Canonical Allele Identifier: CA340134652

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 480014
• ClinVar RCV Id: RCV000574062 ; RCV000816254
• dbSNP Id: rs1553127779
• MyVariant Identifiers: chr1:g.45797942C>A (hg19) ; chr1:g.45332270C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332270C>A , CM000663.2:g.45332270C>A	GRCh38
NC_000001.10:g.45797942C>A , CM000663.1:g.45797942C>A	GRCh37
NC_000001.9:g.45570529C>A	NCBI36
NG_008189.1:g.13201G>T , LRG_220:g.13201G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.361G>T	ENSP00000410263.2:p.Asp121Tyr
ENST00000435155.2:c.778G>T	ENSP00000403655.2:p.Asp260Tyr
ENST00000467459.6:c.745G>T	ENSP00000435889.2:p.Asp249Tyr
ENST00000483127.2:c.763G>T	ENSP00000436469.2:p.Asp255Tyr
ENST00000485271.6:c.745G>T	ENSP00000431264.2:p.Asp249Tyr
ENST00000529892.6:c.787G>T	ENSP00000432528.2:p.Asp263Tyr
ENST00000533178.6:c.*74G>T	ENSP00000436430.2:n.*74G>T
ENST00000672314.2:c.745G>T	ENSP00000500828.2:p.Asp249Tyr
ENST00000674679.2:c.*657G>T	ENSP00000501623.2:n.*657G>T
ENST00000710952.2:c.829G>T MANE Plus Clinical	ENSP00000518552.2:p.Asp277Tyr
ENST00000672818.3:c.820G>T	ENSP00000500891.1:p.Asp274Tyr
ENST00000450313.6:c.*74G>T	ENSP00000408176.2:n.*74G>T
ENST00000456914.7:c.745G>T MANE Select	ENSP00000407590.2:p.Asp249Tyr
ENST00000461495.6:c.*484G>T	ENSP00000437166.1:n.*484G>T
ENST00000671898.1:c.1333G>T	ENSP00000499896.1:p.Asp445Tyr
ENST00000672011.1:c.*74G>T	ENSP00000500418.1:n.*74G>T
ENST00000672314.1:c.745G>T	ENSP00000500828.1:p.Asp249Tyr
ENST00000672593.1:c.*798G>T	ENSP00000500455.1:n.*798G>T
ENST00000672764.1:c.*74G>T	ENSP00000500886.1:n.*74G>T
ENST00000672818.2:c.820G>T	ENSP00000500891.1:p.Asp274Tyr
ENST00000673134.1:c.*442G>T	ENSP00000500526.1:n.*442G>T
ENST00000674679.1:c.773G>T	ENSP00000501623.1:n.773G>T
ENST00000354383.10:c.748G>T	ENSP00000346354.6:p.Asp250Tyr
ENST00000355498.6:c.745G>T	ENSP00000347685.2:p.Asp249Tyr
ENST00000372098.7:c.820G>T	ENSP00000361170.3:p.Asp274Tyr
ENST00000372104.5:c.745G>T	ENSP00000361176.1:p.Asp249Tyr
ENST00000372110.7:c.790G>T	ENSP00000361182.3:p.Asp264Tyr
ENST00000372115.7:c.787G>T	ENSP00000361187.3:p.Asp263Tyr
ENST00000412971.5:c.361G>T	ENSP00000410263.1:p.Asp121Tyr
ENST00000435155.1:c.778G>T	ENSP00000403655.1:p.Asp260Tyr
ENST00000448481.5:c.778G>T	ENSP00000409718.1:p.Asp260Tyr
ENST00000450313.5:c.829G>T	ENSP00000408176.1:p.Asp277Tyr
ENST00000456914.6:c.745G>T	ENSP00000407590.2:p.Asp249Tyr
ENST00000461495.5:c.*484G>T	ENSP00000437166.1:n.*484G>T
ENST00000462388.5:n.436G>T
ENST00000466231.1:n.110G>T
ENST00000467459.5:c.139G>T	ENSP00000435889.1:p.Asp47Tyr
ENST00000467940.5:c.*668G>T	ENSP00000436478.1:n.*668G>T
ENST00000470256.5:c.*74G>T	ENSP00000434985.1:n.*74G>T
ENST00000475516.5:c.*558G>T	ENSP00000433843.1:n.*558G>T
ENST00000478796.5:n.732G>T
ENST00000481571.5:c.*558G>T	ENSP00000436597.1:n.*558G>T
ENST00000488731.6:c.187+493G>T	ENSP00000432330.1:n.187+493G>T
ENST00000528013.6:c.787G>T	ENSP00000433130.2:p.Asp263Tyr
ENST00000529892.5:c.9G>T
ENST00000529984.5:c.187+493G>T	ENSP00000437093.1:n.187+493G>T
ENST00000531105.5:c.115+2121G>T	ENSP00000431292.1:n.115+2121G>T
ENST00000533178.5:c.374G>T	ENSP00000436430.1:n.374G>T
NM_001048171.1:c.787G>T	NP_001041636.1:p.Asp263Tyr
