Canonical Allele Identifier: CA340135760

Gene: MUTYH

Linked Data

• COSMIC: COSM3730781
• MyVariant Identifiers: chr1:g.45798483G>C (hg19) ; chr1:g.45332811G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332811G>C , CM000663.2:g.45332811G>C	GRCh38
NC_000001.10:g.45798483G>C , CM000663.1:g.45798483G>C	GRCh37
NC_000001.9:g.45571070G>C	NCBI36
NG_008189.1:g.12660C>G , LRG_220:g.12660C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.60C>G	ENSP00000410263.2:p.Gly20=
ENST00000435155.2:c.477C>G	ENSP00000403655.2:p.Gly159=
ENST00000467459.6:c.444C>G	ENSP00000435889.2:p.Gly148=
ENST00000483127.2:c.462C>G	ENSP00000436469.2:p.Gly154=
ENST00000485271.6:c.444C>G	ENSP00000431264.2:p.Gly148=
ENST00000529892.6:c.486C>G	ENSP00000432528.2:p.Gly162=
ENST00000533178.6:c.116-124C>G	ENSP00000436430.2:n.116-124C>G
ENST00000672314.2:c.444C>G	ENSP00000500828.2:p.Gly148=
ENST00000674679.2:c.*356C>G	ENSP00000501623.2:n.*356C>G
ENST00000710952.2:c.528C>G MANE Plus Clinical	ENSP00000518552.2:p.Gly176=
ENST00000672818.3:c.519C>G	ENSP00000500891.1:p.Gly173=
ENST00000450313.6:c.454C>G	ENSP00000408176.2:p.Pro152Ala
ENST00000456914.7:c.444C>G MANE Select	ENSP00000407590.2:p.Gly148=
ENST00000461495.6:c.*183C>G	ENSP00000437166.1:n.*183C>G
ENST00000671856.1:n.390C>G
ENST00000671898.1:c.1032C>G	ENSP00000499896.1:p.Gly344=
ENST00000672011.1:c.412C>G	ENSP00000500418.1:p.Pro138Ala
ENST00000672314.1:c.444C>G	ENSP00000500828.1:p.Gly148=
ENST00000672593.1:c.*257C>G	ENSP00000500455.1:n.*257C>G
ENST00000672764.1:c.403C>G	ENSP00000500886.1:p.Pro135Ala
ENST00000672818.2:c.519C>G	ENSP00000500891.1:p.Gly173=
ENST00000673134.1:c.*141C>G	ENSP00000500526.1:n.*141C>G
ENST00000674679.1:c.472C>G	ENSP00000501623.1:n.472C>G
ENST00000354383.10:c.447C>G	ENSP00000346354.6:p.Gly149=
ENST00000355498.6:c.444C>G	ENSP00000347685.2:p.Gly148=
ENST00000372098.7:c.519C>G	ENSP00000361170.3:p.Gly173=
ENST00000372104.5:c.444C>G	ENSP00000361176.1:p.Gly148=
ENST00000372110.7:c.489C>G	ENSP00000361182.3:p.Gly163=
ENST00000372115.7:c.486C>G	ENSP00000361187.3:p.Gly162=
ENST00000412971.5:c.60C>G	ENSP00000410263.1:p.Gly20=
ENST00000435155.1:c.477C>G	ENSP00000403655.1:p.Gly159=
ENST00000448481.5:c.477C>G	ENSP00000409718.1:p.Gly159=
ENST00000450313.5:c.528C>G	ENSP00000408176.1:p.Gly176=
ENST00000456914.6:c.444C>G	ENSP00000407590.2:p.Gly148=
ENST00000461495.5:c.*183C>G	ENSP00000437166.1:n.*183C>G
ENST00000462388.5:n.135C>G
ENST00000467940.5:c.*367C>G	ENSP00000436478.1:n.*367C>G
ENST00000470256.5:c.331C>G	ENSP00000434985.1:p.Pro111Ala
ENST00000475516.5:c.*257C>G	ENSP00000433843.1:n.*257C>G
ENST00000476789.5:n.884C>G
ENST00000478796.5:n.431C>G
ENST00000479746.6:n.727C>G
ENST00000481139.5:n.917C>G
ENST00000481571.5:c.*257C>G	ENSP00000436597.1:n.*257C>G
ENST00000483642.5:n.959C>G
ENST00000485484.5:n.745C>G
ENST00000488731.6:c.139C>G	ENSP00000432330.1:p.Pro47Ala
ENST00000492494.5:n.841C>G
ENST00000525160.5:c.*95C>G	ENSP00000431568.1:n.*95C>G
ENST00000528013.6:c.486C>G	ENSP00000433130.2:p.Gly162=
ENST00000529984.5:c.139C>G	ENSP00000437093.1:p.Pro47Ala
ENST00000531105.5:c.115+1580C>G	ENSP00000431292.1:n.115+1580C>G
ENST00000533178.5:c.122-124C>G	ENSP00000436430.1:n.122-124C>G
