Canonical Allele Identifier: CA417702076
Gene: MUTYH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.45796917T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331245T>G , CM000663.2:g.45331245T>G GRCh38
NC_000001.10:g.45796917T>G , CM000663.1:g.45796917T>G GRCh37
NC_000001.9:g.45569504T>G NCBI36
NG_008189.1:g.14226A>C , LRG_220:g.14226A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000672818.3:c.1404A>C ENSP00000500891.1:p.Pro468=
ENST00000456914.7:c.1329A>C MANE Select ENSP00000407590.2:p.Pro443=
ENST00000671898.1:c.1917A>C ENSP00000499896.1:p.Pro639=
ENST00000672011.1:c.*658A>C ENSP00000500418.1:n.*658A>C
ENST00000672314.1:c.1329A>C ENSP00000500828.1:p.Pro443=
ENST00000672818.2:c.1404A>C ENSP00000500891.1:p.Pro468=
ENST00000673134.1:c.*1026A>C ENSP00000500526.1:n.*1026A>C
ENST00000354383.10:c.1332A>C ENSP00000346354.6:p.Pro444=
ENST00000355498.6:c.1329A>C ENSP00000347685.2:p.Pro443=
ENST00000372098.7:c.1404A>C ENSP00000361170.3:p.Pro468=
ENST00000372104.5:c.1329A>C ENSP00000361176.1:p.Pro443=
ENST00000372110.7:c.1374A>C ENSP00000361182.3:p.Pro458=
ENST00000372115.7:c.1371A>C ENSP00000361187.3:p.Pro457=
ENST00000448481.5:c.1362A>C ENSP00000409718.1:p.Pro454=
ENST00000450313.5:c.1413A>C ENSP00000408176.1:p.Pro471=
ENST00000456914.6:c.1329A>C ENSP00000407590.2:p.Pro443=
ENST00000467459.5:n.746A>C ENSP00000435889.1:n.746A>C
ENST00000475516.5:c.*1142A>C ENSP00000433843.1:n.*1142A>C
ENST00000481571.5:c.*1142A>C ENSP00000436597.1:n.*1142A>C
ENST00000482094.5:n.650A>C
ENST00000485271.5:n.26A>C
ENST00000488731.6:c.414A>C ENSP00000432330.1:p.Pro138=
ENST00000528013.6:c.1371A>C ENSP00000433130.2:p.Pro457=
ENST00000529892.5:n.404A>C
ENST00000529984.5:c.414A>C ENSP00000437093.1:p.Pro138=
ENST00000531105.5:c.116-1808A>C ENSP00000431292.1:n.116-1808A>C
ENST00000533178.5:n.958A>C ENSP00000436430.1:n.958A>C
NM_001048171.1:c.1371A>C NP_001041636.1:p.Pro457=
NM_001048172.1:c.1332A>C NP_001041637.1:p.Pro444=
NM_001048173.1:c.1329A>C NP_001041638.1:p.Pro443=
NM_001048174.1:c.1329A>C NP_001041639.1:p.Pro443=
NM_001128425.1:c.1413A>C , LRG_220t1:c.1413A>C NP_001121897.1:p.Pro471=
NM_001293190.1:c.1374A>C NP_001280119.1:p.Pro458=
NM_001293191.1:c.1362A>C NP_001280120.1:p.Pro454=
NM_001293192.1:c.1053A>C NP_001280121.1:p.Pro351=
NM_001293195.1:c.1329A>C NP_001280124.1:p.Pro443=
NM_001293196.1:c.1053A>C NP_001280125.1:p.Pro351=
NM_012222.2:c.1404A>C NP_036354.1:p.Pro468=
XM_011541497.1:c.1389A>C XP_011539799.1:p.Pro463=
XM_011541498.1:c.1371A>C XP_011539800.1:p.Pro457=
