799.1:p.Pro514Thr
XM_011541500.3:c.1522C>A XP_011539802.1:p.Pro508Thr
XM_011541501.2:c.1522C>A XP_011539803.1:p.Pro508Thr
XM_011541502.2:c.1522C>A XP_011539804.1:p.Pro508Thr
XM_011541503.2:c.1522C>A XP_011539805.1:p.Pro508Thr
XM_011541504.2:c.1513C>A XP_011539806.1:p.Pro505Thr
XM_011541505.2:c.1102C>A XP_011539807.1:p.Pro368Thr
XM_011541506.2:c.1102C>A XP_011539808.1:p.Pro368Thr
XM_017001331.1:c.1522C>A XP_016856820.1:p.Pro508Thr
XM_017001332.1:c.1522C>A XP_016856821.1:p.Pro508Thr
XM_017001333.1:c.1522C>A XP_016856822.1:p.Pro508Thr
XM_017001334.1:c.1483C>A XP_016856823.1:p.Pro495Thr
XM_017001335.1:c.1204C>A XP_016856824.1:p.Pro402Thr
XM_017001336.1:c.1135C>A XP_016856825.1:p.Pro379Thr
XM_017001337.1:c.1135C>A XP_016856826.1:p.Pro379Thr
XM_024447244.1:c.1135C>A XP_024303012.1:p.Pro379Thr
XM_024447245.1:c.1135C>A XP_024303013.1:p.Pro379Thr
XM_024447248.1:c.1093C>A XP_024303016.1:p.Pro365Thr
XM_024447249.1:c.964C>A XP_024303017.1:p.Pro322Thr
XM_024447250.1:c.964C>A XP_024303018.1:p.Pro322Thr
XM_024447251.1:c.964C>A XP_024303019.1:p.Pro322Thr
XR_001737190.1:n.1705C>A
XR_001737192.1:n.1517C>A
XR_002956643.1:n.1697C>A
XR_002956644.1:n.2232C>A
XR_946658.2:n.1805C>A
NM_001048171.2:c.1480C>A NP_001041636.2:p.Pro494Thr
NM_001128425.2:c.1564C>A MANE Plus Clinical NP_001121897.1:p.Pro522Thr
NM_001048172.2:c.1483C>A NP_001041637.1:p.Pro495Thr
NM_001048173.2:c.1480C>A NP_001041638.1:p.Pro494Thr
NM_001048174.2:c.1480C>A MANE Select NP_001041639.1:p.Pro494Thr
NM_001293190.2:c.1525C>A NP_001280119.1:p.Pro509Thr
NM_001293191.2:c.1513C>A NP_001280120.1:p.Pro505Thr
NM_001293192.2:c.1204C>A NP_001280121.1:p.Pro402Thr
NM_001293195.2:c.1480C>A NP_001280124.1:p.Pro494Thr
NM_001293196.2:c.1204C>A NP_001280125.1:p.Pro402Thr
NM_001350650.2:c.1135C>A NP_001337579.1:p.Pro379Thr
NM_001350651.2:c.1135C>A NP_001337580.1:p.Pro379Thr
NM_012222.3:c.1555C>A NP_036354.1:p.Pro519Thr
NR_146882.2:n.1888C>A
NR_146883.2:n.1737C>A
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