Canonical Allele Identifier: CA417880477

Gene: MUTYH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45333503T>A , CM000663.2:g.45333503T>A	GRCh38
NC_000001.10:g.45799175T>A , CM000663.1:g.45799175T>A	GRCh37
NC_000001.9:g.45571762T>A	NCBI36
NG_008189.1:g.11968A>T , LRG_220:g.11968A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001048174.2:c.174A>T MANE Select	NP_001041639.1:p.Leu58=
ENST00000456914.7:c.174A>T MANE Select	ENSP00000407590.2:p.Leu58=
NM_001128425.2:c.258A>T MANE Plus Clinical	NP_001121897.1:p.Leu86=
ENST00000710952.2:c.258A>T MANE Plus Clinical	ENSP00000518552.2:p.Leu86=
NM_001048171.1:c.216A>T	NP_001041636.1:p.Leu72=
NM_001048171.2:c.174A>T	NP_001041636.2:p.Leu58=
NM_001048172.1:c.177A>T	NP_001041637.1:p.Leu59=
NM_001048172.2:c.177A>T	NP_001041637.1:p.Leu59=
NM_001048173.1:c.174A>T	NP_001041638.1:p.Leu58=
NM_001048173.2:c.174A>T	NP_001041638.1:p.Leu58=
NM_001048174.1:c.174A>T	NP_001041639.1:p.Leu58=
NM_001128425.1:c.258A>T , LRG_220t1:c.258A>T	NP_001121897.1:p.Leu86=
NM_001293190.1:c.219A>T	NP_001280119.1:p.Leu73=
NM_001293190.2:c.219A>T	NP_001280119.1:p.Leu73=
NM_001293191.1:c.207A>T	NP_001280120.1:p.Leu69=
NM_001293191.2:c.207A>T	NP_001280120.1:p.Leu69=
NM_001293192.1:c.-97-6A>T	NP_001280121.1:n.-97-6A>T
NM_001293192.2:c.-97-6A>T	NP_001280121.1:n.-97-6A>T
NM_001293195.1:c.174A>T	NP_001280124.1:p.Leu58=
NM_001293195.2:c.174A>T	NP_001280124.1:p.Leu58=
NM_001293196.1:c.-97-6A>T	NP_001280125.1:n.-97-6A>T
NM_001293196.2:c.-97-6A>T	NP_001280125.1:n.-97-6A>T
NM_001350650.1:c.-98A>T	NP_001337579.1:n.-98A>T
NM_001350650.2:c.-98A>T	NP_001337579.1:n.-98A>T
NM_001350651.1:c.-92-6A>T	NP_001337580.1:n.-92-6A>T
NM_001350651.2:c.-92-6A>T	NP_001337580.1:n.-92-6A>T
NM_012222.2:c.249A>T	NP_036354.1:p.Leu83=
NM_012222.3:c.249A>T	NP_036354.1:p.Leu83=
NR_146882.1:n.432A>T
NR_146882.2:n.402A>T
NR_146883.1:n.320A>T
NR_146883.2:n.325A>T
ENST00000354383.10:c.177A>T	ENSP00000346354.6:p.Leu59=
ENST00000355498.6:c.174A>T	ENSP00000347685.2:p.Leu58=
ENST00000372098.7:c.249A>T	ENSP00000361170.3:p.Leu83=
ENST00000372104.5:c.174A>T	ENSP00000361176.1:p.Leu58=
ENST00000372110.7:c.219A>T	ENSP00000361182.3:p.Leu73=
ENST00000372115.7:c.216A>T	ENSP00000361187.3:p.Leu72=
ENST00000412971.5:c.37-669A>T	ENSP00000410263.1:n.37-669A>T
ENST00000412971.6:c.37-669A>T	ENSP00000410263.2:n.37-669A>T
ENST00000435155.1:c.207A>T	ENSP00000403655.1:p.Leu69=
ENST00000435155.2:c.207A>T	ENSP00000403655.2:p.Leu69=
ENST00000448481.5:c.207A>T	ENSP00000409718.1:p.Leu69=
ENST00000450313.5:c.258A>T	ENSP00000408176.1:p.Leu86=
ENST00000450313.6:c.258A>T	ENSP00000408176.2:p.Leu86=
ENST00000456914.6:c.174A>T	ENSP00000407590.2:p.Leu58=
ENST00000461495.5:c.158-6A>T	ENSP00000437166.1:n.158-6A>T
ENST00000461495.6:c.158-6A>T	ENSP00000437166.1:n.158-6A>T
ENST00000462387.5:n.336-179A>T
ENST00000467459.6:c.174A>T	ENSP00000435889.2:p.Leu58=
ENST00000467940.5:c.*97A>T	ENSP00000436478.1:n.*97A>T
ENST00000470256.5:c.177A>T	ENSP00000434985.1:p.Leu59=
ENST00000474703.1:n.329A>T
ENST00000475516.5:c.116-6A>T	ENSP00000433843.1:n.116-6A>T
ENST00000476789.5:n.394A>T
ENST00000479746.6:n.237A>T
