Canonical Allele Identifier: CA340132607
Gene: MUTYH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.45796904G>T (hg19) chr1:g.45331232G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331232G>T , CM000663.2:g.45331232G>T GRCh38
NC_000001.10:g.45796904G>T , CM000663.1:g.45796904G>T GRCh37
NC_000001.9:g.45569491G>T NCBI36
NG_008189.1:g.14239C>A , LRG_220:g.14239C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.958C>A ENSP00000410263.2:p.Leu320Met
ENST00000435155.2:c.1375C>A ENSP00000403655.2:p.Leu459Met
ENST00000467459.6:c.*204C>A ENSP00000435889.2:n.*204C>A
ENST00000483127.2:c.1360C>A ENSP00000436469.2:p.Leu454Met
ENST00000485271.6:c.1342C>A ENSP00000431264.2:p.Leu448Met
ENST00000529892.6:c.1195C>A ENSP00000432528.2:p.Leu399Met
ENST00000533178.6:c.*671C>A ENSP00000436430.2:n.*671C>A
ENST00000672314.2:c.1342C>A ENSP00000500828.2:p.Leu448Met
ENST00000710952.2:c.1426C>A MANE Plus Clinical ENSP00000518552.2:p.Leu476Met
ENST00000672818.3:c.1417C>A ENSP00000500891.1:p.Leu473Met
ENST00000456914.7:c.1342C>A MANE Select ENSP00000407590.2:p.Leu448Met
ENST00000671898.1:c.1930C>A ENSP00000499896.1:p.Leu644Met
ENST00000672011.1:c.*671C>A ENSP00000500418.1:n.*671C>A
ENST00000672314.1:c.1342C>A ENSP00000500828.1:p.Leu448Met
ENST00000672818.2:c.1417C>A ENSP00000500891.1:p.Leu473Met
ENST00000673134.1:c.*1039C>A ENSP00000500526.1:n.*1039C>A
ENST00000354383.10:c.1345C>A ENSP00000346354.6:p.Leu449Met
ENST00000355498.6:c.1342C>A ENSP00000347685.2:p.Leu448Met
ENST00000372098.7:c.1417C>A ENSP00000361170.3:p.Leu473Met
ENST00000372104.5:c.1342C>A ENSP00000361176.1:p.Leu448Met
ENST00000372110.7:c.1387C>A ENSP00000361182.3:p.Leu463Met
ENST00000372115.7:c.1384C>A ENSP00000361187.3:p.Leu462Met
ENST00000448481.5:c.1375C>A ENSP00000409718.1:p.Leu459Met
ENST00000450313.5:c.1426C>A ENSP00000408176.1:p.Leu476Met
ENST00000456914.6:c.1342C>A ENSP00000407590.2:p.Leu448Met
ENST00000467459.5:c.759C>A ENSP00000435889.1:n.759C>A
ENST00000475516.5:c.*1155C>A ENSP00000433843.1:n.*1155C>A
ENST00000481571.5:c.*1155C>A ENSP00000436597.1:n.*1155C>A
ENST00000482094.5:n.663C>A
ENST00000485271.5:c.39C>A
ENST00000488731.6:c.427C>A ENSP00000432330.1:p.Leu143Met
ENST00000528013.6:c.1384C>A ENSP00000433130.2:p.Leu462Met
ENST00000529892.5:c.417C>A
ENST00000529984.5:c.427C>A ENSP00000437093.1:p.Leu143Met
ENST00000531105.5:c.116-1795C>A ENSP00000431292.1:n.116-1795C>A
ENST00000533178.5:c.971C>A ENSP00000436430.1:n.971C>A
NM_001048171.1:c.1384C>A NP_001041636.1:p.Leu462Met
NM_001048172.1:c.1345C>A NP_001041637.1:p.Leu449Met
NM_001048173.1:c.1342C>A NP_001041638.1:p.Leu448Met
NM_001048174.1:c.1342C>A NP_001041639.1:p.Leu448Met
NM_001128425.1:c.1426C>A , LRG_220t1:c.1426C>A NP_001121897.1:p.Leu476Met
NM_001293190.1:c.1387C>A NP_001280119.1:p.Leu463Met
NM_001293191.1:c.1375C>A NP_001280120.1:p.Leu459Met
NM_001293192.1:c.1066C>A NP_001280121.1:p.Leu356Met
NM_001293195.1:c.1342C>A NP_001280124.1:p.Leu448Met
