Canonical Allele Identifier: CA340135327

Gene: MUTYH

Linked Data

• gnomAD v4: 1-45332611-T-G
• MyVariant Identifiers: chr1:g.45798283T>G (hg19) ; chr1:g.45332611T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332611T>G , CM000663.2:g.45332611T>G	GRCh38
NC_000001.10:g.45798283T>G , CM000663.1:g.45798283T>G	GRCh37
NC_000001.9:g.45570870T>G	NCBI36
NG_008189.1:g.12860A>C , LRG_220:g.12860A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.185A>C	ENSP00000410263.2:p.Tyr62Ser
ENST00000435155.2:c.602A>C	ENSP00000403655.2:p.Tyr201Ser
ENST00000467459.6:c.569A>C	ENSP00000435889.2:p.Tyr190Ser
ENST00000483127.2:c.587A>C	ENSP00000436469.2:p.Tyr196Ser
ENST00000485271.6:c.569A>C	ENSP00000431264.2:p.Tyr190Ser
ENST00000529892.6:c.611A>C	ENSP00000432528.2:p.Tyr204Ser
ENST00000533178.6:c.192A>C	ENSP00000436430.2:p.Leu64=
ENST00000672314.2:c.569A>C	ENSP00000500828.2:p.Tyr190Ser
ENST00000674679.2:c.*481A>C	ENSP00000501623.2:n.*481A>C
ENST00000710952.2:c.653A>C MANE Plus Clinical	ENSP00000518552.2:p.Tyr218Ser
ENST00000672818.3:c.644A>C	ENSP00000500891.1:p.Tyr215Ser
ENST00000450313.6:c.579A>C	ENSP00000408176.2:p.Leu193=
ENST00000456914.7:c.569A>C MANE Select	ENSP00000407590.2:p.Tyr190Ser
ENST00000461495.6:c.*308A>C	ENSP00000437166.1:n.*308A>C
ENST00000671856.1:n.515A>C
ENST00000671898.1:c.1157A>C	ENSP00000499896.1:p.Tyr386Ser
ENST00000672011.1:c.537A>C	ENSP00000500418.1:p.Leu179=
ENST00000672314.1:c.569A>C	ENSP00000500828.1:p.Tyr190Ser
ENST00000672593.1:c.*457A>C	ENSP00000500455.1:n.*457A>C
ENST00000672764.1:c.528A>C	ENSP00000500886.1:p.Leu176=
ENST00000672818.2:c.644A>C	ENSP00000500891.1:p.Tyr215Ser
ENST00000673134.1:c.*266A>C	ENSP00000500526.1:n.*266A>C
ENST00000674679.1:c.597A>C	ENSP00000501623.1:n.597A>C
ENST00000354383.10:c.572A>C	ENSP00000346354.6:p.Tyr191Ser
ENST00000355498.6:c.569A>C	ENSP00000347685.2:p.Tyr190Ser
ENST00000372098.7:c.644A>C	ENSP00000361170.3:p.Tyr215Ser
ENST00000372104.5:c.569A>C	ENSP00000361176.1:p.Tyr190Ser
ENST00000372110.7:c.614A>C	ENSP00000361182.3:p.Tyr205Ser
ENST00000372115.7:c.611A>C	ENSP00000361187.3:p.Tyr204Ser
ENST00000412971.5:c.185A>C	ENSP00000410263.1:p.Tyr62Ser
ENST00000435155.1:c.602A>C	ENSP00000403655.1:p.Tyr201Ser
ENST00000448481.5:c.602A>C	ENSP00000409718.1:p.Tyr201Ser
ENST00000450313.5:c.653A>C	ENSP00000408176.1:p.Tyr218Ser
ENST00000456914.6:c.569A>C	ENSP00000407590.2:p.Tyr190Ser
ENST00000461495.5:c.*308A>C	ENSP00000437166.1:n.*308A>C
ENST00000462388.5:n.260A>C
ENST00000467940.5:c.*492A>C	ENSP00000436478.1:n.*492A>C
ENST00000470256.5:c.456A>C	ENSP00000434985.1:p.Leu152=
ENST00000475516.5:c.*382A>C	ENSP00000433843.1:n.*382A>C
ENST00000478796.5:n.556A>C
ENST00000479746.6:n.927A>C
ENST00000481571.5:c.*382A>C	ENSP00000436597.1:n.*382A>C
ENST00000488731.6:c.187+152A>C	ENSP00000432330.1:n.187+152A>C
ENST00000492494.5:n.966A>C
ENST00000525160.5:c.*220A>C	ENSP00000431568.1:n.*220A>C
ENST00000528013.6:c.611A>C	ENSP00000433130.2:p.Tyr204Ser
ENST00000529984.5:c.187+152A>C	ENSP00000437093.1:n.187+152A>C
ENST00000531105.5:c.115+1780A>C	ENSP00000431292.1:n.115+1780A>C
ENST00000533178.5:c.198A>C	ENSP00000436430.1:p.Leu66=
NM_001048171.1:c.611A>C	NP_001041636.1:p.Tyr204Ser
