Canonical Allele Identifier: CA16042398

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 372416
• ClinVar RCV Id: RCV000414648 ; RCV000502397 ; RCV001026079 ; RCV001353995
• dbSNP Id: rs1057517765
• gnomAD v4: 1-45332466-T-C
• MyVariant Identifiers: chr1:g.45798138T>C (hg19) ; chr1:g.45332466T>C (hg38)
• PubMed: PMID:18515411 ; PMID:19732775 ; PMID:19836313

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332466T>C , CM000663.2:g.45332466T>C	GRCh38
NC_000001.10:g.45798138T>C , CM000663.1:g.45798138T>C	GRCh37
NC_000001.9:g.45570725T>C	NCBI36
NG_008189.1:g.13005A>G , LRG_220:g.13005A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.245A>G	ENSP00000410263.2:p.Asn82Ser
ENST00000435155.2:c.662A>G	ENSP00000403655.2:p.Asn221Ser
ENST00000467459.6:c.629A>G	ENSP00000435889.2:p.Asn210Ser
ENST00000483127.2:c.647A>G	ENSP00000436469.2:p.Asn216Ser
ENST00000485271.6:c.629A>G	ENSP00000431264.2:p.Asn210Ser
ENST00000529892.6:c.671A>G	ENSP00000432528.2:p.Asn224Ser
ENST00000533178.6:c.252A>G	ENSP00000436430.2:p.Gln84=
ENST00000672314.2:c.629A>G	ENSP00000500828.2:p.Asn210Ser
ENST00000674679.2:c.*541A>G	ENSP00000501623.2:n.*541A>G
ENST00000710952.2:c.713A>G MANE Plus Clinical	ENSP00000518552.2:p.Asn238Ser
ENST00000672818.3:c.704A>G	ENSP00000500891.1:p.Asn235Ser
ENST00000450313.6:c.639A>G	ENSP00000408176.2:p.Gln213=
ENST00000456914.7:c.629A>G MANE Select	ENSP00000407590.2:p.Asn210Ser
ENST00000461495.6:c.*368A>G	ENSP00000437166.1:n.*368A>G
ENST00000671898.1:c.1217A>G	ENSP00000499896.1:p.Asn406Ser
ENST00000672011.1:c.597A>G	ENSP00000500418.1:p.Gln199=
ENST00000672314.1:c.629A>G	ENSP00000500828.1:p.Asn210Ser
ENST00000672593.1:c.*602A>G	ENSP00000500455.1:n.*602A>G
ENST00000672764.1:c.588A>G	ENSP00000500886.1:p.Gln196=
ENST00000672818.2:c.704A>G	ENSP00000500891.1:p.Asn235Ser
ENST00000673134.1:c.*326A>G	ENSP00000500526.1:n.*326A>G
ENST00000674679.1:c.657A>G	ENSP00000501623.1:n.657A>G
ENST00000354383.10:c.632A>G	ENSP00000346354.6:p.Asn211Ser
ENST00000355498.6:c.629A>G	ENSP00000347685.2:p.Asn210Ser
ENST00000372098.7:c.704A>G	ENSP00000361170.3:p.Asn235Ser
ENST00000372104.5:c.629A>G	ENSP00000361176.1:p.Asn210Ser
ENST00000372110.7:c.674A>G	ENSP00000361182.3:p.Asn225Ser
ENST00000372115.7:c.671A>G	ENSP00000361187.3:p.Asn224Ser
ENST00000412971.5:c.245A>G	ENSP00000410263.1:p.Asn82Ser
ENST00000435155.1:c.662A>G	ENSP00000403655.1:p.Asn221Ser
ENST00000448481.5:c.662A>G	ENSP00000409718.1:p.Asn221Ser
ENST00000450313.5:c.713A>G	ENSP00000408176.1:p.Asn238Ser
ENST00000456914.6:c.629A>G	ENSP00000407590.2:p.Asn210Ser
ENST00000461495.5:c.*368A>G	ENSP00000437166.1:n.*368A>G
ENST00000462388.5:n.320A>G
ENST00000467459.5:c.23A>G	ENSP00000435889.1:p.Asn8Ser
ENST00000467940.5:c.*552A>G	ENSP00000436478.1:n.*552A>G
ENST00000470256.5:c.516A>G	ENSP00000434985.1:p.Gln172=
ENST00000475516.5:c.*442A>G	ENSP00000433843.1:n.*442A>G
ENST00000478796.5:n.616A>G
ENST00000481571.5:c.*442A>G	ENSP00000436597.1:n.*442A>G
ENST00000488731.6:c.187+297A>G	ENSP00000432330.1:n.187+297A>G
ENST00000525160.5:c.*280A>G	ENSP00000431568.1:n.*280A>G
ENST00000528013.6:c.671A>G	ENSP00000433130.2:p.Asn224Ser
ENST00000529984.5:c.187+297A>G	ENSP00000437093.1:n.187+297A>G
ENST00000531105.5:c.115+1925A>G	ENSP00000431292.1:n.115+1925A>G
ENST00000533178.5:c.258A>G	ENSP00000436430.1:p.Gln86=
