Canonical Allele Identifier: CA10577728

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 233048
• ClinVar RCV Id: RCV000214264 ; RCV000795483
• dbSNP Id: rs876660154
• gnomAD v2: 1-45798305-G-A
• gnomAD v3: 1-45332633-G-A
• gnomAD v4: 1-45332633-G-A
• MyVariant Identifiers: chr1:g.45798305G>A (hg19) ; chr1:g.45332633G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332633G>A , CM000663.2:g.45332633G>A	GRCh38
NC_000001.10:g.45798305G>A , CM000663.1:g.45798305G>A	GRCh37
NC_000001.9:g.45570892G>A	NCBI36
NG_008189.1:g.12838C>T , LRG_220:g.12838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.163C>T	ENSP00000410263.2:p.Leu55Phe
ENST00000435155.2:c.580C>T	ENSP00000403655.2:p.Leu194Phe
ENST00000467459.6:c.547C>T	ENSP00000435889.2:p.Leu183Phe
ENST00000483127.2:c.565C>T	ENSP00000436469.2:p.Leu189Phe
ENST00000485271.6:c.547C>T	ENSP00000431264.2:p.Leu183Phe
ENST00000529892.6:c.589C>T	ENSP00000432528.2:p.Leu197Phe
ENST00000533178.6:c.170C>T	ENSP00000436430.2:p.Ala57Val
ENST00000672314.2:c.547C>T	ENSP00000500828.2:p.Leu183Phe
ENST00000674679.2:c.*459C>T	ENSP00000501623.2:n.*459C>T
ENST00000710952.2:c.631C>T MANE Plus Clinical	ENSP00000518552.2:p.Leu211Phe
ENST00000672818.3:c.622C>T	ENSP00000500891.1:p.Leu208Phe
ENST00000450313.6:c.557C>T	ENSP00000408176.2:p.Ala186Val
ENST00000456914.7:c.547C>T MANE Select	ENSP00000407590.2:p.Leu183Phe
ENST00000461495.6:c.*286C>T	ENSP00000437166.1:n.*286C>T
ENST00000671856.1:n.493C>T
ENST00000671898.1:c.1135C>T	ENSP00000499896.1:p.Leu379Phe
ENST00000672011.1:c.515C>T	ENSP00000500418.1:p.Ala172Val
ENST00000672314.1:c.547C>T	ENSP00000500828.1:p.Leu183Phe
ENST00000672593.1:c.*435C>T	ENSP00000500455.1:n.*435C>T
ENST00000672764.1:c.506C>T	ENSP00000500886.1:p.Ala169Val
ENST00000672818.2:c.622C>T	ENSP00000500891.1:p.Leu208Phe
ENST00000673134.1:c.*244C>T	ENSP00000500526.1:n.*244C>T
ENST00000674679.1:c.575C>T	ENSP00000501623.1:n.575C>T
ENST00000354383.10:c.550C>T	ENSP00000346354.6:p.Leu184Phe
ENST00000355498.6:c.547C>T	ENSP00000347685.2:p.Leu183Phe
ENST00000372098.7:c.622C>T	ENSP00000361170.3:p.Leu208Phe
ENST00000372104.5:c.547C>T	ENSP00000361176.1:p.Leu183Phe
ENST00000372110.7:c.592C>T	ENSP00000361182.3:p.Leu198Phe
ENST00000372115.7:c.589C>T	ENSP00000361187.3:p.Leu197Phe
ENST00000412971.5:c.163C>T	ENSP00000410263.1:p.Leu55Phe
ENST00000435155.1:c.580C>T	ENSP00000403655.1:p.Leu194Phe
ENST00000448481.5:c.580C>T	ENSP00000409718.1:p.Leu194Phe
ENST00000450313.5:c.631C>T	ENSP00000408176.1:p.Leu211Phe
ENST00000456914.6:c.547C>T	ENSP00000407590.2:p.Leu183Phe
ENST00000461495.5:c.*286C>T	ENSP00000437166.1:n.*286C>T
ENST00000462388.5:n.238C>T
ENST00000467940.5:c.*470C>T	ENSP00000436478.1:n.*470C>T
ENST00000470256.5:c.434C>T	ENSP00000434985.1:p.Ala145Val
ENST00000475516.5:c.*360C>T	ENSP00000433843.1:n.*360C>T
ENST00000478796.5:n.534C>T
ENST00000479746.6:n.905C>T
ENST00000481571.5:c.*360C>T	ENSP00000436597.1:n.*360C>T
ENST00000483642.5:n.1062C>T
ENST00000488731.6:c.187+130C>T	ENSP00000432330.1:n.187+130C>T
ENST00000492494.5:n.944C>T
ENST00000525160.5:c.*198C>T	ENSP00000431568.1:n.*198C>T
ENST00000528013.6:c.589C>T	ENSP00000433130.2:p.Leu197Phe
ENST00000529984.5:c.187+130C>T	ENSP00000437093.1:n.187+130C>T
ENST00000531105.5:c.115+1758C>T	ENSP00000431292.1:n.115+1758C>T
ENST00000533178.5:c.176C>T	ENSP00000436430.1:p.Ala59Val
