Canonical Allele Identifier: CA658656925

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 480013
• ClinVar RCV Id: RCV000563766 ; RCV003505120
• dbSNP Id: rs1553128253
• MyVariant Identifiers: chr1:g.45798163G>A (hg19) ; chr1:g.45332491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332491G>A , CM000663.2:g.45332491G>A	GRCh38
NC_000001.10:g.45798163G>A , CM000663.1:g.45798163G>A	GRCh37
NC_000001.9:g.45570750G>A	NCBI36
NG_008189.1:g.12980C>T , LRG_220:g.12980C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.223-3C>T	ENSP00000410263.2:n.223-3C>T
ENST00000435155.2:c.640-3C>T	ENSP00000403655.2:n.640-3C>T
ENST00000467459.6:c.607-3C>T	ENSP00000435889.2:n.607-3C>T
ENST00000483127.2:c.625-3C>T	ENSP00000436469.2:n.625-3C>T
ENST00000485271.6:c.607-3C>T	ENSP00000431264.2:n.607-3C>T
ENST00000529892.6:c.649-3C>T	ENSP00000432528.2:n.649-3C>T
ENST00000533178.6:c.230-3C>T	ENSP00000436430.2:n.230-3C>T
ENST00000672314.2:c.607-3C>T	ENSP00000500828.2:n.607-3C>T
ENST00000674679.2:c.*519-3C>T	ENSP00000501623.2:n.*519-3C>T
ENST00000710952.2:c.691-3C>T MANE Plus Clinical	ENSP00000518552.2:n.691-3C>T
ENST00000672818.3:c.682-3C>T	ENSP00000500891.1:n.682-3C>T
ENST00000450313.6:c.617-3C>T	ENSP00000408176.2:n.617-3C>T
ENST00000456914.7:c.607-3C>T MANE Select	ENSP00000407590.2:n.607-3C>T
ENST00000461495.6:c.*346-3C>T	ENSP00000437166.1:n.*346-3C>T
ENST00000671898.1:c.1195-3C>T	ENSP00000499896.1:n.1195-3C>T
ENST00000672011.1:c.575-3C>T	ENSP00000500418.1:n.575-3C>T
ENST00000672314.1:c.607-3C>T	ENSP00000500828.1:n.607-3C>T
ENST00000672593.1:c.*577C>T	ENSP00000500455.1:n.*577C>T
ENST00000672764.1:c.566-3C>T	ENSP00000500886.1:n.566-3C>T
ENST00000672818.2:c.682-3C>T	ENSP00000500891.1:n.682-3C>T
ENST00000673134.1:c.*304-3C>T	ENSP00000500526.1:n.*304-3C>T
ENST00000674679.1:c.635-3C>T	ENSP00000501623.1:n.635-3C>T
ENST00000354383.10:c.610-3C>T	ENSP00000346354.6:n.610-3C>T
ENST00000355498.6:c.607-3C>T	ENSP00000347685.2:n.607-3C>T
ENST00000372098.7:c.682-3C>T	ENSP00000361170.3:n.682-3C>T
ENST00000372104.5:c.607-3C>T	ENSP00000361176.1:n.607-3C>T
ENST00000372110.7:c.652-3C>T	ENSP00000361182.3:n.652-3C>T
ENST00000372115.7:c.649-3C>T	ENSP00000361187.3:n.649-3C>T
ENST00000412971.5:c.223-3C>T	ENSP00000410263.1:n.223-3C>T
ENST00000435155.1:c.640-3C>T	ENSP00000403655.1:n.640-3C>T
ENST00000448481.5:c.640-3C>T	ENSP00000409718.1:n.640-3C>T
ENST00000450313.5:c.691-3C>T	ENSP00000408176.1:n.691-3C>T
ENST00000456914.6:c.607-3C>T	ENSP00000407590.2:n.607-3C>T
ENST00000461495.5:c.*346-3C>T	ENSP00000437166.1:n.*346-3C>T
ENST00000462388.5:n.298-3C>T
ENST00000467940.5:c.*530-3C>T	ENSP00000436478.1:n.*530-3C>T
ENST00000470256.5:c.494-3C>T	ENSP00000434985.1:n.494-3C>T
ENST00000475516.5:c.*420-3C>T	ENSP00000433843.1:n.*420-3C>T
ENST00000478796.5:n.594-3C>T
ENST00000481571.5:c.*420-3C>T	ENSP00000436597.1:n.*420-3C>T
ENST00000488731.6:c.187+272C>T	ENSP00000432330.1:n.187+272C>T
ENST00000525160.5:c.*258-3C>T	ENSP00000431568.1:n.*258-3C>T
ENST00000528013.6:c.649-3C>T	ENSP00000433130.2:n.649-3C>T
ENST00000529984.5:c.187+272C>T	ENSP00000437093.1:n.187+272C>T
ENST00000531105.5:c.115+1900C>T	ENSP00000431292.1:n.115+1900C>T
ENST00000533178.5:c.236-3C>T	ENSP00000436430.1:n.236-3C>T
NM_001048171.1:c.649-3C>T	NP_001041636.1:n.649-3C>T
NM_001048172.1:c.610-3C>T	NP_001041637.1:n.610-3C>T