NM_001048171.1:c.671A>G	NP_001041636.1:p.Asn224Ser
NM_001048172.1:c.632A>G	NP_001041637.1:p.Asn211Ser
NM_001048173.1:c.629A>G	NP_001041638.1:p.Asn210Ser
NM_001048174.1:c.629A>G	NP_001041639.1:p.Asn210Ser
NM_001128425.1:c.713A>G , LRG_220t1:c.713A>G	NP_001121897.1:p.Asn238Ser
NM_001293190.1:c.674A>G	NP_001280119.1:p.Asn225Ser
NM_001293191.1:c.662A>G	NP_001280120.1:p.Asn221Ser
NM_001293192.1:c.353A>G	NP_001280121.1:p.Asn118Ser
NM_001293195.1:c.629A>G	NP_001280124.1:p.Asn210Ser
NM_001293196.1:c.353A>G	NP_001280125.1:p.Asn118Ser
NM_012222.2:c.704A>G	NP_036354.1:p.Asn235Ser
XM_011541497.1:c.689A>G	XP_011539799.1:p.Asn230Ser
XM_011541498.1:c.671A>G	XP_011539800.1:p.Asn224Ser
XM_011541499.1:c.671A>G	XP_011539801.1:p.Asn224Ser
XM_011541500.1:c.671A>G	XP_011539802.1:p.Asn224Ser
XM_011541501.1:c.671A>G	XP_011539803.1:p.Asn224Ser
XM_011541502.1:c.671A>G	XP_011539804.1:p.Asn224Ser
XM_011541503.1:c.671A>G	XP_011539805.1:p.Asn224Ser
XM_011541504.1:c.662A>G	XP_011539806.1:p.Asn221Ser
XM_011541505.1:c.251A>G	XP_011539807.1:p.Asn84Ser
XM_011541506.1:c.251A>G	XP_011539808.1:p.Asn84Ser
XM_011541507.1:c.242A>G	XP_011539809.1:p.Asn81Ser
XM_011541508.1:c.257A>G	XP_011539810.1:p.Asn86Ser
XR_946658.1:n.760A>G
NM_001350650.1:c.284A>G	NP_001337579.1:p.Asn95Ser
NM_001350651.1:c.284A>G	NP_001337580.1:p.Asn95Ser
NR_146882.1:n.887A>G
NR_146883.1:n.701A>G
XM_011541497.3:c.689A>G	XP_011539799.1:p.Asn230Ser
XM_011541500.3:c.671A>G	XP_011539802.1:p.Asn224Ser
XM_011541501.2:c.671A>G	XP_011539803.1:p.Asn224Ser
XM_011541502.2:c.671A>G	XP_011539804.1:p.Asn224Ser
XM_011541503.2:c.671A>G	XP_011539805.1:p.Asn224Ser
XM_011541504.2:c.662A>G	XP_011539806.1:p.Asn221Ser
XM_011541505.2:c.251A>G	XP_011539807.1:p.Asn84Ser
XM_011541506.2:c.251A>G	XP_011539808.1:p.Asn84Ser
XM_017001331.1:c.671A>G	XP_016856820.1:p.Asn224Ser
XM_017001332.1:c.671A>G	XP_016856821.1:p.Asn224Ser
XM_017001333.1:c.671A>G	XP_016856822.1:p.Asn224Ser
XM_017001334.1:c.632A>G	XP_016856823.1:p.Asn211Ser
XM_017001335.1:c.353A>G	XP_016856824.1:p.Asn118Ser
XM_017001336.1:c.284A>G	XP_016856825.1:p.Asn95Ser
XM_017001337.1:c.284A>G	XP_016856826.1:p.Asn95Ser
XM_024447244.1:c.284A>G	XP_024303012.1:p.Asn95Ser
XM_024447245.1:c.284A>G	XP_024303013.1:p.Asn95Ser
XM_024447248.1:c.242A>G	XP_024303016.1:p.Asn81Ser
XM_024447249.1:c.113A>G	XP_024303017.1:p.Asn38Ser
XM_024447250.1:c.113A>G	XP_024303018.1:p.Asn38Ser
XM_024447251.1:c.113A>G	XP_024303019.1:p.Asn38Ser
XR_001737190.1:n.674A>G
XR_001737192.1:n.486A>G
XR_002956643.1:n.666A>G
XR_002956644.1:n.1201A>G
XR_946658.2:n.774A>G
NM_001048171.2:c.629A>G	NP_001041636.2:p.Asn210Ser
NM_001128425.2:c.713A>G MANE Plus Clinical	NP_001121897.1:p.Asn238Ser
NM_001048172.2:c.632A>G	NP_001041637.1:p.Asn211Ser
NM_001048173.2:c.629A>G	NP_001041638.1:p.Asn210Ser
NM_001048174.2:c.629A>G MANE Select	NP_001041639.1:p.Asn210Ser
NM_001293190.2:c.674A>G	NP_001280119.1:p.Asn225Ser
NM_001293191.2:c.662A>G	NP_001280120.1:p.Asn221Ser
NM_001293192.2:c.353A>G	NP_001280121.1:p.Asn118Ser
NM_001293195.2:c.629A>G	NP_001280124.1:p.Asn210Ser
NM_001293196.2:c.353A>G	NP_001280125.1:p.Asn118Ser
NM_001350650.2:c.284A>G	NP_001337579.1:p.Asn95Ser
NM_001350651.2:c.284A>G	NP_001337580.1:p.Asn95Ser
NM_012222.3:c.704A>G	NP_036354.1:p.Asn235Ser
NR_146882.2:n.857A>G
NR_146883.2:n.706A>G