Canonical Allele Identifier: CA012704
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 142894
ClinVar RCV Id: RCV000132362
dbSNP Id: rs587782803

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331250G>C , CM000663.2:g.45331250G>C GRCh38
NC_000001.10:g.45796922G>C , CM000663.1:g.45796922G>C GRCh37
NC_000001.9:g.45569509G>C NCBI36
NG_008189.1:g.14221C>G , LRG_220:g.14221C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000672818.3:c.1399C>G ENSP00000500891.1:p.Pro467Ala
ENST00000456914.7:c.1324C>G MANE Select ENSP00000407590.2:p.Pro442Ala
ENST00000671898.1:c.1912C>G ENSP00000499896.1:p.Pro638Ala
ENST00000672011.1:c.*653C>G ENSP00000500418.1:n.*653C>G
ENST00000672314.1:c.1324C>G ENSP00000500828.1:p.Pro442Ala
ENST00000672818.2:c.1399C>G ENSP00000500891.1:p.Pro467Ala
ENST00000673134.1:c.*1021C>G ENSP00000500526.1:n.*1021C>G
ENST00000354383.10:c.1327C>G ENSP00000346354.6:p.Pro443Ala
ENST00000355498.6:c.1324C>G ENSP00000347685.2:p.Pro442Ala
ENST00000372098.7:c.1399C>G ENSP00000361170.3:p.Pro467Ala
ENST00000372104.5:c.1324C>G ENSP00000361176.1:p.Pro442Ala
ENST00000372110.7:c.1369C>G ENSP00000361182.3:p.Pro457Ala
ENST00000372115.7:c.1366C>G ENSP00000361187.3:p.Pro456Ala
ENST00000448481.5:c.1357C>G ENSP00000409718.1:p.Pro453Ala
ENST00000450313.5:c.1408C>G ENSP00000408176.1:p.Pro470Ala
ENST00000456914.6:c.1324C>G ENSP00000407590.2:p.Pro442Ala
ENST00000467459.5:n.741C>G ENSP00000435889.1:n.741C>G
ENST00000475516.5:c.*1137C>G ENSP00000433843.1:n.*1137C>G
ENST00000481571.5:c.*1137C>G ENSP00000436597.1:n.*1137C>G
ENST00000482094.5:n.645C>G
ENST00000485271.5:n.21C>G
ENST00000488731.6:c.409C>G ENSP00000432330.1:p.Pro137Ala
ENST00000528013.6:c.1366C>G ENSP00000433130.2:p.Pro456Ala
ENST00000529892.5:n.399C>G
ENST00000529984.5:c.409C>G ENSP00000437093.1:p.Pro137Ala
ENST00000531105.5:c.116-1813C>G ENSP00000431292.1:n.116-1813C>G
ENST00000533178.5:n.953C>G ENSP00000436430.1:n.953C>G
NM_001048171.1:c.1366C>G NP_001041636.1:p.Pro456Ala
NM_001048172.1:c.1327C>G NP_001041637.1:p.Pro443Ala
NM_001048173.1:c.1324C>G NP_001041638.1:p.Pro442Ala
NM_001048174.1:c.1324C>G NP_001041639.1:p.Pro442Ala
NM_001128425.1:c.1408C>G , LRG_220t1:c.1408C>G NP_001121897.1:p.Pro470Ala
NM_001293190.1:c.1369C>G NP_001280119.1:p.Pro457Ala
NM_001293191.1:c.1357C>G NP_001280120.1:p.Pro453Ala
NM_001293192.1:c.1048C>G NP_001280121.1:p.Pro350Ala
NM_001293195.1:c.1324C>G NP_001280124.1:p.Pro442Ala
NM_001293196.1:c.1048C>G NP_001280125.1:p.Pro350Ala
NM_012222.2:c.1399C>G NP_036354.1:p.Pro467Ala
XM_011541497.1:c.1384C>G XP_011539799.1:p.Pro462Ala
XM_011541498.1:c.1366C>G XP_011539800.1:p.Pro456Ala
