Canonical Allele Identifier: CA340134153

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 659323
• ClinVar RCV Id: RCV002381834
• dbSNP Id: rs1570395209
• gnomAD v4: 1-45332064-G-A
• MyVariant Identifiers: chr1:g.45797736G>A (hg19) ; chr1:g.45332064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332064G>A , CM000663.2:g.45332064G>A	GRCh38
NC_000001.10:g.45797736G>A , CM000663.1:g.45797736G>A	GRCh37
NC_000001.9:g.45570323G>A	NCBI36
NG_008189.1:g.13407C>T , LRG_220:g.13407C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.488C>T	ENSP00000410263.2:p.Ala163Val
ENST00000435155.2:c.905C>T	ENSP00000403655.2:p.Ala302Val
ENST00000467459.6:c.872C>T	ENSP00000435889.2:p.Ala291Val
ENST00000483127.2:c.890C>T	ENSP00000436469.2:p.Ala297Val
ENST00000485271.6:c.872C>T	ENSP00000431264.2:p.Ala291Val
ENST00000529892.6:c.914C>T	ENSP00000432528.2:p.Ala305Val
ENST00000533178.6:c.*201C>T	ENSP00000436430.2:n.*201C>T
ENST00000672314.2:c.872C>T	ENSP00000500828.2:p.Ala291Val
ENST00000710952.2:c.956C>T MANE Plus Clinical	ENSP00000518552.2:p.Ala319Val
ENST00000672818.3:c.947C>T	ENSP00000500891.1:p.Ala316Val
ENST00000456914.7:c.872C>T MANE Select	ENSP00000407590.2:p.Ala291Val
ENST00000461495.6:c.*611C>T	ENSP00000437166.1:n.*611C>T
ENST00000671898.1:c.1460C>T	ENSP00000499896.1:p.Ala487Val
ENST00000672011.1:c.*201C>T	ENSP00000500418.1:n.*201C>T
ENST00000672314.1:c.872C>T	ENSP00000500828.1:p.Ala291Val
ENST00000672593.1:c.*925C>T	ENSP00000500455.1:n.*925C>T
ENST00000672764.1:c.*201C>T	ENSP00000500886.1:n.*201C>T
ENST00000672818.2:c.947C>T	ENSP00000500891.1:p.Ala316Val
ENST00000673134.1:c.*569C>T	ENSP00000500526.1:n.*569C>T
ENST00000354383.10:c.875C>T	ENSP00000346354.6:p.Ala292Val
ENST00000355498.6:c.872C>T	ENSP00000347685.2:p.Ala291Val
ENST00000372098.7:c.947C>T	ENSP00000361170.3:p.Ala316Val
ENST00000372104.5:c.872C>T	ENSP00000361176.1:p.Ala291Val
ENST00000372110.7:c.917C>T	ENSP00000361182.3:p.Ala306Val
ENST00000372115.7:c.914C>T	ENSP00000361187.3:p.Ala305Val
ENST00000412971.5:c.488C>T	ENSP00000410263.1:p.Ala163Val
ENST00000448481.5:c.905C>T	ENSP00000409718.1:p.Ala302Val
ENST00000450313.5:c.956C>T	ENSP00000408176.1:p.Ala319Val
ENST00000456914.6:c.872C>T	ENSP00000407590.2:p.Ala291Val
ENST00000461495.5:c.*611C>T	ENSP00000437166.1:n.*611C>T
ENST00000462388.5:n.563C>T
ENST00000466231.1:n.237C>T
ENST00000467459.5:c.266C>T	ENSP00000435889.1:p.Ala89Val
ENST00000470256.5:c.*201C>T	ENSP00000434985.1:n.*201C>T
ENST00000475516.5:c.*685C>T	ENSP00000433843.1:n.*685C>T
ENST00000481571.5:c.*685C>T	ENSP00000436597.1:n.*685C>T
ENST00000482094.5:n.20C>T
ENST00000488731.6:c.188-508C>T	ENSP00000432330.1:n.188-508C>T
ENST00000528013.6:c.914C>T	ENSP00000433130.2:p.Ala305Val
ENST00000529892.5:c.136C>T
ENST00000529984.5:c.188-508C>T	ENSP00000437093.1:n.188-508C>T
ENST00000531105.5:c.115+2327C>T	ENSP00000431292.1:n.115+2327C>T
ENST00000533178.5:c.501C>T	ENSP00000436430.1:n.501C>T
NM_001048171.1:c.914C>T	NP_001041636.1:p.Ala305Val
NM_001048172.1:c.875C>T	NP_001041637.1:p.Ala292Val
NM_001048173.1:c.872C>T	NP_001041638.1:p.Ala291Val
NM_001048174.1:c.872C>T	NP_001041639.1:p.Ala291Val
