Canonical Allele Identifier: CA2473712225
Gene: MUTYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331455G= , CM000663.2:g.45331455G= GRCh38
NC_000001.10:g.45797127G= , CM000663.1:g.45797127G= GRCh37
NC_000001.9:g.45569714G= NCBI36
NG_008189.1:g.14016C= , LRG_220:g.14016C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.820C= ENSP00000410263.2:p.Pro274=
ENST00000435155.2:c.1237C= ENSP00000403655.2:p.Pro413=
ENST00000467459.6:c.*66C= ENSP00000435889.2:n.*66C=
ENST00000483127.2:c.1222C= ENSP00000436469.2:p.Pro408=
ENST00000485271.6:c.1204C= ENSP00000431264.2:p.Pro402=
ENST00000529892.6:c.1057C= ENSP00000432528.2:p.Pro353=
ENST00000533178.6:c.*533C= ENSP00000436430.2:n.*533C=
ENST00000672314.2:c.1204C= ENSP00000500828.2:p.Pro402=
ENST00000710952.2:c.1288C= MANE Plus Clinical ENSP00000518552.2:p.Pro430=
ENST00000672818.3:c.1279C= ENSP00000500891.1:p.Pro427=
ENST00000456914.7:c.1204C= MANE Select ENSP00000407590.2:p.Pro402=
ENST00000671898.1:c.1792C= ENSP00000499896.1:p.Pro598=
ENST00000672011.1:c.*533C= ENSP00000500418.1:n.*533C=
ENST00000672314.1:c.1204C= ENSP00000500828.1:p.Pro402=
ENST00000672593.1:c.*1430C= ENSP00000500455.1:n.*1430C=
ENST00000672818.2:c.1279C= ENSP00000500891.1:p.Pro427=
ENST00000673134.1:c.*901C= ENSP00000500526.1:n.*901C=
ENST00000354383.10:c.1207C= ENSP00000346354.6:p.Pro403=
ENST00000355498.6:c.1204C= ENSP00000347685.2:p.Pro402=
ENST00000372098.7:c.1279C= ENSP00000361170.3:p.Pro427=
ENST00000372104.5:c.1204C= ENSP00000361176.1:p.Pro402=
ENST00000372110.7:c.1249C= ENSP00000361182.3:p.Pro417=
ENST00000372115.7:c.1246C= ENSP00000361187.3:p.Pro416=
ENST00000448481.5:c.1237C= ENSP00000409718.1:p.Pro413=
ENST00000450313.5:c.1288C= ENSP00000408176.1:p.Pro430=
ENST00000456914.6:c.1204C= ENSP00000407590.2:p.Pro402=
ENST00000467459.5:c.621C= ENSP00000435889.1:n.621C=
ENST00000475516.5:c.*1017C= ENSP00000433843.1:n.*1017C=
ENST00000481571.5:c.*1017C= ENSP00000436597.1:n.*1017C=
ENST00000482094.5:n.525C=
ENST00000488731.6:c.289C= ENSP00000432330.1:p.Pro97=
ENST00000528013.6:c.1246C= ENSP00000433130.2:p.Pro416=
ENST00000529892.5:c.279C=
ENST00000529984.5:c.289C= ENSP00000437093.1:p.Pro97=
ENST00000531105.5:c.116-2018C= ENSP00000431292.1:n.116-2018C=
ENST00000533178.5:c.833C= ENSP00000436430.1:n.833C=
NM_001048171.1:c.1246C= NP_001041636.1:p.Pro416=
NM_001048172.1:c.1207C= NP_001041637.1:p.Pro403=
NM_001048173.1:c.1204C= NP_001041638.1:p.Pro402=
NM_001048174.1:c.1204C= NP_001041639.1:p.Pro402=
NM_001128425.1:c.1288C= , LRG_220t1:c.1288C= NP_001121897.1:p.Pro430=
NM_001293190.1:c.1249C= NP_001280119.1:p.Pro417=
NM_001293191.1:c.1237C= NP_001280120.1:p.Pro413=
NM_001293192.1:c.928C= NP_001280121.1:p.Pro310=
