Canonical Allele Identifier: CA16610123

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 414152
• ClinVar RCV Id: RCV000485527 ; RCV001078795
• dbSNP Id: rs1060504205
• gnomAD v4: 1-45332156-G-A
• MyVariant Identifiers: chr1:g.45797828G>A (hg19) ; chr1:g.45332156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332156G>A , CM000663.2:g.45332156G>A	GRCh38
NC_000001.10:g.45797828G>A , CM000663.1:g.45797828G>A	GRCh37
NC_000001.9:g.45570415G>A	NCBI36
NG_008189.1:g.13315C>T , LRG_220:g.13315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.465+10C>T	ENSP00000410263.2:n.465+10C>T
ENST00000435155.2:c.882+10C>T	ENSP00000403655.2:n.882+10C>T
ENST00000467459.6:c.849+10C>T	ENSP00000435889.2:n.849+10C>T
ENST00000483127.2:c.867+10C>T	ENSP00000436469.2:n.867+10C>T
ENST00000485271.6:c.849+10C>T	ENSP00000431264.2:n.849+10C>T
ENST00000529892.6:c.891+10C>T	ENSP00000432528.2:n.891+10C>T
ENST00000533178.6:c.*178+10C>T	ENSP00000436430.2:n.*178+10C>T
ENST00000672314.2:c.849+10C>T	ENSP00000500828.2:n.849+10C>T
ENST00000710952.2:c.933+10C>T MANE Plus Clinical	ENSP00000518552.2:n.933+10C>T
ENST00000672818.3:c.924+10C>T	ENSP00000500891.1:n.924+10C>T
ENST00000456914.7:c.849+10C>T MANE Select	ENSP00000407590.2:n.849+10C>T
ENST00000461495.6:c.*588+10C>T	ENSP00000437166.1:n.*588+10C>T
ENST00000671898.1:c.1437+10C>T	ENSP00000499896.1:n.1437+10C>T
ENST00000672011.1:c.*178+10C>T	ENSP00000500418.1:n.*178+10C>T
ENST00000672314.1:c.849+10C>T	ENSP00000500828.1:n.849+10C>T
ENST00000672593.1:c.*902+10C>T	ENSP00000500455.1:n.*902+10C>T
ENST00000672764.1:c.*178+10C>T	ENSP00000500886.1:n.*178+10C>T
ENST00000672818.2:c.924+10C>T	ENSP00000500891.1:n.924+10C>T
ENST00000673134.1:c.*546+10C>T	ENSP00000500526.1:n.*546+10C>T
ENST00000354383.10:c.852+10C>T	ENSP00000346354.6:n.852+10C>T
ENST00000355498.6:c.849+10C>T	ENSP00000347685.2:n.849+10C>T
ENST00000372098.7:c.924+10C>T	ENSP00000361170.3:n.924+10C>T
ENST00000372104.5:c.849+10C>T	ENSP00000361176.1:n.849+10C>T
ENST00000372110.7:c.894+10C>T	ENSP00000361182.3:n.894+10C>T
ENST00000372115.7:c.891+10C>T	ENSP00000361187.3:n.891+10C>T
ENST00000412971.5:c.465+10C>T	ENSP00000410263.1:n.465+10C>T
ENST00000448481.5:c.882+10C>T	ENSP00000409718.1:n.882+10C>T
ENST00000450313.5:c.933+10C>T	ENSP00000408176.1:n.933+10C>T
ENST00000456914.6:c.849+10C>T	ENSP00000407590.2:n.849+10C>T
ENST00000461495.5:c.*588+10C>T	ENSP00000437166.1:n.*588+10C>T
ENST00000462388.5:n.540+10C>T
ENST00000466231.1:n.214+10C>T
ENST00000467459.5:c.243+10C>T	ENSP00000435889.1:n.243+10C>T
ENST00000470256.5:c.*178+10C>T	ENSP00000434985.1:n.*178+10C>T
ENST00000475516.5:c.*662+10C>T	ENSP00000433843.1:n.*662+10C>T
ENST00000481571.5:c.*662+10C>T	ENSP00000436597.1:n.*662+10C>T
ENST00000488731.6:c.188-600C>T	ENSP00000432330.1:n.188-600C>T
ENST00000528013.6:c.891+10C>T	ENSP00000433130.2:n.891+10C>T
ENST00000529892.5:c.113+10C>T
ENST00000529984.5:c.188-600C>T	ENSP00000437093.1:n.188-600C>T
ENST00000531105.5:c.115+2235C>T	ENSP00000431292.1:n.115+2235C>T
ENST00000533178.5:c.478+10C>T	ENSP00000436430.1:n.478+10C>T
NM_001048171.1:c.891+10C>T	NP_001041636.1:n.891+10C>T
NM_001048172.1:c.852+10C>T	NP_001041637.1:n.852+10C>T
NM_001048173.1:c.849+10C>T	NP_001041638.1:n.849+10C>T
NM_001048174.1:c.849+10C>T	NP_001041639.1:n.849+10C>T