NM_001048171.1:c.486C>G	NP_001041636.1:p.Gly162=
NM_001048172.1:c.447C>G	NP_001041637.1:p.Gly149=
NM_001048173.1:c.444C>G	NP_001041638.1:p.Gly148=
NM_001048174.1:c.444C>G	NP_001041639.1:p.Gly148=
NM_001128425.1:c.528C>G , LRG_220t1:c.528C>G	NP_001121897.1:p.Gly176=
NM_001293190.1:c.489C>G	NP_001280119.1:p.Gly163=
NM_001293191.1:c.477C>G	NP_001280120.1:p.Gly159=
NM_001293192.1:c.168C>G	NP_001280121.1:p.Gly56=
NM_001293195.1:c.444C>G	NP_001280124.1:p.Gly148=
NM_001293196.1:c.168C>G	NP_001280125.1:p.Gly56=
NM_012222.2:c.519C>G	NP_036354.1:p.Gly173=
XM_011541497.1:c.504C>G	XP_011539799.1:p.Gly168=
XM_011541498.1:c.486C>G	XP_011539800.1:p.Gly162=
XM_011541499.1:c.486C>G	XP_011539801.1:p.Gly162=
XM_011541500.1:c.486C>G	XP_011539802.1:p.Gly162=
XM_011541501.1:c.486C>G	XP_011539803.1:p.Gly162=
XM_011541502.1:c.486C>G	XP_011539804.1:p.Gly162=
XM_011541503.1:c.486C>G	XP_011539805.1:p.Gly162=
XM_011541504.1:c.477C>G	XP_011539806.1:p.Gly159=
XM_011541505.1:c.66C>G	XP_011539807.1:p.Gly22=
XM_011541506.1:c.66C>G	XP_011539808.1:p.Gly22=
XM_011541507.1:c.57C>G	XP_011539809.1:p.Gly19=
XM_011541508.1:c.72C>G	XP_011539810.1:p.Gly24=
XR_946658.1:n.575C>G
NM_001350650.1:c.99C>G	NP_001337579.1:p.Gly33=
NM_001350651.1:c.99C>G	NP_001337580.1:p.Gly33=
NR_146882.1:n.702C>G
NR_146883.1:n.516C>G
XM_011541497.3:c.504C>G	XP_011539799.1:p.Gly168=
XM_011541500.3:c.486C>G	XP_011539802.1:p.Gly162=
XM_011541501.2:c.486C>G	XP_011539803.1:p.Gly162=
XM_011541502.2:c.486C>G	XP_011539804.1:p.Gly162=
XM_011541503.2:c.486C>G	XP_011539805.1:p.Gly162=
XM_011541504.2:c.477C>G	XP_011539806.1:p.Gly159=
XM_011541505.2:c.66C>G	XP_011539807.1:p.Gly22=
XM_011541506.2:c.66C>G	XP_011539808.1:p.Gly22=
XM_017001331.1:c.486C>G	XP_016856820.1:p.Gly162=
XM_017001332.1:c.486C>G	XP_016856821.1:p.Gly162=
XM_017001333.1:c.486C>G	XP_016856822.1:p.Gly162=
XM_017001334.1:c.447C>G	XP_016856823.1:p.Gly149=
XM_017001335.1:c.168C>G	XP_016856824.1:p.Gly56=
XM_017001336.1:c.99C>G	XP_016856825.1:p.Gly33=
XM_017001337.1:c.99C>G	XP_016856826.1:p.Gly33=
XM_024447244.1:c.99C>G	XP_024303012.1:p.Gly33=
XM_024447245.1:c.99C>G	XP_024303013.1:p.Gly33=
XM_024447248.1:c.57C>G	XP_024303016.1:p.Gly19=
XM_024447249.1:c.-73C>G	XP_024303017.1:n.-73C>G
XM_024447250.1:c.-73C>G	XP_024303018.1:n.-73C>G
XM_024447251.1:c.-73C>G	XP_024303019.1:n.-73C>G
XR_001737190.1:n.489C>G
XR_001737192.1:n.301C>G
XR_002956643.1:n.481C>G
XR_002956644.1:n.1016C>G
XR_946658.2:n.589C>G
NM_001048171.2:c.444C>G	NP_001041636.2:p.Gly148=
NM_001128425.2:c.528C>G MANE Plus Clinical	NP_001121897.1:p.Gly176=
NM_001048172.2:c.447C>G	NP_001041637.1:p.Gly149=
NM_001048173.2:c.444C>G	NP_001041638.1:p.Gly148=
NM_001048174.2:c.444C>G MANE Select	NP_001041639.1:p.Gly148=
NM_001293190.2:c.489C>G	NP_001280119.1:p.Gly163=
NM_001293191.2:c.477C>G	NP_001280120.1:p.Gly159=
NM_001293192.2:c.168C>G	NP_001280121.1:p.Gly56=
NM_001293195.2:c.444C>G	NP_001280124.1:p.Gly148=
NM_001293196.2:c.168C>G	NP_001280125.1:p.Gly56=
NM_001350650.2:c.99C>G	NP_001337579.1:p.Gly33=
NM_001350651.2:c.99C>G	NP_001337580.1:p.Gly33=
NM_012222.3:c.519C>G	NP_036354.1:p.Gly173=
NR_146882.2:n.672C>G
NR_146883.2:n.521C>G