Canonical Allele Identifier: CA340135279

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 826620
• ClinVar RCV Id: RCV001025645
• dbSNP Id: rs371875647
• MyVariant Identifiers: chr1:g.45798258G>C (hg19) ; chr1:g.45332586G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332586G>C , CM000663.2:g.45332586G>C	GRCh38
NC_000001.10:g.45798258G>C , CM000663.1:g.45798258G>C	GRCh37
NC_000001.9:g.45570845G>C	NCBI36
NG_008189.1:g.12885C>G , LRG_220:g.12885C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.210C>G	ENSP00000410263.2:p.Ile70Met
ENST00000435155.2:c.627C>G	ENSP00000403655.2:p.Ile209Met
ENST00000467459.6:c.594C>G	ENSP00000435889.2:p.Ile198Met
ENST00000483127.2:c.612C>G	ENSP00000436469.2:p.Ile204Met
ENST00000485271.6:c.594C>G	ENSP00000431264.2:p.Ile198Met
ENST00000529892.6:c.636C>G	ENSP00000432528.2:p.Ile212Met
ENST00000533178.6:c.217C>G	ENSP00000436430.2:p.Arg73Gly
ENST00000672314.2:c.594C>G	ENSP00000500828.2:p.Ile198Met
ENST00000674679.2:c.*506C>G	ENSP00000501623.2:n.*506C>G
ENST00000710952.2:c.678C>G MANE Plus Clinical	ENSP00000518552.2:p.Ile226Met
ENST00000672818.3:c.669C>G	ENSP00000500891.1:p.Ile223Met
ENST00000450313.6:c.604C>G	ENSP00000408176.2:p.Arg202Gly
ENST00000456914.7:c.594C>G MANE Select	ENSP00000407590.2:p.Ile198Met
ENST00000461495.6:c.*333C>G	ENSP00000437166.1:n.*333C>G
ENST00000671898.1:c.1182C>G	ENSP00000499896.1:p.Ile394Met
ENST00000672011.1:c.562C>G	ENSP00000500418.1:p.Arg188Gly
ENST00000672314.1:c.594C>G	ENSP00000500828.1:p.Ile198Met
ENST00000672593.1:c.*482C>G	ENSP00000500455.1:n.*482C>G
ENST00000672764.1:c.553C>G	ENSP00000500886.1:p.Arg185Gly
ENST00000672818.2:c.669C>G	ENSP00000500891.1:p.Ile223Met
ENST00000673134.1:c.*291C>G	ENSP00000500526.1:n.*291C>G
ENST00000674679.1:c.622C>G	ENSP00000501623.1:n.622C>G
ENST00000354383.10:c.597C>G	ENSP00000346354.6:p.Ile199Met
ENST00000355498.6:c.594C>G	ENSP00000347685.2:p.Ile198Met
ENST00000372098.7:c.669C>G	ENSP00000361170.3:p.Ile223Met
ENST00000372104.5:c.594C>G	ENSP00000361176.1:p.Ile198Met
ENST00000372110.7:c.639C>G	ENSP00000361182.3:p.Ile213Met
ENST00000372115.7:c.636C>G	ENSP00000361187.3:p.Ile212Met
ENST00000412971.5:c.210C>G	ENSP00000410263.1:p.Ile70Met
ENST00000435155.1:c.627C>G	ENSP00000403655.1:p.Ile209Met
ENST00000448481.5:c.627C>G	ENSP00000409718.1:p.Ile209Met
ENST00000450313.5:c.678C>G	ENSP00000408176.1:p.Ile226Met
ENST00000456914.6:c.594C>G	ENSP00000407590.2:p.Ile198Met
ENST00000461495.5:c.*333C>G	ENSP00000437166.1:n.*333C>G
ENST00000462388.5:n.285C>G
ENST00000467940.5:c.*517C>G	ENSP00000436478.1:n.*517C>G
ENST00000470256.5:c.481C>G	ENSP00000434985.1:p.Arg161Gly
ENST00000475516.5:c.*407C>G	ENSP00000433843.1:n.*407C>G
ENST00000478796.5:n.581C>G
ENST00000479746.6:n.952C>G
ENST00000481571.5:c.*407C>G	ENSP00000436597.1:n.*407C>G
ENST00000488731.6:c.187+177C>G	ENSP00000432330.1:n.187+177C>G
ENST00000492494.5:n.991C>G
ENST00000525160.5:c.*245C>G	ENSP00000431568.1:n.*245C>G
ENST00000528013.6:c.636C>G	ENSP00000433130.2:p.Ile212Met
ENST00000529984.5:c.187+177C>G	ENSP00000437093.1:n.187+177C>G
ENST00000531105.5:c.115+1805C>G	ENSP00000431292.1:n.115+1805C>G
ENST00000533178.5:c.223C>G	ENSP00000436430.1:p.Arg75Gly
NM_001048171.1:c.636C>G	NP_001041636.1:p.Ile212Met
