Canonical Allele Identifier: CA340134857

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 845282
• ClinVar RCV Id: RCV002379534
• dbSNP Id: rs1645090090
• gnomAD v4: 1-45332451-A-G
• MyVariant Identifiers: chr1:g.45798123A>G (hg19) ; chr1:g.45332451A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332451A>G , CM000663.2:g.45332451A>G	GRCh38
NC_000001.10:g.45798123A>G , CM000663.1:g.45798123A>G	GRCh37
NC_000001.9:g.45570710A>G	NCBI36
NG_008189.1:g.13020T>C , LRG_220:g.13020T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.260T>C	ENSP00000410263.2:p.Leu87Pro
ENST00000435155.2:c.677T>C	ENSP00000403655.2:p.Leu226Pro
ENST00000467459.6:c.644T>C	ENSP00000435889.2:p.Leu215Pro
ENST00000483127.2:c.662T>C	ENSP00000436469.2:p.Leu221Pro
ENST00000485271.6:c.644T>C	ENSP00000431264.2:p.Leu215Pro
ENST00000529892.6:c.686T>C	ENSP00000432528.2:p.Leu229Pro
ENST00000533178.6:c.267T>C	ENSP00000436430.2:p.Ala89=
ENST00000672314.2:c.644T>C	ENSP00000500828.2:p.Leu215Pro
ENST00000674679.2:c.*556T>C	ENSP00000501623.2:n.*556T>C
ENST00000710952.2:c.728T>C MANE Plus Clinical	ENSP00000518552.2:p.Leu243Pro
ENST00000672818.3:c.719T>C	ENSP00000500891.1:p.Leu240Pro
ENST00000450313.6:c.654T>C	ENSP00000408176.2:p.Ala218=
ENST00000456914.7:c.644T>C MANE Select	ENSP00000407590.2:p.Leu215Pro
ENST00000461495.6:c.*383T>C	ENSP00000437166.1:n.*383T>C
ENST00000671898.1:c.1232T>C	ENSP00000499896.1:p.Leu411Pro
ENST00000672011.1:c.612T>C	ENSP00000500418.1:p.Ala204=
ENST00000672314.1:c.644T>C	ENSP00000500828.1:p.Leu215Pro
ENST00000672593.1:c.*617T>C	ENSP00000500455.1:n.*617T>C
ENST00000672764.1:c.603T>C	ENSP00000500886.1:p.Ala201=
ENST00000672818.2:c.719T>C	ENSP00000500891.1:p.Leu240Pro
ENST00000673134.1:c.*341T>C	ENSP00000500526.1:n.*341T>C
ENST00000674679.1:c.672T>C	ENSP00000501623.1:n.672T>C
ENST00000354383.10:c.647T>C	ENSP00000346354.6:p.Leu216Pro
ENST00000355498.6:c.644T>C	ENSP00000347685.2:p.Leu215Pro
ENST00000372098.7:c.719T>C	ENSP00000361170.3:p.Leu240Pro
ENST00000372104.5:c.644T>C	ENSP00000361176.1:p.Leu215Pro
ENST00000372110.7:c.689T>C	ENSP00000361182.3:p.Leu230Pro
ENST00000372115.7:c.686T>C	ENSP00000361187.3:p.Leu229Pro
ENST00000412971.5:c.260T>C	ENSP00000410263.1:p.Leu87Pro
ENST00000435155.1:c.677T>C	ENSP00000403655.1:p.Leu226Pro
ENST00000448481.5:c.677T>C	ENSP00000409718.1:p.Leu226Pro
ENST00000450313.5:c.728T>C	ENSP00000408176.1:p.Leu243Pro
ENST00000456914.6:c.644T>C	ENSP00000407590.2:p.Leu215Pro
