Canonical Allele Identifier: CA16603709

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 379599
• ClinVar RCV Id: RCV001022814 ; RCV000417586 ; RCV000553473
• dbSNP Id: rs1057520660
• MyVariant Identifiers: chr1:g.45798632C>T (hg19) ; chr1:g.45332960C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332960C>T , CM000663.2:g.45332960C>T	GRCh38
NC_000001.10:g.45798632C>T , CM000663.1:g.45798632C>T	GRCh37
NC_000001.9:g.45571219C>T	NCBI36
NG_008189.1:g.12511G>A , LRG_220:g.12511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.37-126G>A	ENSP00000410263.2:n.37-126G>A
ENST00000435155.2:c.412-1G>A	ENSP00000403655.2:n.412-1G>A
ENST00000467459.6:c.379-1G>A	ENSP00000435889.2:n.379-1G>A
ENST00000483127.2:c.397-1G>A	ENSP00000436469.2:n.397-1G>A
ENST00000485271.6:c.379-1G>A	ENSP00000431264.2:n.379-1G>A
ENST00000529892.6:c.421-1G>A	ENSP00000432528.2:n.421-1G>A
ENST00000533178.6:c.116-273G>A	ENSP00000436430.2:n.116-273G>A
ENST00000672314.2:c.379-1G>A	ENSP00000500828.2:n.379-1G>A
ENST00000674679.2:c.*291-1G>A	ENSP00000501623.2:n.*291-1G>A
ENST00000710952.2:c.463-1G>A MANE Plus Clinical	ENSP00000518552.2:n.463-1G>A
ENST00000672818.3:c.454-1G>A	ENSP00000500891.1:n.454-1G>A
ENST00000450313.6:c.389-1G>A	ENSP00000408176.2:n.389-1G>A
ENST00000456914.7:c.379-1G>A MANE Select	ENSP00000407590.2:n.379-1G>A
ENST00000461495.6:c.*118-1G>A	ENSP00000437166.1:n.*118-1G>A
ENST00000671856.1:n.325-1G>A
ENST00000671898.1:c.967-1G>A	ENSP00000499896.1:n.967-1G>A
ENST00000672011.1:c.347-1G>A	ENSP00000500418.1:n.347-1G>A
ENST00000672314.1:c.379-1G>A	ENSP00000500828.1:n.379-1G>A
ENST00000672593.1:c.*192-1G>A	ENSP00000500455.1:n.*192-1G>A
ENST00000672764.1:c.338-1G>A	ENSP00000500886.1:n.338-1G>A
ENST00000672818.2:c.454-1G>A	ENSP00000500891.1:n.454-1G>A
ENST00000673134.1:c.*118-126G>A	ENSP00000500526.1:n.*118-126G>A
ENST00000674679.1:c.407-1G>A	ENSP00000501623.1:n.407-1G>A
ENST00000354383.10:c.382-1G>A	ENSP00000346354.6:n.382-1G>A
ENST00000355498.6:c.379-1G>A	ENSP00000347685.2:n.379-1G>A
ENST00000372098.7:c.454-1G>A	ENSP00000361170.3:n.454-1G>A
ENST00000372104.5:c.379-1G>A	ENSP00000361176.1:n.379-1G>A
ENST00000372110.7:c.424-1G>A	ENSP00000361182.3:n.424-1G>A
ENST00000372115.7:c.421-1G>A	ENSP00000361187.3:n.421-1G>A
ENST00000412971.5:c.37-126G>A	ENSP00000410263.1:n.37-126G>A
ENST00000435155.1:c.412-1G>A	ENSP00000403655.1:n.412-1G>A
ENST00000448481.5:c.412-1G>A	ENSP00000409718.1:n.412-1G>A
ENST00000450313.5:c.463-1G>A	ENSP00000408176.1:n.463-1G>A
ENST00000456914.6:c.379-1G>A	ENSP00000407590.2:n.379-1G>A
ENST00000461495.5:c.*118-1G>A	ENSP00000437166.1:n.*118-1G>A
ENST00000462387.5:n.700G>A
ENST00000467940.5:c.*302-1G>A	ENSP00000436478.1:n.*302-1G>A
ENST00000470256.5:c.308-126G>A	ENSP00000434985.1:n.308-126G>A
ENST00000475516.5:c.*192-1G>A	ENSP00000433843.1:n.*192-1G>A
ENST00000476789.5:n.735G>A
ENST00000478796.5:n.365G>A
ENST00000479746.6:n.578G>A
ENST00000481139.5:n.768G>A
ENST00000481571.5:c.*192-1G>A	ENSP00000436597.1:n.*192-1G>A
ENST00000483642.5:n.810G>A
ENST00000485484.5:n.679G>A
ENST00000488731.6:c.116-126G>A	ENSP00000432330.1:n.116-126G>A
ENST00000492494.5:n.692G>A
ENST00000525160.5:c.*30-1G>A	ENSP00000431568.1:n.*30-1G>A
ENST00000528013.6:c.421-1G>A	ENSP00000433130.2:n.421-1G>A
ENST00000529984.5:c.116-126G>A	ENSP00000437093.1:n.116-126G>A
ENST00000531105.5:c.115+1431G>A	ENSP00000431292.1:n.115+1431G>A
ENST00000533178.5:c.122-273G>A	ENSP00000436430.1:n.122-273G>A
