Canonical Allele Identifier: CA340134530

Gene: MUTYH

Linked Data

• gnomAD v4: 1-45332234-C-G
• MyVariant Identifiers: chr1:g.45797906C>G (hg19) ; chr1:g.45332234C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332234C>G , CM000663.2:g.45332234C>G	GRCh38
NC_000001.10:g.45797906C>G , CM000663.1:g.45797906C>G	GRCh37
NC_000001.9:g.45570493C>G	NCBI36
NG_008189.1:g.13237G>C , LRG_220:g.13237G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.397G>C	ENSP00000410263.2:p.Val133Leu
ENST00000435155.2:c.814G>C	ENSP00000403655.2:p.Val272Leu
ENST00000467459.6:c.781G>C	ENSP00000435889.2:p.Val261Leu
ENST00000483127.2:c.799G>C	ENSP00000436469.2:p.Val267Leu
ENST00000485271.6:c.781G>C	ENSP00000431264.2:p.Val261Leu
ENST00000529892.6:c.823G>C	ENSP00000432528.2:p.Val275Leu
ENST00000533178.6:c.*110G>C	ENSP00000436430.2:n.*110G>C
ENST00000672314.2:c.781G>C	ENSP00000500828.2:p.Val261Leu
ENST00000674679.2:c.*693G>C	ENSP00000501623.2:n.*693G>C
ENST00000710952.2:c.865G>C MANE Plus Clinical	ENSP00000518552.2:p.Val289Leu
ENST00000672818.3:c.856G>C	ENSP00000500891.1:p.Val286Leu
ENST00000450313.6:c.*110G>C	ENSP00000408176.2:n.*110G>C
ENST00000456914.7:c.781G>C MANE Select	ENSP00000407590.2:p.Val261Leu
ENST00000461495.6:c.*520G>C	ENSP00000437166.1:n.*520G>C
ENST00000671898.1:c.1369G>C	ENSP00000499896.1:p.Val457Leu
ENST00000672011.1:c.*110G>C	ENSP00000500418.1:n.*110G>C
ENST00000672314.1:c.781G>C	ENSP00000500828.1:p.Val261Leu
ENST00000672593.1:c.*834G>C	ENSP00000500455.1:n.*834G>C
ENST00000672764.1:c.*110G>C	ENSP00000500886.1:n.*110G>C
ENST00000672818.2:c.856G>C	ENSP00000500891.1:p.Val286Leu
ENST00000673134.1:c.*478G>C	ENSP00000500526.1:n.*478G>C
ENST00000674679.1:c.809G>C	ENSP00000501623.1:n.809G>C
ENST00000354383.10:c.784G>C	ENSP00000346354.6:p.Val262Leu
ENST00000355498.6:c.781G>C	ENSP00000347685.2:p.Val261Leu
ENST00000372098.7:c.856G>C	ENSP00000361170.3:p.Val286Leu
ENST00000372104.5:c.781G>C	ENSP00000361176.1:p.Val261Leu
ENST00000372110.7:c.826G>C	ENSP00000361182.3:p.Val276Leu
ENST00000372115.7:c.823G>C	ENSP00000361187.3:p.Val275Leu
ENST00000412971.5:c.397G>C	ENSP00000410263.1:p.Val133Leu
ENST00000435155.1:c.814G>C	ENSP00000403655.1:p.Val272Leu
ENST00000448481.5:c.814G>C	ENSP00000409718.1:p.Val272Leu
ENST00000450313.5:c.865G>C	ENSP00000408176.1:p.Val289Leu
ENST00000456914.6:c.781G>C	ENSP00000407590.2:p.Val261Leu
ENST00000461495.5:c.*520G>C	ENSP00000437166.1:n.*520G>C
ENST00000462388.5:n.472G>C
ENST00000466231.1:n.146G>C
ENST00000467459.5:c.175G>C	ENSP00000435889.1:p.Val59Leu
ENST00000467940.5:c.*704G>C	ENSP00000436478.1:n.*704G>C
ENST00000470256.5:c.*110G>C	ENSP00000434985.1:n.*110G>C
ENST00000475516.5:c.*594G>C	ENSP00000433843.1:n.*594G>C
ENST00000478796.5:n.768G>C
ENST00000481571.5:c.*594G>C	ENSP00000436597.1:n.*594G>C
ENST00000488731.6:c.187+529G>C	ENSP00000432330.1:n.187+529G>C
ENST00000528013.6:c.823G>C	ENSP00000433130.2:p.Val275Leu
ENST00000529892.5:c.45G>C
ENST00000529984.5:c.187+529G>C	ENSP00000437093.1:n.187+529G>C
ENST00000531105.5:c.115+2157G>C	ENSP00000431292.1:n.115+2157G>C
ENST00000533178.5:c.410G>C	ENSP00000436430.1:n.410G>C
NM_001048171.1:c.823G>C	NP_001041636.1:p.Val275Leu
NM_001048172.1:c.784G>C	NP_001041637.1:p.Val262Leu
