Canonical Allele Identifier: CA21838549

Gene: MUTYH

Linked Data

• dbSNP Id: rs982058566
• gnomAD v2: 1-45798296-C-T
• MyVariant Identifiers: chr1:g.45798296C>T (hg19) ; chr1:g.45332624C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332624C>T , CM000663.2:g.45332624C>T	GRCh38
NC_000001.10:g.45798296C>T , CM000663.1:g.45798296C>T	GRCh37
NC_000001.9:g.45570883C>T	NCBI36
NG_008189.1:g.12847G>A , LRG_220:g.12847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.172G>A	ENSP00000410263.2:p.Gly58Ser
ENST00000435155.2:c.589G>A	ENSP00000403655.2:p.Gly197Ser
ENST00000467459.6:c.556G>A	ENSP00000435889.2:p.Gly186Ser
ENST00000483127.2:c.574G>A	ENSP00000436469.2:p.Gly192Ser
ENST00000485271.6:c.556G>A	ENSP00000431264.2:p.Gly186Ser
ENST00000529892.6:c.598G>A	ENSP00000432528.2:p.Gly200Ser
ENST00000533178.6:c.179G>A	ENSP00000436430.2:p.Trp60Ter
ENST00000672314.2:c.556G>A	ENSP00000500828.2:p.Gly186Ser
ENST00000674679.2:c.*468G>A	ENSP00000501623.2:n.*468G>A
ENST00000710952.2:c.640G>A MANE Plus Clinical	ENSP00000518552.2:p.Gly214Ser
ENST00000672818.3:c.631G>A	ENSP00000500891.1:p.Gly211Ser
ENST00000450313.6:c.566G>A	ENSP00000408176.2:p.Trp189Ter
ENST00000456914.7:c.556G>A MANE Select	ENSP00000407590.2:p.Gly186Ser
ENST00000461495.6:c.*295G>A	ENSP00000437166.1:n.*295G>A
ENST00000671856.1:n.502G>A
ENST00000671898.1:c.1144G>A	ENSP00000499896.1:p.Gly382Ser
ENST00000672011.1:c.524G>A	ENSP00000500418.1:p.Trp175Ter
ENST00000672314.1:c.556G>A	ENSP00000500828.1:p.Gly186Ser
ENST00000672593.1:c.*444G>A	ENSP00000500455.1:n.*444G>A
ENST00000672764.1:c.515G>A	ENSP00000500886.1:p.Trp172Ter
ENST00000672818.2:c.631G>A	ENSP00000500891.1:p.Gly211Ser
ENST00000673134.1:c.*253G>A	ENSP00000500526.1:n.*253G>A
ENST00000674679.1:c.584G>A	ENSP00000501623.1:n.584G>A
ENST00000354383.10:c.559G>A	ENSP00000346354.6:p.Gly187Ser
ENST00000355498.6:c.556G>A	ENSP00000347685.2:p.Gly186Ser
ENST00000372098.7:c.631G>A	ENSP00000361170.3:p.Gly211Ser
ENST00000372104.5:c.556G>A	ENSP00000361176.1:p.Gly186Ser
ENST00000372110.7:c.601G>A	ENSP00000361182.3:p.Gly201Ser
ENST00000372115.7:c.598G>A	ENSP00000361187.3:p.Gly200Ser
ENST00000412971.5:c.172G>A	ENSP00000410263.1:p.Gly58Ser
ENST00000435155.1:c.589G>A	ENSP00000403655.1:p.Gly197Ser
ENST00000448481.5:c.589G>A	ENSP00000409718.1:p.Gly197Ser
ENST00000450313.5:c.640G>A	ENSP00000408176.1:p.Gly214Ser
ENST00000456914.6:c.556G>A	ENSP00000407590.2:p.Gly186Ser
ENST00000461495.5:c.*295G>A	ENSP00000437166.1:n.*295G>A
ENST00000462388.5:n.247G>A
ENST00000467940.5:c.*479G>A	ENSP00000436478.1:n.*479G>A
ENST00000470256.5:c.443G>A	ENSP00000434985.1:p.Trp148Ter
ENST00000475516.5:c.*369G>A	ENSP00000433843.1:n.*369G>A
ENST00000478796.5:n.543G>A
ENST00000479746.6:n.914G>A
ENST00000481571.5:c.*369G>A	ENSP00000436597.1:n.*369G>A
ENST00000483642.5:n.1071G>A
ENST00000488731.6:c.187+139G>A	ENSP00000432330.1:n.187+139G>A
ENST00000492494.5:n.953G>A
ENST00000525160.5:c.*207G>A	ENSP00000431568.1:n.*207G>A
ENST00000528013.6:c.598G>A	ENSP00000433130.2:p.Gly200Ser
ENST00000529984.5:c.187+139G>A	ENSP00000437093.1:n.187+139G>A
ENST00000531105.5:c.115+1767G>A	ENSP00000431292.1:n.115+1767G>A
ENST00000533178.5:c.185G>A	ENSP00000436430.1:p.Trp62Ter
NM_001048171.1:c.598G>A	NP_001041636.1:p.Gly200Ser