NM_001048171.1:c.421-1G>A	NP_001041636.1:n.421-1G>A
NM_001048172.1:c.382-1G>A	NP_001041637.1:n.382-1G>A
NM_001048173.1:c.379-1G>A	NP_001041638.1:n.379-1G>A
NM_001048174.1:c.379-1G>A	NP_001041639.1:n.379-1G>A
NM_001128425.1:c.463-1G>A , LRG_220t1:c.463-1G>A	NP_001121897.1:n.463-1G>A
NM_001293190.1:c.424-1G>A	NP_001280119.1:n.424-1G>A
NM_001293191.1:c.412-1G>A	NP_001280120.1:n.412-1G>A
NM_001293192.1:c.103-1G>A	NP_001280121.1:n.103-1G>A
NM_001293195.1:c.379-1G>A	NP_001280124.1:n.379-1G>A
NM_001293196.1:c.103-1G>A	NP_001280125.1:n.103-1G>A
NM_012222.2:c.454-1G>A	NP_036354.1:n.454-1G>A
XM_011541497.1:c.439-1G>A	XP_011539799.1:n.439-1G>A
XM_011541498.1:c.421-1G>A	XP_011539800.1:n.421-1G>A
XM_011541499.1:c.421-1G>A	XP_011539801.1:n.421-1G>A
XM_011541500.1:c.421-1G>A	XP_011539802.1:n.421-1G>A
XM_011541501.1:c.421-1G>A	XP_011539803.1:n.421-1G>A
XM_011541502.1:c.421-1G>A	XP_011539804.1:n.421-1G>A
XM_011541503.1:c.463-126G>A	XP_011539805.1:n.463-126G>A
XM_011541504.1:c.412-1G>A	XP_011539806.1:n.412-1G>A
XM_011541505.1:c.43-126G>A	XP_011539807.1:n.43-126G>A
XM_011541506.1:c.43-126G>A	XP_011539808.1:n.43-126G>A
XM_011541507.1:c.34-126G>A	XP_011539809.1:n.34-126G>A
XM_011541508.1:c.7-1G>A	XP_011539810.1:n.7-1G>A
XR_946658.1:n.510-1G>A
NM_001350650.1:c.34-1G>A	NP_001337579.1:n.34-1G>A
NM_001350651.1:c.34-1G>A	NP_001337580.1:n.34-1G>A
NR_146882.1:n.637-1G>A
NR_146883.1:n.451-1G>A
XM_011541497.3:c.439-1G>A	XP_011539799.1:n.439-1G>A
XM_011541500.3:c.421-1G>A	XP_011539802.1:n.421-1G>A
XM_011541501.2:c.421-1G>A	XP_011539803.1:n.421-1G>A
XM_011541502.2:c.421-1G>A	XP_011539804.1:n.421-1G>A
XM_011541503.2:c.463-126G>A	XP_011539805.1:n.463-126G>A
XM_011541504.2:c.412-1G>A	XP_011539806.1:n.412-1G>A
XM_011541505.2:c.43-126G>A	XP_011539807.1:n.43-126G>A
XM_011541506.2:c.43-126G>A	XP_011539808.1:n.43-126G>A
XM_017001331.1:c.421-1G>A	XP_016856820.1:n.421-1G>A
XM_017001332.1:c.421-1G>A	XP_016856821.1:n.421-1G>A
XM_017001333.1:c.421-1G>A	XP_016856822.1:n.421-1G>A
XM_017001334.1:c.382-1G>A	XP_016856823.1:n.382-1G>A
XM_017001335.1:c.103-1G>A	XP_016856824.1:n.103-1G>A
XM_017001336.1:c.34-1G>A	XP_016856825.1:n.34-1G>A
XM_017001337.1:c.34-1G>A	XP_016856826.1:n.34-1G>A
XM_024447244.1:c.34-1G>A	XP_024303012.1:n.34-1G>A
XM_024447245.1:c.34-1G>A	XP_024303013.1:n.34-1G>A
XM_024447248.1:c.34-126G>A	XP_024303016.1:n.34-126G>A
XM_024447249.1:c.-139G>A	XP_024303017.1:n.-139G>A
XM_024447250.1:c.-139G>A	XP_024303018.1:n.-139G>A
XM_024447251.1:c.-221-1G>A	XP_024303019.1:n.-221-1G>A
XR_001737190.1:n.424-1G>A
XR_001737192.1:n.278-126G>A
XR_002956643.1:n.458-126G>A
XR_002956644.1:n.867G>A
XR_946658.2:n.524-1G>A
NM_001048171.2:c.379-1G>A	NP_001041636.2:n.379-1G>A
NM_001128425.2:c.463-1G>A MANE Plus Clinical	NP_001121897.1:n.463-1G>A
NM_001048172.2:c.382-1G>A	NP_001041637.1:n.382-1G>A
NM_001048173.2:c.379-1G>A	NP_001041638.1:n.379-1G>A
NM_001048174.2:c.379-1G>A MANE Select	NP_001041639.1:n.379-1G>A
NM_001293190.2:c.424-1G>A	NP_001280119.1:n.424-1G>A
NM_001293191.2:c.412-1G>A	NP_001280120.1:n.412-1G>A
NM_001293192.2:c.103-1G>A	NP_001280121.1:n.103-1G>A
NM_001293195.2:c.379-1G>A	NP_001280124.1:n.379-1G>A
NM_001293196.2:c.103-1G>A	NP_001280125.1:n.103-1G>A
NM_001350650.2:c.34-1G>A	NP_001337579.1:n.34-1G>A
NM_001350651.2:c.34-1G>A	NP_001337580.1:n.34-1G>A
NM_012222.3:c.454-1G>A	NP_036354.1:n.454-1G>A
NR_146882.2:n.607-1G>A
NR_146883.2:n.456-1G>A