NM_001128425.1:c.933+10C>T , LRG_220t1:c.933+10C>T	NP_001121897.1:n.933+10C>T
NM_001293190.1:c.894+10C>T	NP_001280119.1:n.894+10C>T
NM_001293191.1:c.882+10C>T	NP_001280120.1:n.882+10C>T
NM_001293192.1:c.573+10C>T	NP_001280121.1:n.573+10C>T
NM_001293195.1:c.849+10C>T	NP_001280124.1:n.849+10C>T
NM_001293196.1:c.573+10C>T	NP_001280125.1:n.573+10C>T
NM_012222.2:c.924+10C>T	NP_036354.1:n.924+10C>T
XM_011541497.1:c.909+10C>T	XP_011539799.1:n.909+10C>T
XM_011541498.1:c.891+10C>T	XP_011539800.1:n.891+10C>T
XM_011541499.1:c.891+10C>T	XP_011539801.1:n.891+10C>T
XM_011541500.1:c.891+10C>T	XP_011539802.1:n.891+10C>T
XM_011541501.1:c.891+10C>T	XP_011539803.1:n.891+10C>T
XM_011541502.1:c.891+10C>T	XP_011539804.1:n.891+10C>T
XM_011541503.1:c.891+10C>T	XP_011539805.1:n.891+10C>T
XM_011541504.1:c.882+10C>T	XP_011539806.1:n.882+10C>T
XM_011541505.1:c.471+10C>T	XP_011539807.1:n.471+10C>T
XM_011541506.1:c.471+10C>T	XP_011539808.1:n.471+10C>T
XM_011541507.1:c.462+10C>T	XP_011539809.1:n.462+10C>T
XM_011541508.1:c.477+10C>T	XP_011539810.1:n.477+10C>T
XR_946658.1:n.980+10C>T
NM_001350650.1:c.504+10C>T	NP_001337579.1:n.504+10C>T
NM_001350651.1:c.504+10C>T	NP_001337580.1:n.504+10C>T
NR_146882.1:n.1107+10C>T
NR_146883.1:n.921+10C>T
XM_011541497.3:c.909+10C>T	XP_011539799.1:n.909+10C>T
XM_011541500.3:c.891+10C>T	XP_011539802.1:n.891+10C>T
XM_011541501.2:c.891+10C>T	XP_011539803.1:n.891+10C>T
XM_011541502.2:c.891+10C>T	XP_011539804.1:n.891+10C>T
XM_011541503.2:c.891+10C>T	XP_011539805.1:n.891+10C>T
XM_011541504.2:c.882+10C>T	XP_011539806.1:n.882+10C>T
XM_011541505.2:c.471+10C>T	XP_011539807.1:n.471+10C>T
XM_011541506.2:c.471+10C>T	XP_011539808.1:n.471+10C>T
XM_017001331.1:c.891+10C>T	XP_016856820.1:n.891+10C>T
XM_017001332.1:c.891+10C>T	XP_016856821.1:n.891+10C>T
XM_017001333.1:c.891+10C>T	XP_016856822.1:n.891+10C>T
XM_017001334.1:c.852+10C>T	XP_016856823.1:n.852+10C>T
XM_017001335.1:c.573+10C>T	XP_016856824.1:n.573+10C>T
XM_017001336.1:c.504+10C>T	XP_016856825.1:n.504+10C>T
XM_017001337.1:c.504+10C>T	XP_016856826.1:n.504+10C>T
XM_024447244.1:c.504+10C>T	XP_024303012.1:n.504+10C>T
XM_024447245.1:c.504+10C>T	XP_024303013.1:n.504+10C>T
XM_024447248.1:c.462+10C>T	XP_024303016.1:n.462+10C>T
XM_024447249.1:c.333+10C>T	XP_024303017.1:n.333+10C>T
XM_024447250.1:c.333+10C>T	XP_024303018.1:n.333+10C>T
XM_024447251.1:c.333+10C>T	XP_024303019.1:n.333+10C>T
XR_001737190.1:n.894+10C>T
XR_001737192.1:n.706+10C>T
XR_002956643.1:n.886+10C>T
XR_002956644.1:n.1421+10C>T
XR_946658.2:n.994+10C>T
NM_001048171.2:c.849+10C>T	NP_001041636.2:n.849+10C>T
NM_001128425.2:c.933+10C>T MANE Plus Clinical	NP_001121897.1:n.933+10C>T
NM_001048172.2:c.852+10C>T	NP_001041637.1:n.852+10C>T
NM_001048173.2:c.849+10C>T	NP_001041638.1:n.849+10C>T
NM_001048174.2:c.849+10C>T MANE Select	NP_001041639.1:n.849+10C>T
NM_001293190.2:c.894+10C>T	NP_001280119.1:n.894+10C>T
NM_001293191.2:c.882+10C>T	NP_001280120.1:n.882+10C>T
NM_001293192.2:c.573+10C>T	NP_001280121.1:n.573+10C>T
NM_001293195.2:c.849+10C>T	NP_001280124.1:n.849+10C>T
NM_001293196.2:c.573+10C>T	NP_001280125.1:n.573+10C>T
NM_001350650.2:c.504+10C>T	NP_001337579.1:n.504+10C>T
NM_001350651.2:c.504+10C>T	NP_001337580.1:n.504+10C>T
NM_012222.3:c.924+10C>T	NP_036354.1:n.924+10C>T
NR_146882.2:n.1077+10C>T
NR_146883.2:n.926+10C>T