NM_001293195.1:c.1204C= NP_001280124.1:p.Pro402=
NM_001293196.1:c.928C= NP_001280125.1:p.Pro310=
NM_012222.2:c.1279C= NP_036354.1:p.Pro427=
XM_011541497.1:c.1264C= XP_011539799.1:p.Pro422=
XM_011541498.1:c.1246C= XP_011539800.1:p.Pro416=
XM_011541499.1:c.1246C= XP_011539801.1:p.Pro416=
XM_011541500.1:c.1246C= XP_011539802.1:p.Pro416=
XM_011541501.1:c.1246C= XP_011539803.1:p.Pro416=
XM_011541502.1:c.1246C= XP_011539804.1:p.Pro416=
XM_011541503.1:c.1246C= XP_011539805.1:p.Pro416=
XM_011541504.1:c.1237C= XP_011539806.1:p.Pro413=
XM_011541505.1:c.826C= XP_011539807.1:p.Pro276=
XM_011541506.1:c.826C= XP_011539808.1:p.Pro276=
XM_011541507.1:c.817C= XP_011539809.1:p.Pro273=
XM_011541508.1:c.832C= XP_011539810.1:p.Pro278=
XR_946658.1:n.1335C=
NM_001350650.1:c.859C= NP_001337579.1:p.Pro287=
NM_001350651.1:c.859C= NP_001337580.1:p.Pro287=
NR_146882.1:n.1462C=
NR_146883.1:n.1276C=
XM_011541497.3:c.1264C= XP_011539799.1:p.Pro422=
XM_011541500.3:c.1246C= XP_011539802.1:p.Pro416=
XM_011541501.2:c.1246C= XP_011539803.1:p.Pro416=
XM_011541502.2:c.1246C= XP_011539804.1:p.Pro416=
XM_011541503.2:c.1246C= XP_011539805.1:p.Pro416=
XM_011541504.2:c.1237C= XP_011539806.1:p.Pro413=
XM_011541505.2:c.826C= XP_011539807.1:p.Pro276=
XM_011541506.2:c.826C= XP_011539808.1:p.Pro276=
XM_017001331.1:c.1246C= XP_016856820.1:p.Pro416=
XM_017001332.1:c.1246C= XP_016856821.1:p.Pro416=
XM_017001333.1:c.1246C= XP_016856822.1:p.Pro416=
XM_017001334.1:c.1207C= XP_016856823.1:p.Pro403=
XM_017001335.1:c.928C= XP_016856824.1:p.Pro310=
XM_017001336.1:c.859C= XP_016856825.1:p.Pro287=
XM_017001337.1:c.859C= XP_016856826.1:p.Pro287=
XM_024447244.1:c.859C= XP_024303012.1:p.Pro287=
XM_024447245.1:c.859C= XP_024303013.1:p.Pro287=
XM_024447248.1:c.817C= XP_024303016.1:p.Pro273=
XM_024447249.1:c.688C= XP_024303017.1:p.Pro230=
XM_024447250.1:c.688C= XP_024303018.1:p.Pro230=
XM_024447251.1:c.688C= XP_024303019.1:p.Pro230=
XR_001737190.1:n.1249C=
XR_001737192.1:n.1061C=
XR_002956643.1:n.1241C=
XR_002956644.1:n.1776C=
XR_946658.2:n.1349C=
NM_001048171.2:c.1204C= NP_001041636.2:p.Pro402=
NM_001128425.2:c.1288C= MANE Plus Clinical NP_001121897.1:p.Pro430=
NM_001048172.2:c.1207C= NP_001041637.1:p.Pro403=
NM_001048173.2:c.1204C= NP_001041638.1:p.Pro402=
NM_001048174.2:c.1204C= MANE Select NP_001041639.1:p.Pro402=
NM_001293190.2:c.1249C= NP_001280119.1:p.Pro417=
NM_001293191.2:c.1237C= NP_001280120.1:p.Pro413=
NM_001293192.2:c.928C= NP_001280121.1:p.Pro310=
NM_001293195.2:c.1204C= NP_001280124.1:p.Pro402=
NM_001293196.2:c.928C= NP_001280125.1:p.Pro310=
NM_001350650.2:c.859C= NP_001337579.1:p.Pro287=
NM_001350651.2:c.859C= NP_001337580.1:p.Pro287=
NM_012222.3:c.1279C= NP_036354.1:p.Pro427=
NR_146882.2:n.1432C=
NR_146883.2:n.1281C=