NM_001293196.1:c.1066C>A NP_001280125.1:p.Leu356Met
NM_012222.2:c.1417C>A NP_036354.1:p.Leu473Met
XM_011541497.1:c.1402C>A XP_011539799.1:p.Leu468Met
XM_011541498.1:c.1384C>A XP_011539800.1:p.Leu462Met
XM_011541499.1:c.1384C>A XP_011539801.1:p.Leu462Met
XM_011541500.1:c.1384C>A XP_011539802.1:p.Leu462Met
XM_011541501.1:c.1384C>A XP_011539803.1:p.Leu462Met
XM_011541502.1:c.1384C>A XP_011539804.1:p.Leu462Met
XM_011541503.1:c.1384C>A XP_011539805.1:p.Leu462Met
XM_011541504.1:c.1375C>A XP_011539806.1:p.Leu459Met
XM_011541505.1:c.964C>A XP_011539807.1:p.Leu322Met
XM_011541506.1:c.964C>A XP_011539808.1:p.Leu322Met
XM_011541507.1:c.955C>A XP_011539809.1:p.Leu319Met
XM_011541508.1:c.970C>A XP_011539810.1:p.Leu324Met
XR_946658.1:n.1473C>A
NM_001350650.1:c.997C>A NP_001337579.1:p.Leu333Met
NM_001350651.1:c.997C>A NP_001337580.1:p.Leu333Met
NR_146882.1:n.1600C>A
NR_146883.1:n.1414C>A
XM_011541497.3:c.1402C>A XP_011539799.1:p.Leu468Met
XM_011541500.3:c.1384C>A XP_011539802.1:p.Leu462Met
XM_011541501.2:c.1384C>A XP_011539803.1:p.Leu462Met
XM_011541502.2:c.1384C>A XP_011539804.1:p.Leu462Met
XM_011541503.2:c.1384C>A XP_011539805.1:p.Leu462Met
XM_011541504.2:c.1375C>A XP_011539806.1:p.Leu459Met
XM_011541505.2:c.964C>A XP_011539807.1:p.Leu322Met
XM_011541506.2:c.964C>A XP_011539808.1:p.Leu322Met
XM_017001331.1:c.1384C>A XP_016856820.1:p.Leu462Met
XM_017001332.1:c.1384C>A XP_016856821.1:p.Leu462Met
XM_017001333.1:c.1384C>A XP_016856822.1:p.Leu462Met
XM_017001334.1:c.1345C>A XP_016856823.1:p.Leu449Met
XM_017001335.1:c.1066C>A XP_016856824.1:p.Leu356Met
XM_017001336.1:c.997C>A XP_016856825.1:p.Leu333Met
XM_017001337.1:c.997C>A XP_016856826.1:p.Leu333Met
XM_024447244.1:c.997C>A XP_024303012.1:p.Leu333Met
XM_024447245.1:c.997C>A XP_024303013.1:p.Leu333Met
XM_024447248.1:c.955C>A XP_024303016.1:p.Leu319Met
XM_024447249.1:c.826C>A XP_024303017.1:p.Leu276Met
XM_024447250.1:c.826C>A XP_024303018.1:p.Leu276Met
XM_024447251.1:c.826C>A XP_024303019.1:p.Leu276Met
XR_001737190.1:n.1387C>A
XR_001737192.1:n.1199C>A
XR_002956643.1:n.1379C>A
XR_002956644.1:n.1914C>A
XR_946658.2:n.1487C>A
NM_001048171.2:c.1342C>A NP_001041636.2:p.Leu448Met
NM_001128425.2:c.1426C>A MANE Plus Clinical NP_001121897.1:p.Leu476Met
NM_001048172.2:c.1345C>A NP_001041637.1:p.Leu449Met
NM_001048173.2:c.1342C>A NP_001041638.1:p.Leu448Met
NM_001048174.2:c.1342C>A MANE Select NP_001041639.1:p.Leu448Met
NM_001293190.2:c.1387C>A NP_001280119.1:p.Leu463Met
NM_001293191.2:c.1375C>A NP_001280120.1:p.Leu459Met
NM_001293192.2:c.1066C>A NP_001280121.1:p.Leu356Met
NM_001293195.2:c.1342C>A NP_001280124.1:p.Leu448Met
NM_001293196.2:c.1066C>A NP_001280125.1:p.Leu356Met
NM_001350650.2:c.997C>A NP_001337579.1:p.Leu333Met
NM_001350651.2:c.997C>A NP_001337580.1:p.Leu333Met
NM_012222.3:c.1417C>A NP_036354.1:p.Leu473Met
NR_146882.2:n.1570C>A
NR_146883.2:n.1419C>A
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