NM_001048172.1:c.559G>A	NP_001041637.1:p.Gly187Ser
NM_001048173.1:c.556G>A	NP_001041638.1:p.Gly186Ser
NM_001048174.1:c.556G>A	NP_001041639.1:p.Gly186Ser
NM_001128425.1:c.640G>A , LRG_220t1:c.640G>A	NP_001121897.1:p.Gly214Ser
NM_001293190.1:c.601G>A	NP_001280119.1:p.Gly201Ser
NM_001293191.1:c.589G>A	NP_001280120.1:p.Gly197Ser
NM_001293192.1:c.280G>A	NP_001280121.1:p.Gly94Ser
NM_001293195.1:c.556G>A	NP_001280124.1:p.Gly186Ser
NM_001293196.1:c.280G>A	NP_001280125.1:p.Gly94Ser
NM_012222.2:c.631G>A	NP_036354.1:p.Gly211Ser
XM_011541497.1:c.616G>A	XP_011539799.1:p.Gly206Ser
XM_011541498.1:c.598G>A	XP_011539800.1:p.Gly200Ser
XM_011541499.1:c.598G>A	XP_011539801.1:p.Gly200Ser
XM_011541500.1:c.598G>A	XP_011539802.1:p.Gly200Ser
XM_011541501.1:c.598G>A	XP_011539803.1:p.Gly200Ser
XM_011541502.1:c.598G>A	XP_011539804.1:p.Gly200Ser
XM_011541503.1:c.598G>A	XP_011539805.1:p.Gly200Ser
XM_011541504.1:c.589G>A	XP_011539806.1:p.Gly197Ser
XM_011541505.1:c.178G>A	XP_011539807.1:p.Gly60Ser
XM_011541506.1:c.178G>A	XP_011539808.1:p.Gly60Ser
XM_011541507.1:c.169G>A	XP_011539809.1:p.Gly57Ser
XM_011541508.1:c.184G>A	XP_011539810.1:p.Gly62Ser
XR_946658.1:n.687G>A
NM_001350650.1:c.211G>A	NP_001337579.1:p.Gly71Ser
NM_001350651.1:c.211G>A	NP_001337580.1:p.Gly71Ser
NR_146882.1:n.814G>A
NR_146883.1:n.628G>A
XM_011541497.3:c.616G>A	XP_011539799.1:p.Gly206Ser
XM_011541500.3:c.598G>A	XP_011539802.1:p.Gly200Ser
XM_011541501.2:c.598G>A	XP_011539803.1:p.Gly200Ser
XM_011541502.2:c.598G>A	XP_011539804.1:p.Gly200Ser
XM_011541503.2:c.598G>A	XP_011539805.1:p.Gly200Ser
XM_011541504.2:c.589G>A	XP_011539806.1:p.Gly197Ser
XM_011541505.2:c.178G>A	XP_011539807.1:p.Gly60Ser
XM_011541506.2:c.178G>A	XP_011539808.1:p.Gly60Ser
XM_017001331.1:c.598G>A	XP_016856820.1:p.Gly200Ser
XM_017001332.1:c.598G>A	XP_016856821.1:p.Gly200Ser
XM_017001333.1:c.598G>A	XP_016856822.1:p.Gly200Ser
XM_017001334.1:c.559G>A	XP_016856823.1:p.Gly187Ser
XM_017001335.1:c.280G>A	XP_016856824.1:p.Gly94Ser
XM_017001336.1:c.211G>A	XP_016856825.1:p.Gly71Ser
XM_017001337.1:c.211G>A	XP_016856826.1:p.Gly71Ser
XM_024447244.1:c.211G>A	XP_024303012.1:p.Gly71Ser
XM_024447245.1:c.211G>A	XP_024303013.1:p.Gly71Ser
XM_024447248.1:c.169G>A	XP_024303016.1:p.Gly57Ser
XM_024447249.1:c.40G>A	XP_024303017.1:p.Gly14Ser
XM_024447250.1:c.40G>A	XP_024303018.1:p.Gly14Ser
XM_024447251.1:c.40G>A	XP_024303019.1:p.Gly14Ser
XR_001737190.1:n.601G>A
XR_001737192.1:n.413G>A
XR_002956643.1:n.593G>A
XR_002956644.1:n.1128G>A
XR_946658.2:n.701G>A
NM_001048171.2:c.556G>A	NP_001041636.2:p.Gly186Ser
NM_001128425.2:c.640G>A MANE Plus Clinical	NP_001121897.1:p.Gly214Ser
NM_001048172.2:c.559G>A	NP_001041637.1:p.Gly187Ser
NM_001048173.2:c.556G>A	NP_001041638.1:p.Gly186Ser
NM_001048174.2:c.556G>A MANE Select	NP_001041639.1:p.Gly186Ser
NM_001293190.2:c.601G>A	NP_001280119.1:p.Gly201Ser
NM_001293191.2:c.589G>A	NP_001280120.1:p.Gly197Ser
NM_001293192.2:c.280G>A	NP_001280121.1:p.Gly94Ser
NM_001293195.2:c.556G>A	NP_001280124.1:p.Gly186Ser
NM_001293196.2:c.280G>A	NP_001280125.1:p.Gly94Ser
NM_001350650.2:c.211G>A	NP_001337579.1:p.Gly71Ser
NM_001350651.2:c.211G>A	NP_001337580.1:p.Gly71Ser
NM_012222.3:c.631G>A	NP_036354.1:p.Gly211Ser
NR_146882.2:n.784G>A
NR_146883.2:n.633G>A