Canonical Allele Identifier: CA340132865

Gene: MUTYH

Linked Data

• dbSNP Id: rs1225123656
• gnomAD v3: 1-45331443-T-C
• gnomAD v4: 1-45331443-T-C
• MyVariant Identifiers: chr1:g.45797115T>C (hg19) ; chr1:g.45331443T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331443T>C , CM000663.2:g.45331443T>C	GRCh38
NC_000001.10:g.45797115T>C , CM000663.1:g.45797115T>C	GRCh37
NC_000001.9:g.45569702T>C	NCBI36
NG_008189.1:g.14028A>G , LRG_220:g.14028A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.832A>G	ENSP00000410263.2:p.Thr278Ala
ENST00000435155.2:c.1249A>G	ENSP00000403655.2:p.Thr417Ala
ENST00000467459.6:c.*78A>G	ENSP00000435889.2:n.*78A>G
ENST00000483127.2:c.1234A>G	ENSP00000436469.2:p.Thr412Ala
ENST00000485271.6:c.1216A>G	ENSP00000431264.2:p.Thr406Ala
ENST00000529892.6:c.1069A>G	ENSP00000432528.2:p.Thr357Ala
ENST00000533178.6:c.*545A>G	ENSP00000436430.2:n.*545A>G
ENST00000672314.2:c.1216A>G	ENSP00000500828.2:p.Thr406Ala
ENST00000710952.2:c.1300A>G MANE Plus Clinical	ENSP00000518552.2:p.Thr434Ala
ENST00000672818.3:c.1291A>G	ENSP00000500891.1:p.Thr431Ala
ENST00000456914.7:c.1216A>G MANE Select	ENSP00000407590.2:p.Thr406Ala
ENST00000671898.1:c.1804A>G	ENSP00000499896.1:p.Thr602Ala
ENST00000672011.1:c.*545A>G	ENSP00000500418.1:n.*545A>G
ENST00000672314.1:c.1216A>G	ENSP00000500828.1:p.Thr406Ala
ENST00000672593.1:c.*1442A>G	ENSP00000500455.1:n.*1442A>G
ENST00000672818.2:c.1291A>G	ENSP00000500891.1:p.Thr431Ala
ENST00000673134.1:c.*913A>G	ENSP00000500526.1:n.*913A>G
ENST00000354383.10:c.1219A>G	ENSP00000346354.6:p.Thr407Ala
ENST00000355498.6:c.1216A>G	ENSP00000347685.2:p.Thr406Ala
ENST00000372098.7:c.1291A>G	ENSP00000361170.3:p.Thr431Ala
ENST00000372104.5:c.1216A>G	ENSP00000361176.1:p.Thr406Ala
ENST00000372110.7:c.1261A>G	ENSP00000361182.3:p.Thr421Ala
ENST00000372115.7:c.1258A>G	ENSP00000361187.3:p.Thr420Ala
ENST00000448481.5:c.1249A>G	ENSP00000409718.1:p.Thr417Ala
ENST00000450313.5:c.1300A>G	ENSP00000408176.1:p.Thr434Ala
ENST00000456914.6:c.1216A>G	ENSP00000407590.2:p.Thr406Ala
ENST00000467459.5:c.633A>G	ENSP00000435889.1:n.633A>G
ENST00000475516.5:c.*1029A>G	ENSP00000433843.1:n.*1029A>G
ENST00000481571.5:c.*1029A>G	ENSP00000436597.1:n.*1029A>G
ENST00000482094.5:n.537A>G
ENST00000488731.6:c.301A>G	ENSP00000432330.1:p.Thr101Ala
ENST00000528013.6:c.1258A>G	ENSP00000433130.2:p.Thr420Ala
ENST00000529892.5:c.291A>G
ENST00000529984.5:c.301A>G	ENSP00000437093.1:p.Thr101Ala
ENST00000531105.5:c.116-2006A>G	ENSP00000431292.1:n.116-2006A>G
ENST00000533178.5:c.845A>G	ENSP00000436430.1:n.845A>G
NM_001048171.1:c.1258A>G	NP_001041636.1:p.Thr420Ala
NM_001048172.1:c.1219A>G	NP_001041637.1:p.Thr407Ala
NM_001048173.1:c.1216A>G	NP_001041638.1:p.Thr406Ala
NM_001048174.1:c.1216A>G	NP_001041639.1:p.Thr406Ala
NM_001128425.1:c.1300A>G , LRG_220t1:c.1300A>G	NP_001121897.1:p.Thr434Ala
NM_001293190.1:c.1261A>G	NP_001280119.1:p.Thr421Ala
NM_001293191.1:c.1249A>G	NP_001280120.1:p.Thr417Ala