XM_011541499.1:c.1366C>G XP_011539801.1:p.Pro456Ala
XM_011541500.1:c.1366C>G XP_011539802.1:p.Pro456Ala
XM_011541501.1:c.1366C>G XP_011539803.1:p.Pro456Ala
XM_011541502.1:c.1366C>G XP_011539804.1:p.Pro456Ala
XM_011541503.1:c.1366C>G XP_011539805.1:p.Pro456Ala
XM_011541504.1:c.1357C>G XP_011539806.1:p.Pro453Ala
XM_011541505.1:c.946C>G XP_011539807.1:p.Pro316Ala
XM_011541506.1:c.946C>G XP_011539808.1:p.Pro316Ala
XM_011541507.1:c.937C>G XP_011539809.1:p.Pro313Ala
XM_011541508.1:c.952C>G XP_011539810.1:p.Pro318Ala
XR_946658.1:n.1455C>G
NM_001350650.1:c.979C>G NP_001337579.1:p.Pro327Ala
NM_001350651.1:c.979C>G NP_001337580.1:p.Pro327Ala
NR_146882.1:n.1582C>G
NR_146883.1:n.1396C>G
XM_011541497.3:c.1384C>G XP_011539799.1:p.Pro462Ala
XM_011541500.3:c.1366C>G XP_011539802.1:p.Pro456Ala
XM_011541501.2:c.1366C>G XP_011539803.1:p.Pro456Ala
XM_011541502.2:c.1366C>G XP_011539804.1:p.Pro456Ala
XM_011541503.2:c.1366C>G XP_011539805.1:p.Pro456Ala
XM_011541504.2:c.1357C>G XP_011539806.1:p.Pro453Ala
XM_011541505.2:c.946C>G XP_011539807.1:p.Pro316Ala
XM_011541506.2:c.946C>G XP_011539808.1:p.Pro316Ala
XM_017001331.1:c.1366C>G XP_016856820.1:p.Pro456Ala
XM_017001332.1:c.1366C>G XP_016856821.1:p.Pro456Ala
XM_017001333.1:c.1366C>G XP_016856822.1:p.Pro456Ala
XM_017001334.1:c.1327C>G XP_016856823.1:p.Pro443Ala
XM_017001335.1:c.1048C>G XP_016856824.1:p.Pro350Ala
XM_017001336.1:c.979C>G XP_016856825.1:p.Pro327Ala
XM_017001337.1:c.979C>G XP_016856826.1:p.Pro327Ala
XM_024447244.1:c.979C>G XP_024303012.1:p.Pro327Ala
XM_024447245.1:c.979C>G XP_024303013.1:p.Pro327Ala
XM_024447248.1:c.937C>G XP_024303016.1:p.Pro313Ala
XM_024447249.1:c.808C>G XP_024303017.1:p.Pro270Ala
XM_024447250.1:c.808C>G XP_024303018.1:p.Pro270Ala
XM_024447251.1:c.808C>G XP_024303019.1:p.Pro270Ala
XR_001737190.1:n.1369C>G
XR_001737192.1:n.1181C>G
XR_002956643.1:n.1361C>G
XR_002956644.1:n.1896C>G
XR_946658.2:n.1469C>G
NM_001048171.2:c.1324C>G NP_001041636.2:p.Pro442Ala
NM_001128425.2:c.1408C>G NP_001121897.1:p.Pro470Ala
NM_001048172.2:c.1327C>G NP_001041637.1:p.Pro443Ala
NM_001048173.2:c.1324C>G NP_001041638.1:p.Pro442Ala
NM_001048174.2:c.1324C>G MANE Select NP_001041639.1:p.Pro442Ala
NM_001293190.2:c.1369C>G NP_001280119.1:p.Pro457Ala
NM_001293191.2:c.1357C>G NP_001280120.1:p.Pro453Ala
NM_001293192.2:c.1048C>G NP_001280121.1:p.Pro350Ala
NM_001293195.2:c.1324C>G NP_001280124.1:p.Pro442Ala
NM_001293196.2:c.1048C>G NP_001280125.1:p.Pro350Ala
NM_001350650.2:c.979C>G NP_001337579.1:p.Pro327Ala
NM_001350651.2:c.979C>G NP_001337580.1:p.Pro327Ala
NM_012222.3:c.1399C>G NP_036354.1:p.Pro467Ala
NR_146882.2:n.1552C>G
NR_146883.2:n.1401C>G