NM_001048171.1:c.589C>T	NP_001041636.1:p.Leu197Phe
NM_001048172.1:c.550C>T	NP_001041637.1:p.Leu184Phe
NM_001048173.1:c.547C>T	NP_001041638.1:p.Leu183Phe
NM_001048174.1:c.547C>T	NP_001041639.1:p.Leu183Phe
NM_001128425.1:c.631C>T , LRG_220t1:c.631C>T	NP_001121897.1:p.Leu211Phe
NM_001293190.1:c.592C>T	NP_001280119.1:p.Leu198Phe
NM_001293191.1:c.580C>T	NP_001280120.1:p.Leu194Phe
NM_001293192.1:c.271C>T	NP_001280121.1:p.Leu91Phe
NM_001293195.1:c.547C>T	NP_001280124.1:p.Leu183Phe
NM_001293196.1:c.271C>T	NP_001280125.1:p.Leu91Phe
NM_012222.2:c.622C>T	NP_036354.1:p.Leu208Phe
XM_011541497.1:c.607C>T	XP_011539799.1:p.Leu203Phe
XM_011541498.1:c.589C>T	XP_011539800.1:p.Leu197Phe
XM_011541499.1:c.589C>T	XP_011539801.1:p.Leu197Phe
XM_011541500.1:c.589C>T	XP_011539802.1:p.Leu197Phe
XM_011541501.1:c.589C>T	XP_011539803.1:p.Leu197Phe
XM_011541502.1:c.589C>T	XP_011539804.1:p.Leu197Phe
XM_011541503.1:c.589C>T	XP_011539805.1:p.Leu197Phe
XM_011541504.1:c.580C>T	XP_011539806.1:p.Leu194Phe
XM_011541505.1:c.169C>T	XP_011539807.1:p.Leu57Phe
XM_011541506.1:c.169C>T	XP_011539808.1:p.Leu57Phe
XM_011541507.1:c.160C>T	XP_011539809.1:p.Leu54Phe
XM_011541508.1:c.175C>T	XP_011539810.1:p.Leu59Phe
XR_946658.1:n.678C>T
NM_001350650.1:c.202C>T	NP_001337579.1:p.Leu68Phe
NM_001350651.1:c.202C>T	NP_001337580.1:p.Leu68Phe
NR_146882.1:n.805C>T
NR_146883.1:n.619C>T
XM_011541497.3:c.607C>T	XP_011539799.1:p.Leu203Phe
XM_011541500.3:c.589C>T	XP_011539802.1:p.Leu197Phe
XM_011541501.2:c.589C>T	XP_011539803.1:p.Leu197Phe
XM_011541502.2:c.589C>T	XP_011539804.1:p.Leu197Phe
XM_011541503.2:c.589C>T	XP_011539805.1:p.Leu197Phe
XM_011541504.2:c.580C>T	XP_011539806.1:p.Leu194Phe
XM_011541505.2:c.169C>T	XP_011539807.1:p.Leu57Phe
XM_011541506.2:c.169C>T	XP_011539808.1:p.Leu57Phe
XM_017001331.1:c.589C>T	XP_016856820.1:p.Leu197Phe
XM_017001332.1:c.589C>T	XP_016856821.1:p.Leu197Phe
XM_017001333.1:c.589C>T	XP_016856822.1:p.Leu197Phe
XM_017001334.1:c.550C>T	XP_016856823.1:p.Leu184Phe
XM_017001335.1:c.271C>T	XP_016856824.1:p.Leu91Phe
XM_017001336.1:c.202C>T	XP_016856825.1:p.Leu68Phe
XM_017001337.1:c.202C>T	XP_016856826.1:p.Leu68Phe
XM_024447244.1:c.202C>T	XP_024303012.1:p.Leu68Phe
XM_024447245.1:c.202C>T	XP_024303013.1:p.Leu68Phe
XM_024447248.1:c.160C>T	XP_024303016.1:p.Leu54Phe
XM_024447249.1:c.31C>T	XP_024303017.1:p.Leu11Phe
XM_024447250.1:c.31C>T	XP_024303018.1:p.Leu11Phe
XM_024447251.1:c.31C>T	XP_024303019.1:p.Leu11Phe
XR_001737190.1:n.592C>T
XR_001737192.1:n.404C>T
XR_002956643.1:n.584C>T
XR_002956644.1:n.1119C>T
XR_946658.2:n.692C>T
NM_001048171.2:c.547C>T	NP_001041636.2:p.Leu183Phe
NM_001128425.2:c.631C>T MANE Plus Clinical	NP_001121897.1:p.Leu211Phe
NM_001048172.2:c.550C>T	NP_001041637.1:p.Leu184Phe
NM_001048173.2:c.547C>T	NP_001041638.1:p.Leu183Phe
NM_001048174.2:c.547C>T MANE Select	NP_001041639.1:p.Leu183Phe
NM_001293190.2:c.592C>T	NP_001280119.1:p.Leu198Phe
NM_001293191.2:c.580C>T	NP_001280120.1:p.Leu194Phe
NM_001293192.2:c.271C>T	NP_001280121.1:p.Leu91Phe
NM_001293195.2:c.547C>T	NP_001280124.1:p.Leu183Phe
NM_001293196.2:c.271C>T	NP_001280125.1:p.Leu91Phe
NM_001350650.2:c.202C>T	NP_001337579.1:p.Leu68Phe
NM_001350651.2:c.202C>T	NP_001337580.1:p.Leu68Phe
NM_012222.3:c.622C>T	NP_036354.1:p.Leu208Phe
NR_146882.2:n.775C>T
NR_146883.2:n.624C>T