NM_001048173.1:c.781G>C	NP_001041638.1:p.Val261Leu
NM_001048174.1:c.781G>C	NP_001041639.1:p.Val261Leu
NM_001128425.1:c.865G>C , LRG_220t1:c.865G>C	NP_001121897.1:p.Val289Leu
NM_001293190.1:c.826G>C	NP_001280119.1:p.Val276Leu
NM_001293191.1:c.814G>C	NP_001280120.1:p.Val272Leu
NM_001293192.1:c.505G>C	NP_001280121.1:p.Val169Leu
NM_001293195.1:c.781G>C	NP_001280124.1:p.Val261Leu
NM_001293196.1:c.505G>C	NP_001280125.1:p.Val169Leu
NM_012222.2:c.856G>C	NP_036354.1:p.Val286Leu
XM_011541497.1:c.841G>C	XP_011539799.1:p.Val281Leu
XM_011541498.1:c.823G>C	XP_011539800.1:p.Val275Leu
XM_011541499.1:c.823G>C	XP_011539801.1:p.Val275Leu
XM_011541500.1:c.823G>C	XP_011539802.1:p.Val275Leu
XM_011541501.1:c.823G>C	XP_011539803.1:p.Val275Leu
XM_011541502.1:c.823G>C	XP_011539804.1:p.Val275Leu
XM_011541503.1:c.823G>C	XP_011539805.1:p.Val275Leu
XM_011541504.1:c.814G>C	XP_011539806.1:p.Val272Leu
XM_011541505.1:c.403G>C	XP_011539807.1:p.Val135Leu
XM_011541506.1:c.403G>C	XP_011539808.1:p.Val135Leu
XM_011541507.1:c.394G>C	XP_011539809.1:p.Val132Leu
XM_011541508.1:c.409G>C	XP_011539810.1:p.Val137Leu
XR_946658.1:n.912G>C
NM_001350650.1:c.436G>C	NP_001337579.1:p.Val146Leu
NM_001350651.1:c.436G>C	NP_001337580.1:p.Val146Leu
NR_146882.1:n.1039G>C
NR_146883.1:n.853G>C
XM_011541497.3:c.841G>C	XP_011539799.1:p.Val281Leu
XM_011541500.3:c.823G>C	XP_011539802.1:p.Val275Leu
XM_011541501.2:c.823G>C	XP_011539803.1:p.Val275Leu
XM_011541502.2:c.823G>C	XP_011539804.1:p.Val275Leu
XM_011541503.2:c.823G>C	XP_011539805.1:p.Val275Leu
XM_011541504.2:c.814G>C	XP_011539806.1:p.Val272Leu
XM_011541505.2:c.403G>C	XP_011539807.1:p.Val135Leu
XM_011541506.2:c.403G>C	XP_011539808.1:p.Val135Leu
XM_017001331.1:c.823G>C	XP_016856820.1:p.Val275Leu
XM_017001332.1:c.823G>C	XP_016856821.1:p.Val275Leu
XM_017001333.1:c.823G>C	XP_016856822.1:p.Val275Leu
XM_017001334.1:c.784G>C	XP_016856823.1:p.Val262Leu
XM_017001335.1:c.505G>C	XP_016856824.1:p.Val169Leu
XM_017001336.1:c.436G>C	XP_016856825.1:p.Val146Leu
XM_017001337.1:c.436G>C	XP_016856826.1:p.Val146Leu
XM_024447244.1:c.436G>C	XP_024303012.1:p.Val146Leu
XM_024447245.1:c.436G>C	XP_024303013.1:p.Val146Leu
XM_024447248.1:c.394G>C	XP_024303016.1:p.Val132Leu
XM_024447249.1:c.265G>C	XP_024303017.1:p.Val89Leu
XM_024447250.1:c.265G>C	XP_024303018.1:p.Val89Leu
XM_024447251.1:c.265G>C	XP_024303019.1:p.Val89Leu
XR_001737190.1:n.826G>C
XR_001737192.1:n.638G>C
XR_002956643.1:n.818G>C
XR_002956644.1:n.1353G>C
XR_946658.2:n.926G>C
NM_001048171.2:c.781G>C	NP_001041636.2:p.Val261Leu
NM_001128425.2:c.865G>C MANE Plus Clinical	NP_001121897.1:p.Val289Leu
NM_001048172.2:c.784G>C	NP_001041637.1:p.Val262Leu
NM_001048173.2:c.781G>C	NP_001041638.1:p.Val261Leu
NM_001048174.2:c.781G>C MANE Select	NP_001041639.1:p.Val261Leu
NM_001293190.2:c.826G>C	NP_001280119.1:p.Val276Leu
NM_001293191.2:c.814G>C	NP_001280120.1:p.Val272Leu
NM_001293192.2:c.505G>C	NP_001280121.1:p.Val169Leu
NM_001293195.2:c.781G>C	NP_001280124.1:p.Val261Leu
NM_001293196.2:c.505G>C	NP_001280125.1:p.Val169Leu
NM_001350650.2:c.436G>C	NP_001337579.1:p.Val146Leu
NM_001350651.2:c.436G>C	NP_001337580.1:p.Val146Leu
NM_012222.3:c.856G>C	NP_036354.1:p.Val286Leu
NR_146882.2:n.1009G>C
NR_146883.2:n.858G>C