NM_001293192.1:c.940A>G	NP_001280121.1:p.Thr314Ala
NM_001293195.1:c.1216A>G	NP_001280124.1:p.Thr406Ala
NM_001293196.1:c.940A>G	NP_001280125.1:p.Thr314Ala
NM_012222.2:c.1291A>G	NP_036354.1:p.Thr431Ala
XM_011541497.1:c.1276A>G	XP_011539799.1:p.Thr426Ala
XM_011541498.1:c.1258A>G	XP_011539800.1:p.Thr420Ala
XM_011541499.1:c.1258A>G	XP_011539801.1:p.Thr420Ala
XM_011541500.1:c.1258A>G	XP_011539802.1:p.Thr420Ala
XM_011541501.1:c.1258A>G	XP_011539803.1:p.Thr420Ala
XM_011541502.1:c.1258A>G	XP_011539804.1:p.Thr420Ala
XM_011541503.1:c.1258A>G	XP_011539805.1:p.Thr420Ala
XM_011541504.1:c.1249A>G	XP_011539806.1:p.Thr417Ala
XM_011541505.1:c.838A>G	XP_011539807.1:p.Thr280Ala
XM_011541506.1:c.838A>G	XP_011539808.1:p.Thr280Ala
XM_011541507.1:c.829A>G	XP_011539809.1:p.Thr277Ala
XM_011541508.1:c.844A>G	XP_011539810.1:p.Thr282Ala
XR_946658.1:n.1347A>G
NM_001350650.1:c.871A>G	NP_001337579.1:p.Thr291Ala
NM_001350651.1:c.871A>G	NP_001337580.1:p.Thr291Ala
NR_146882.1:n.1474A>G
NR_146883.1:n.1288A>G
XM_011541497.3:c.1276A>G	XP_011539799.1:p.Thr426Ala
XM_011541500.3:c.1258A>G	XP_011539802.1:p.Thr420Ala
XM_011541501.2:c.1258A>G	XP_011539803.1:p.Thr420Ala
XM_011541502.2:c.1258A>G	XP_011539804.1:p.Thr420Ala
XM_011541503.2:c.1258A>G	XP_011539805.1:p.Thr420Ala
XM_011541504.2:c.1249A>G	XP_011539806.1:p.Thr417Ala
XM_011541505.2:c.838A>G	XP_011539807.1:p.Thr280Ala
XM_011541506.2:c.838A>G	XP_011539808.1:p.Thr280Ala
XM_017001331.1:c.1258A>G	XP_016856820.1:p.Thr420Ala
XM_017001332.1:c.1258A>G	XP_016856821.1:p.Thr420Ala
XM_017001333.1:c.1258A>G	XP_016856822.1:p.Thr420Ala
XM_017001334.1:c.1219A>G	XP_016856823.1:p.Thr407Ala
XM_017001335.1:c.940A>G	XP_016856824.1:p.Thr314Ala
XM_017001336.1:c.871A>G	XP_016856825.1:p.Thr291Ala
XM_017001337.1:c.871A>G	XP_016856826.1:p.Thr291Ala
XM_024447244.1:c.871A>G	XP_024303012.1:p.Thr291Ala
XM_024447245.1:c.871A>G	XP_024303013.1:p.Thr291Ala
XM_024447248.1:c.829A>G	XP_024303016.1:p.Thr277Ala
XM_024447249.1:c.700A>G	XP_024303017.1:p.Thr234Ala
XM_024447250.1:c.700A>G	XP_024303018.1:p.Thr234Ala
XM_024447251.1:c.700A>G	XP_024303019.1:p.Thr234Ala
XR_001737190.1:n.1261A>G
XR_001737192.1:n.1073A>G
XR_002956643.1:n.1253A>G
XR_002956644.1:n.1788A>G
XR_946658.2:n.1361A>G
NM_001048171.2:c.1216A>G	NP_001041636.2:p.Thr406Ala
NM_001128425.2:c.1300A>G MANE Plus Clinical	NP_001121897.1:p.Thr434Ala
NM_001048172.2:c.1219A>G	NP_001041637.1:p.Thr407Ala
NM_001048173.2:c.1216A>G	NP_001041638.1:p.Thr406Ala
NM_001048174.2:c.1216A>G MANE Select	NP_001041639.1:p.Thr406Ala
NM_001293190.2:c.1261A>G	NP_001280119.1:p.Thr421Ala
NM_001293191.2:c.1249A>G	NP_001280120.1:p.Thr417Ala
NM_001293192.2:c.940A>G	NP_001280121.1:p.Thr314Ala
NM_001293195.2:c.1216A>G	NP_001280124.1:p.Thr406Ala
NM_001293196.2:c.940A>G	NP_001280125.1:p.Thr314Ala
NM_001350650.2:c.871A>G	NP_001337579.1:p.Thr291Ala
NM_001350651.2:c.871A>G	NP_001337580.1:p.Thr291Ala
NM_012222.3:c.1291A>G	NP_036354.1:p.Thr431Ala
NR_146882.2:n.1444A>G
NR_146883.2:n.1293A>G