ENST00000481139.5:n.319-6A>T
ENST00000481571.5:c.158-6A>T	ENSP00000436597.1:n.158-6A>T
ENST00000483127.1:c.192A>T	ENSP00000436469.1:p.Leu64=
ENST00000483127.2:c.192A>T	ENSP00000436469.2:p.Leu64=
ENST00000483642.5:n.355A>T
ENST00000485271.6:c.174A>T	ENSP00000431264.2:p.Leu58=
ENST00000485484.5:n.224A>T
ENST00000488731.6:c.116-669A>T	ENSP00000432330.1:n.116-669A>T
ENST00000492494.5:n.237A>T
ENST00000525160.5:c.158-179A>T	ENSP00000431568.1:n.158-179A>T
ENST00000528013.6:c.216A>T	ENSP00000433130.2:p.Leu72=
ENST00000529892.6:c.216A>T	ENSP00000432528.2:p.Leu72=
ENST00000529984.5:c.116-669A>T	ENSP00000437093.1:n.116-669A>T
ENST00000531105.5:c.115+888A>T	ENSP00000431292.1:n.115+888A>T
ENST00000533178.5:c.122-816A>T	ENSP00000436430.1:n.122-816A>T
ENST00000533178.6:c.116-816A>T	ENSP00000436430.2:n.116-816A>T
ENST00000671856.1:n.194A>T
ENST00000671898.1:c.762A>T	ENSP00000499896.1:p.Leu254=
ENST00000672011.1:c.216A>T	ENSP00000500418.1:p.Leu72=
ENST00000672314.1:c.174A>T	ENSP00000500828.1:p.Leu58=
ENST00000672314.2:c.174A>T	ENSP00000500828.2:p.Leu58=
ENST00000672593.1:c.116-6A>T	ENSP00000500455.1:n.116-6A>T
ENST00000672764.1:c.207A>T	ENSP00000500886.1:p.Leu69=
ENST00000672818.2:c.249A>T	ENSP00000500891.1:p.Leu83=
ENST00000672818.3:c.249A>T	ENSP00000500891.1:p.Leu83=
ENST00000673134.1:c.116-6A>T	ENSP00000500526.1:n.116-6A>T
ENST00000674679.1:c.202A>T	ENSP00000501623.1:n.202A>T
ENST00000674679.2:c.*86A>T	ENSP00000501623.2:n.*86A>T
XM_011541497.1:c.234A>T	XP_011539799.1:p.Leu78=
XM_011541497.3:c.234A>T	XP_011539799.1:p.Leu78=
XM_011541498.1:c.216A>T	XP_011539800.1:p.Leu72=
XM_011541499.1:c.216A>T	XP_011539801.1:p.Leu72=
XM_011541500.1:c.216A>T	XP_011539802.1:p.Leu72=
XM_011541500.3:c.216A>T	XP_011539802.1:p.Leu72=
XM_011541501.1:c.216A>T	XP_011539803.1:p.Leu72=
XM_011541501.2:c.216A>T	XP_011539803.1:p.Leu72=
XM_011541502.1:c.216A>T	XP_011539804.1:p.Leu72=
XM_011541502.2:c.216A>T	XP_011539804.1:p.Leu72=
XM_011541503.1:c.258A>T	XP_011539805.1:p.Leu86=
XM_011541503.2:c.258A>T	XP_011539805.1:p.Leu86=
XM_011541504.1:c.207A>T	XP_011539806.1:p.Leu69=
XM_011541504.2:c.207A>T	XP_011539806.1:p.Leu69=
XM_011541505.1:c.43-669A>T	XP_011539807.1:n.43-669A>T
XM_011541505.2:c.43-669A>T	XP_011539807.1:n.43-669A>T
XM_011541506.1:c.43-669A>T	XP_011539808.1:n.43-669A>T
XM_011541506.2:c.43-669A>T	XP_011539808.1:n.43-669A>T
XM_017001331.1:c.216A>T	XP_016856820.1:p.Leu72=
XM_017001332.1:c.216A>T	XP_016856821.1:p.Leu72=
XM_017001333.1:c.216A>T	XP_016856822.1:p.Leu72=
XM_017001334.1:c.177A>T	XP_016856823.1:p.Leu59=
XM_017001335.1:c.-97-6A>T	XP_016856824.1:n.-97-6A>T
XM_017001336.1:c.-98A>T	XP_016856825.1:n.-98A>T
XM_017001337.1:c.-98A>T	XP_016856826.1:n.-98A>T
XM_024447244.1:c.-98A>T	XP_024303012.1:n.-98A>T
XM_024447245.1:c.-98A>T	XP_024303013.1:n.-98A>T
XM_024447248.1:c.-98A>T	XP_024303016.1:n.-98A>T
XM_024447249.1:c.-594A>T	XP_024303017.1:n.-594A>T
XM_024447250.1:c.-594A>T	XP_024303018.1:n.-594A>T
XM_024447251.1:c.-346-6A>T	XP_024303019.1:n.-346-6A>T
XR_001737190.1:n.225-6A>T
XR_001737192.1:n.153-6A>T
XR_002956643.1:n.333-6A>T
XR_002956644.1:n.412A>T
XR_946658.1:n.305A>T
XR_946658.2:n.319A>T