XM_011541499.1:c.1371A>C XP_011539801.1:p.Pro457=
XM_011541500.1:c.1371A>C XP_011539802.1:p.Pro457=
XM_011541501.1:c.1371A>C XP_011539803.1:p.Pro457=
XM_011541502.1:c.1371A>C XP_011539804.1:p.Pro457=
XM_011541503.1:c.1371A>C XP_011539805.1:p.Pro457=
XM_011541504.1:c.1362A>C XP_011539806.1:p.Pro454=
XM_011541505.1:c.951A>C XP_011539807.1:p.Pro317=
XM_011541506.1:c.951A>C XP_011539808.1:p.Pro317=
XM_011541507.1:c.942A>C XP_011539809.1:p.Pro314=
XM_011541508.1:c.957A>C XP_011539810.1:p.Pro319=
XR_946658.1:n.1460A>C
NM_001350650.1:c.984A>C NP_001337579.1:p.Pro328=
NM_001350651.1:c.984A>C NP_001337580.1:p.Pro328=
NR_146882.1:n.1587A>C
NR_146883.1:n.1401A>C
XM_011541497.3:c.1389A>C XP_011539799.1:p.Pro463=
XM_011541500.3:c.1371A>C XP_011539802.1:p.Pro457=
XM_011541501.2:c.1371A>C XP_011539803.1:p.Pro457=
XM_011541502.2:c.1371A>C XP_011539804.1:p.Pro457=
XM_011541503.2:c.1371A>C XP_011539805.1:p.Pro457=
XM_011541504.2:c.1362A>C XP_011539806.1:p.Pro454=
XM_011541505.2:c.951A>C XP_011539807.1:p.Pro317=
XM_011541506.2:c.951A>C XP_011539808.1:p.Pro317=
XM_017001331.1:c.1371A>C XP_016856820.1:p.Pro457=
XM_017001332.1:c.1371A>C XP_016856821.1:p.Pro457=
XM_017001333.1:c.1371A>C XP_016856822.1:p.Pro457=
XM_017001334.1:c.1332A>C XP_016856823.1:p.Pro444=
XM_017001335.1:c.1053A>C XP_016856824.1:p.Pro351=
XM_017001336.1:c.984A>C XP_016856825.1:p.Pro328=
XM_017001337.1:c.984A>C XP_016856826.1:p.Pro328=
XM_024447244.1:c.984A>C XP_024303012.1:p.Pro328=
XM_024447245.1:c.984A>C XP_024303013.1:p.Pro328=
XM_024447248.1:c.942A>C XP_024303016.1:p.Pro314=
XM_024447249.1:c.813A>C XP_024303017.1:p.Pro271=
XM_024447250.1:c.813A>C XP_024303018.1:p.Pro271=
XM_024447251.1:c.813A>C XP_024303019.1:p.Pro271=
XR_001737190.1:n.1374A>C
XR_001737192.1:n.1186A>C
XR_002956643.1:n.1366A>C
XR_002956644.1:n.1901A>C
XR_946658.2:n.1474A>C
NM_001048171.2:c.1329A>C NP_001041636.2:p.Pro443=
NM_001128425.2:c.1413A>C NP_001121897.1:p.Pro471=
NM_001048172.2:c.1332A>C NP_001041637.1:p.Pro444=
NM_001048173.2:c.1329A>C NP_001041638.1:p.Pro443=
NM_001048174.2:c.1329A>C MANE Select NP_001041639.1:p.Pro443=
NM_001293190.2:c.1374A>C NP_001280119.1:p.Pro458=
NM_001293191.2:c.1362A>C NP_001280120.1:p.Pro454=
NM_001293192.2:c.1053A>C NP_001280121.1:p.Pro351=
NM_001293195.2:c.1329A>C NP_001280124.1:p.Pro443=
NM_001293196.2:c.1053A>C NP_001280125.1:p.Pro351=
NM_001350650.2:c.984A>C NP_001337579.1:p.Pro328=
NM_001350651.2:c.984A>C NP_001337580.1:p.Pro328=
NM_012222.3:c.1404A>C NP_036354.1:p.Pro468=
NR_146882.2:n.1557A>C
NR_146883.2:n.1406A>C