NM_001048172.1:c.748G>T	NP_001041637.1:p.Asp250Tyr
NM_001048173.1:c.745G>T	NP_001041638.1:p.Asp249Tyr
NM_001048174.1:c.745G>T	NP_001041639.1:p.Asp249Tyr
NM_001128425.1:c.829G>T , LRG_220t1:c.829G>T	NP_001121897.1:p.Asp277Tyr
NM_001293190.1:c.790G>T	NP_001280119.1:p.Asp264Tyr
NM_001293191.1:c.778G>T	NP_001280120.1:p.Asp260Tyr
NM_001293192.1:c.469G>T	NP_001280121.1:p.Asp157Tyr
NM_001293195.1:c.745G>T	NP_001280124.1:p.Asp249Tyr
NM_001293196.1:c.469G>T	NP_001280125.1:p.Asp157Tyr
NM_012222.2:c.820G>T	NP_036354.1:p.Asp274Tyr
XM_011541497.1:c.805G>T	XP_011539799.1:p.Asp269Tyr
XM_011541498.1:c.787G>T	XP_011539800.1:p.Asp263Tyr
XM_011541499.1:c.787G>T	XP_011539801.1:p.Asp263Tyr
XM_011541500.1:c.787G>T	XP_011539802.1:p.Asp263Tyr
XM_011541501.1:c.787G>T	XP_011539803.1:p.Asp263Tyr
XM_011541502.1:c.787G>T	XP_011539804.1:p.Asp263Tyr
XM_011541503.1:c.787G>T	XP_011539805.1:p.Asp263Tyr
XM_011541504.1:c.778G>T	XP_011539806.1:p.Asp260Tyr
XM_011541505.1:c.367G>T	XP_011539807.1:p.Asp123Tyr
XM_011541506.1:c.367G>T	XP_011539808.1:p.Asp123Tyr
XM_011541507.1:c.358G>T	XP_011539809.1:p.Asp120Tyr
XM_011541508.1:c.373G>T	XP_011539810.1:p.Asp125Tyr
XR_946658.1:n.876G>T
NM_001350650.1:c.400G>T	NP_001337579.1:p.Asp134Tyr
NM_001350651.1:c.400G>T	NP_001337580.1:p.Asp134Tyr
NR_146882.1:n.1003G>T
NR_146883.1:n.817G>T
XM_011541497.3:c.805G>T	XP_011539799.1:p.Asp269Tyr
XM_011541500.3:c.787G>T	XP_011539802.1:p.Asp263Tyr
XM_011541501.2:c.787G>T	XP_011539803.1:p.Asp263Tyr
XM_011541502.2:c.787G>T	XP_011539804.1:p.Asp263Tyr
XM_011541503.2:c.787G>T	XP_011539805.1:p.Asp263Tyr
XM_011541504.2:c.778G>T	XP_011539806.1:p.Asp260Tyr
XM_011541505.2:c.367G>T	XP_011539807.1:p.Asp123Tyr
XM_011541506.2:c.367G>T	XP_011539808.1:p.Asp123Tyr
XM_017001331.1:c.787G>T	XP_016856820.1:p.Asp263Tyr
XM_017001332.1:c.787G>T	XP_016856821.1:p.Asp263Tyr
XM_017001333.1:c.787G>T	XP_016856822.1:p.Asp263Tyr
XM_017001334.1:c.748G>T	XP_016856823.1:p.Asp250Tyr
XM_017001335.1:c.469G>T	XP_016856824.1:p.Asp157Tyr
XM_017001336.1:c.400G>T	XP_016856825.1:p.Asp134Tyr
XM_017001337.1:c.400G>T	XP_016856826.1:p.Asp134Tyr
XM_024447244.1:c.400G>T	XP_024303012.1:p.Asp134Tyr
XM_024447245.1:c.400G>T	XP_024303013.1:p.Asp134Tyr
XM_024447248.1:c.358G>T	XP_024303016.1:p.Asp120Tyr
XM_024447249.1:c.229G>T	XP_024303017.1:p.Asp77Tyr
XM_024447250.1:c.229G>T	XP_024303018.1:p.Asp77Tyr
XM_024447251.1:c.229G>T	XP_024303019.1:p.Asp77Tyr
XR_001737190.1:n.790G>T
XR_001737192.1:n.602G>T
XR_002956643.1:n.782G>T
XR_002956644.1:n.1317G>T
XR_946658.2:n.890G>T
NM_001048171.2:c.745G>T	NP_001041636.2:p.Asp249Tyr
NM_001128425.2:c.829G>T MANE Plus Clinical	NP_001121897.1:p.Asp277Tyr
NM_001048172.2:c.748G>T	NP_001041637.1:p.Asp250Tyr
NM_001048173.2:c.745G>T	NP_001041638.1:p.Asp249Tyr
NM_001048174.2:c.745G>T MANE Select	NP_001041639.1:p.Asp249Tyr
NM_001293190.2:c.790G>T	NP_001280119.1:p.Asp264Tyr
NM_001293191.2:c.778G>T	NP_001280120.1:p.Asp260Tyr
NM_001293192.2:c.469G>T	NP_001280121.1:p.Asp157Tyr
NM_001293195.2:c.745G>T	NP_001280124.1:p.Asp249Tyr
NM_001293196.2:c.469G>T	NP_001280125.1:p.Asp157Tyr
NM_001350650.2:c.400G>T	NP_001337579.1:p.Asp134Tyr
NM_001350651.2:c.400G>T	NP_001337580.1:p.Asp134Tyr
NM_012222.3:c.820G>T	NP_036354.1:p.Asp274Tyr
NR_146882.2:n.973G>T
NR_146883.2:n.822G>T