NM_001048172.1:c.572A>C	NP_001041637.1:p.Tyr191Ser
NM_001048173.1:c.569A>C	NP_001041638.1:p.Tyr190Ser
NM_001048174.1:c.569A>C	NP_001041639.1:p.Tyr190Ser
NM_001128425.1:c.653A>C , LRG_220t1:c.653A>C	NP_001121897.1:p.Tyr218Ser
NM_001293190.1:c.614A>C	NP_001280119.1:p.Tyr205Ser
NM_001293191.1:c.602A>C	NP_001280120.1:p.Tyr201Ser
NM_001293192.1:c.293A>C	NP_001280121.1:p.Tyr98Ser
NM_001293195.1:c.569A>C	NP_001280124.1:p.Tyr190Ser
NM_001293196.1:c.293A>C	NP_001280125.1:p.Tyr98Ser
NM_012222.2:c.644A>C	NP_036354.1:p.Tyr215Ser
XM_011541497.1:c.629A>C	XP_011539799.1:p.Tyr210Ser
XM_011541498.1:c.611A>C	XP_011539800.1:p.Tyr204Ser
XM_011541499.1:c.611A>C	XP_011539801.1:p.Tyr204Ser
XM_011541500.1:c.611A>C	XP_011539802.1:p.Tyr204Ser
XM_011541501.1:c.611A>C	XP_011539803.1:p.Tyr204Ser
XM_011541502.1:c.611A>C	XP_011539804.1:p.Tyr204Ser
XM_011541503.1:c.611A>C	XP_011539805.1:p.Tyr204Ser
XM_011541504.1:c.602A>C	XP_011539806.1:p.Tyr201Ser
XM_011541505.1:c.191A>C	XP_011539807.1:p.Tyr64Ser
XM_011541506.1:c.191A>C	XP_011539808.1:p.Tyr64Ser
XM_011541507.1:c.182A>C	XP_011539809.1:p.Tyr61Ser
XM_011541508.1:c.197A>C	XP_011539810.1:p.Tyr66Ser
XR_946658.1:n.700A>C
NM_001350650.1:c.224A>C	NP_001337579.1:p.Tyr75Ser
NM_001350651.1:c.224A>C	NP_001337580.1:p.Tyr75Ser
NR_146882.1:n.827A>C
NR_146883.1:n.641A>C
XM_011541497.3:c.629A>C	XP_011539799.1:p.Tyr210Ser
XM_011541500.3:c.611A>C	XP_011539802.1:p.Tyr204Ser
XM_011541501.2:c.611A>C	XP_011539803.1:p.Tyr204Ser
XM_011541502.2:c.611A>C	XP_011539804.1:p.Tyr204Ser
XM_011541503.2:c.611A>C	XP_011539805.1:p.Tyr204Ser
XM_011541504.2:c.602A>C	XP_011539806.1:p.Tyr201Ser
XM_011541505.2:c.191A>C	XP_011539807.1:p.Tyr64Ser
XM_011541506.2:c.191A>C	XP_011539808.1:p.Tyr64Ser
XM_017001331.1:c.611A>C	XP_016856820.1:p.Tyr204Ser
XM_017001332.1:c.611A>C	XP_016856821.1:p.Tyr204Ser
XM_017001333.1:c.611A>C	XP_016856822.1:p.Tyr204Ser
XM_017001334.1:c.572A>C	XP_016856823.1:p.Tyr191Ser
XM_017001335.1:c.293A>C	XP_016856824.1:p.Tyr98Ser
XM_017001336.1:c.224A>C	XP_016856825.1:p.Tyr75Ser
XM_017001337.1:c.224A>C	XP_016856826.1:p.Tyr75Ser
XM_024447244.1:c.224A>C	XP_024303012.1:p.Tyr75Ser
XM_024447245.1:c.224A>C	XP_024303013.1:p.Tyr75Ser
XM_024447248.1:c.182A>C	XP_024303016.1:p.Tyr61Ser
XM_024447249.1:c.53A>C	XP_024303017.1:p.Tyr18Ser
XM_024447250.1:c.53A>C	XP_024303018.1:p.Tyr18Ser
XM_024447251.1:c.53A>C	XP_024303019.1:p.Tyr18Ser
XR_001737190.1:n.614A>C
XR_001737192.1:n.426A>C
XR_002956643.1:n.606A>C
XR_002956644.1:n.1141A>C
XR_946658.2:n.714A>C
NM_001048171.2:c.569A>C	NP_001041636.2:p.Tyr190Ser
NM_001128425.2:c.653A>C MANE Plus Clinical	NP_001121897.1:p.Tyr218Ser
NM_001048172.2:c.572A>C	NP_001041637.1:p.Tyr191Ser
NM_001048173.2:c.569A>C	NP_001041638.1:p.Tyr190Ser
NM_001048174.2:c.569A>C MANE Select	NP_001041639.1:p.Tyr190Ser
NM_001293190.2:c.614A>C	NP_001280119.1:p.Tyr205Ser
NM_001293191.2:c.602A>C	NP_001280120.1:p.Tyr201Ser
NM_001293192.2:c.293A>C	NP_001280121.1:p.Tyr98Ser
NM_001293195.2:c.569A>C	NP_001280124.1:p.Tyr190Ser
NM_001293196.2:c.293A>C	NP_001280125.1:p.Tyr98Ser
NM_001350650.2:c.224A>C	NP_001337579.1:p.Tyr75Ser
NM_001350651.2:c.224A>C	NP_001337580.1:p.Tyr75Ser
NM_012222.3:c.644A>C	NP_036354.1:p.Tyr215Ser
NR_146882.2:n.797A>C
NR_146883.2:n.646A>C