NM_001128425.1:c.956C>T , LRG_220t1:c.956C>T	NP_001121897.1:p.Ala319Val
NM_001293190.1:c.917C>T	NP_001280119.1:p.Ala306Val
NM_001293191.1:c.905C>T	NP_001280120.1:p.Ala302Val
NM_001293192.1:c.596C>T	NP_001280121.1:p.Ala199Val
NM_001293195.1:c.872C>T	NP_001280124.1:p.Ala291Val
NM_001293196.1:c.596C>T	NP_001280125.1:p.Ala199Val
NM_012222.2:c.947C>T	NP_036354.1:p.Ala316Val
XM_011541497.1:c.932C>T	XP_011539799.1:p.Ala311Val
XM_011541498.1:c.914C>T	XP_011539800.1:p.Ala305Val
XM_011541499.1:c.914C>T	XP_011539801.1:p.Ala305Val
XM_011541500.1:c.914C>T	XP_011539802.1:p.Ala305Val
XM_011541501.1:c.914C>T	XP_011539803.1:p.Ala305Val
XM_011541502.1:c.914C>T	XP_011539804.1:p.Ala305Val
XM_011541503.1:c.914C>T	XP_011539805.1:p.Ala305Val
XM_011541504.1:c.905C>T	XP_011539806.1:p.Ala302Val
XM_011541505.1:c.494C>T	XP_011539807.1:p.Ala165Val
XM_011541506.1:c.494C>T	XP_011539808.1:p.Ala165Val
XM_011541507.1:c.485C>T	XP_011539809.1:p.Ala162Val
XM_011541508.1:c.500C>T	XP_011539810.1:p.Ala167Val
XR_946658.1:n.1003C>T
NM_001350650.1:c.527C>T	NP_001337579.1:p.Ala176Val
NM_001350651.1:c.527C>T	NP_001337580.1:p.Ala176Val
NR_146882.1:n.1130C>T
NR_146883.1:n.944C>T
XM_011541497.3:c.932C>T	XP_011539799.1:p.Ala311Val
XM_011541500.3:c.914C>T	XP_011539802.1:p.Ala305Val
XM_011541501.2:c.914C>T	XP_011539803.1:p.Ala305Val
XM_011541502.2:c.914C>T	XP_011539804.1:p.Ala305Val
XM_011541503.2:c.914C>T	XP_011539805.1:p.Ala305Val
XM_011541504.2:c.905C>T	XP_011539806.1:p.Ala302Val
XM_011541505.2:c.494C>T	XP_011539807.1:p.Ala165Val
XM_011541506.2:c.494C>T	XP_011539808.1:p.Ala165Val
XM_017001331.1:c.914C>T	XP_016856820.1:p.Ala305Val
XM_017001332.1:c.914C>T	XP_016856821.1:p.Ala305Val
XM_017001333.1:c.914C>T	XP_016856822.1:p.Ala305Val
XM_017001334.1:c.875C>T	XP_016856823.1:p.Ala292Val
XM_017001335.1:c.596C>T	XP_016856824.1:p.Ala199Val
XM_017001336.1:c.527C>T	XP_016856825.1:p.Ala176Val
XM_017001337.1:c.527C>T	XP_016856826.1:p.Ala176Val
XM_024447244.1:c.527C>T	XP_024303012.1:p.Ala176Val
XM_024447245.1:c.527C>T	XP_024303013.1:p.Ala176Val
XM_024447248.1:c.485C>T	XP_024303016.1:p.Ala162Val
XM_024447249.1:c.356C>T	XP_024303017.1:p.Ala119Val
XM_024447250.1:c.356C>T	XP_024303018.1:p.Ala119Val
XM_024447251.1:c.356C>T	XP_024303019.1:p.Ala119Val
XR_001737190.1:n.917C>T
XR_001737192.1:n.729C>T
XR_002956643.1:n.909C>T
XR_002956644.1:n.1444C>T
XR_946658.2:n.1017C>T
NM_001048171.2:c.872C>T	NP_001041636.2:p.Ala291Val
NM_001128425.2:c.956C>T MANE Plus Clinical	NP_001121897.1:p.Ala319Val
NM_001048172.2:c.875C>T	NP_001041637.1:p.Ala292Val
NM_001048173.2:c.872C>T	NP_001041638.1:p.Ala291Val
NM_001048174.2:c.872C>T MANE Select	NP_001041639.1:p.Ala291Val
NM_001293190.2:c.917C>T	NP_001280119.1:p.Ala306Val
NM_001293191.2:c.905C>T	NP_001280120.1:p.Ala302Val
NM_001293192.2:c.596C>T	NP_001280121.1:p.Ala199Val
NM_001293195.2:c.872C>T	NP_001280124.1:p.Ala291Val
NM_001293196.2:c.596C>T	NP_001280125.1:p.Ala199Val
NM_001350650.2:c.527C>T	NP_001337579.1:p.Ala176Val
NM_001350651.2:c.527C>T	NP_001337580.1:p.Ala176Val
NM_012222.3:c.947C>T	NP_036354.1:p.Ala316Val
NR_146882.2:n.1100C>T
NR_146883.2:n.949C>T