NM_001048173.1:c.607-3C>T	NP_001041638.1:n.607-3C>T
NM_001048174.1:c.607-3C>T	NP_001041639.1:n.607-3C>T
NM_001128425.1:c.691-3C>T , LRG_220t1:c.691-3C>T	NP_001121897.1:n.691-3C>T
NM_001293190.1:c.652-3C>T	NP_001280119.1:n.652-3C>T
NM_001293191.1:c.640-3C>T	NP_001280120.1:n.640-3C>T
NM_001293192.1:c.331-3C>T	NP_001280121.1:n.331-3C>T
NM_001293195.1:c.607-3C>T	NP_001280124.1:n.607-3C>T
NM_001293196.1:c.331-3C>T	NP_001280125.1:n.331-3C>T
NM_012222.2:c.682-3C>T	NP_036354.1:n.682-3C>T
XM_011541497.1:c.667-3C>T	XP_011539799.1:n.667-3C>T
XM_011541498.1:c.649-3C>T	XP_011539800.1:n.649-3C>T
XM_011541499.1:c.649-3C>T	XP_011539801.1:n.649-3C>T
XM_011541500.1:c.649-3C>T	XP_011539802.1:n.649-3C>T
XM_011541501.1:c.649-3C>T	XP_011539803.1:n.649-3C>T
XM_011541502.1:c.649-3C>T	XP_011539804.1:n.649-3C>T
XM_011541503.1:c.649-3C>T	XP_011539805.1:n.649-3C>T
XM_011541504.1:c.640-3C>T	XP_011539806.1:n.640-3C>T
XM_011541505.1:c.229-3C>T	XP_011539807.1:n.229-3C>T
XM_011541506.1:c.229-3C>T	XP_011539808.1:n.229-3C>T
XM_011541507.1:c.220-3C>T	XP_011539809.1:n.220-3C>T
XM_011541508.1:c.235-3C>T	XP_011539810.1:n.235-3C>T
XR_946658.1:n.738-3C>T
NM_001350650.1:c.262-3C>T	NP_001337579.1:n.262-3C>T
NM_001350651.1:c.262-3C>T	NP_001337580.1:n.262-3C>T
NR_146882.1:n.865-3C>T
NR_146883.1:n.679-3C>T
XM_011541497.3:c.667-3C>T	XP_011539799.1:n.667-3C>T
XM_011541500.3:c.649-3C>T	XP_011539802.1:n.649-3C>T
XM_011541501.2:c.649-3C>T	XP_011539803.1:n.649-3C>T
XM_011541502.2:c.649-3C>T	XP_011539804.1:n.649-3C>T
XM_011541503.2:c.649-3C>T	XP_011539805.1:n.649-3C>T
XM_011541504.2:c.640-3C>T	XP_011539806.1:n.640-3C>T
XM_011541505.2:c.229-3C>T	XP_011539807.1:n.229-3C>T
XM_011541506.2:c.229-3C>T	XP_011539808.1:n.229-3C>T
XM_017001331.1:c.649-3C>T	XP_016856820.1:n.649-3C>T
XM_017001332.1:c.649-3C>T	XP_016856821.1:n.649-3C>T
XM_017001333.1:c.649-3C>T	XP_016856822.1:n.649-3C>T
XM_017001334.1:c.610-3C>T	XP_016856823.1:n.610-3C>T
XM_017001335.1:c.331-3C>T	XP_016856824.1:n.331-3C>T
XM_017001336.1:c.262-3C>T	XP_016856825.1:n.262-3C>T
XM_017001337.1:c.262-3C>T	XP_016856826.1:n.262-3C>T
XM_024447244.1:c.262-3C>T	XP_024303012.1:n.262-3C>T
XM_024447245.1:c.262-3C>T	XP_024303013.1:n.262-3C>T
XM_024447248.1:c.220-3C>T	XP_024303016.1:n.220-3C>T
XM_024447249.1:c.91-3C>T	XP_024303017.1:n.91-3C>T
XM_024447250.1:c.91-3C>T	XP_024303018.1:n.91-3C>T
XM_024447251.1:c.91-3C>T	XP_024303019.1:n.91-3C>T
XR_001737190.1:n.652-3C>T
XR_001737192.1:n.464-3C>T
XR_002956643.1:n.644-3C>T
XR_002956644.1:n.1179-3C>T
XR_946658.2:n.752-3C>T
NM_001048171.2:c.607-3C>T	NP_001041636.2:n.607-3C>T
NM_001128425.2:c.691-3C>T MANE Plus Clinical	NP_001121897.1:n.691-3C>T
NM_001048172.2:c.610-3C>T	NP_001041637.1:n.610-3C>T
NM_001048173.2:c.607-3C>T	NP_001041638.1:n.607-3C>T
NM_001048174.2:c.607-3C>T MANE Select	NP_001041639.1:n.607-3C>T
NM_001293190.2:c.652-3C>T	NP_001280119.1:n.652-3C>T
NM_001293191.2:c.640-3C>T	NP_001280120.1:n.640-3C>T
NM_001293192.2:c.331-3C>T	NP_001280121.1:n.331-3C>T
NM_001293195.2:c.607-3C>T	NP_001280124.1:n.607-3C>T
NM_001293196.2:c.331-3C>T	NP_001280125.1:n.331-3C>T
NM_001350650.2:c.262-3C>T	NP_001337579.1:n.262-3C>T
NM_001350651.2:c.262-3C>T	NP_001337580.1:n.262-3C>T
NM_012222.3:c.682-3C>T	NP_036354.1:n.682-3C>T
NR_146882.2:n.835-3C>T
NR_146883.2:n.684-3C>T