NM_001048172.1:c.597C>G	NP_001041637.1:p.Ile199Met
NM_001048173.1:c.594C>G	NP_001041638.1:p.Ile198Met
NM_001048174.1:c.594C>G	NP_001041639.1:p.Ile198Met
NM_001128425.1:c.678C>G , LRG_220t1:c.678C>G	NP_001121897.1:p.Ile226Met
NM_001293190.1:c.639C>G	NP_001280119.1:p.Ile213Met
NM_001293191.1:c.627C>G	NP_001280120.1:p.Ile209Met
NM_001293192.1:c.318C>G	NP_001280121.1:p.Ile106Met
NM_001293195.1:c.594C>G	NP_001280124.1:p.Ile198Met
NM_001293196.1:c.318C>G	NP_001280125.1:p.Ile106Met
NM_012222.2:c.669C>G	NP_036354.1:p.Ile223Met
XM_011541497.1:c.654C>G	XP_011539799.1:p.Ile218Met
XM_011541498.1:c.636C>G	XP_011539800.1:p.Ile212Met
XM_011541499.1:c.636C>G	XP_011539801.1:p.Ile212Met
XM_011541500.1:c.636C>G	XP_011539802.1:p.Ile212Met
XM_011541501.1:c.636C>G	XP_011539803.1:p.Ile212Met
XM_011541502.1:c.636C>G	XP_011539804.1:p.Ile212Met
XM_011541503.1:c.636C>G	XP_011539805.1:p.Ile212Met
XM_011541504.1:c.627C>G	XP_011539806.1:p.Ile209Met
XM_011541505.1:c.216C>G	XP_011539807.1:p.Ile72Met
XM_011541506.1:c.216C>G	XP_011539808.1:p.Ile72Met
XM_011541507.1:c.207C>G	XP_011539809.1:p.Ile69Met
XM_011541508.1:c.222C>G	XP_011539810.1:p.Ile74Met
XR_946658.1:n.725C>G
NM_001350650.1:c.249C>G	NP_001337579.1:p.Ile83Met
NM_001350651.1:c.249C>G	NP_001337580.1:p.Ile83Met
NR_146882.1:n.852C>G
NR_146883.1:n.666C>G
XM_011541497.3:c.654C>G	XP_011539799.1:p.Ile218Met
XM_011541500.3:c.636C>G	XP_011539802.1:p.Ile212Met
XM_011541501.2:c.636C>G	XP_011539803.1:p.Ile212Met
XM_011541502.2:c.636C>G	XP_011539804.1:p.Ile212Met
XM_011541503.2:c.636C>G	XP_011539805.1:p.Ile212Met
XM_011541504.2:c.627C>G	XP_011539806.1:p.Ile209Met
XM_011541505.2:c.216C>G	XP_011539807.1:p.Ile72Met
XM_011541506.2:c.216C>G	XP_011539808.1:p.Ile72Met
XM_017001331.1:c.636C>G	XP_016856820.1:p.Ile212Met
XM_017001332.1:c.636C>G	XP_016856821.1:p.Ile212Met
XM_017001333.1:c.636C>G	XP_016856822.1:p.Ile212Met
XM_017001334.1:c.597C>G	XP_016856823.1:p.Ile199Met
XM_017001335.1:c.318C>G	XP_016856824.1:p.Ile106Met
XM_017001336.1:c.249C>G	XP_016856825.1:p.Ile83Met
XM_017001337.1:c.249C>G	XP_016856826.1:p.Ile83Met
XM_024447244.1:c.249C>G	XP_024303012.1:p.Ile83Met
XM_024447245.1:c.249C>G	XP_024303013.1:p.Ile83Met
XM_024447248.1:c.207C>G	XP_024303016.1:p.Ile69Met
XM_024447249.1:c.78C>G	XP_024303017.1:p.Ile26Met
XM_024447250.1:c.78C>G	XP_024303018.1:p.Ile26Met
XM_024447251.1:c.78C>G	XP_024303019.1:p.Ile26Met
XR_001737190.1:n.639C>G
XR_001737192.1:n.451C>G
XR_002956643.1:n.631C>G
XR_002956644.1:n.1166C>G
XR_946658.2:n.739C>G
NM_001048171.2:c.594C>G	NP_001041636.2:p.Ile198Met
NM_001128425.2:c.678C>G MANE Plus Clinical	NP_001121897.1:p.Ile226Met
NM_001048172.2:c.597C>G	NP_001041637.1:p.Ile199Met
NM_001048173.2:c.594C>G	NP_001041638.1:p.Ile198Met
NM_001048174.2:c.594C>G MANE Select	NP_001041639.1:p.Ile198Met
NM_001293190.2:c.639C>G	NP_001280119.1:p.Ile213Met
NM_001293191.2:c.627C>G	NP_001280120.1:p.Ile209Met
NM_001293192.2:c.318C>G	NP_001280121.1:p.Ile106Met
NM_001293195.2:c.594C>G	NP_001280124.1:p.Ile198Met
NM_001293196.2:c.318C>G	NP_001280125.1:p.Ile106Met
NM_001350650.2:c.249C>G	NP_001337579.1:p.Ile83Met
NM_001350651.2:c.249C>G	NP_001337580.1:p.Ile83Met
NM_012222.3:c.669C>G	NP_036354.1:p.Ile223Met
NR_146882.2:n.822C>G
NR_146883.2:n.671C>G