ENST00000461495.5:c.*383T>C	ENSP00000437166.1:n.*383T>C
ENST00000462388.5:n.335T>C
ENST00000467459.5:c.38T>C	ENSP00000435889.1:p.Leu13Pro
ENST00000467940.5:c.*567T>C	ENSP00000436478.1:n.*567T>C
ENST00000470256.5:c.531T>C	ENSP00000434985.1:p.Ala177=
ENST00000475516.5:c.*457T>C	ENSP00000433843.1:n.*457T>C
ENST00000478796.5:n.631T>C
ENST00000481571.5:c.*457T>C	ENSP00000436597.1:n.*457T>C
ENST00000488731.6:c.187+312T>C	ENSP00000432330.1:n.187+312T>C
ENST00000525160.5:c.*295T>C	ENSP00000431568.1:n.*295T>C
ENST00000528013.6:c.686T>C	ENSP00000433130.2:p.Leu229Pro
ENST00000529984.5:c.187+312T>C	ENSP00000437093.1:n.187+312T>C
ENST00000531105.5:c.115+1940T>C	ENSP00000431292.1:n.115+1940T>C
ENST00000533178.5:c.273T>C	ENSP00000436430.1:p.Ala91=
NM_001048171.1:c.686T>C	NP_001041636.1:p.Leu229Pro
NM_001048172.1:c.647T>C	NP_001041637.1:p.Leu216Pro
NM_001048173.1:c.644T>C	NP_001041638.1:p.Leu215Pro
NM_001048174.1:c.644T>C	NP_001041639.1:p.Leu215Pro
NM_001128425.1:c.728T>C , LRG_220t1:c.728T>C	NP_001121897.1:p.Leu243Pro
NM_001293190.1:c.689T>C	NP_001280119.1:p.Leu230Pro
NM_001293191.1:c.677T>C	NP_001280120.1:p.Leu226Pro
NM_001293192.1:c.368T>C	NP_001280121.1:p.Leu123Pro
NM_001293195.1:c.644T>C	NP_001280124.1:p.Leu215Pro
NM_001293196.1:c.368T>C	NP_001280125.1:p.Leu123Pro
NM_012222.2:c.719T>C	NP_036354.1:p.Leu240Pro
XM_011541497.1:c.704T>C	XP_011539799.1:p.Leu235Pro
XM_011541498.1:c.686T>C	XP_011539800.1:p.Leu229Pro
XM_011541499.1:c.686T>C	XP_011539801.1:p.Leu229Pro
XM_011541500.1:c.686T>C	XP_011539802.1:p.Leu229Pro
XM_011541501.1:c.686T>C	XP_011539803.1:p.Leu229Pro
XM_011541502.1:c.686T>C	XP_011539804.1:p.Leu229Pro
XM_011541503.1:c.686T>C	XP_011539805.1:p.Leu229Pro
XM_011541504.1:c.677T>C	XP_011539806.1:p.Leu226Pro
XM_011541505.1:c.266T>C	XP_011539807.1:p.Leu89Pro
XM_011541506.1:c.266T>C	XP_011539808.1:p.Leu89Pro
XM_011541507.1:c.257T>C	XP_011539809.1:p.Leu86Pro
XM_011541508.1:c.272T>C	XP_011539810.1:p.Leu91Pro
XR_946658.1:n.775T>C
NM_001350650.1:c.299T>C	NP_001337579.1:p.Leu100Pro
NM_001350651.1:c.299T>C	NP_001337580.1:p.Leu100Pro
NR_146882.1:n.902T>C
NR_146883.1:n.716T>C
XM_011541497.3:c.704T>C	XP_011539799.1:p.Leu235Pro
XM_011541500.3:c.686T>C	XP_011539802.1:p.Leu229Pro
XM_011541501.2:c.686T>C	XP_011539803.1:p.Leu229Pro
XM_011541502.2:c.686T>C	XP_011539804.1:p.Leu229Pro
XM_011541503.2:c.686T>C	XP_011539805.1:p.Leu229Pro
XM_011541504.2:c.677T>C	XP_011539806.1:p.Leu226Pro
XM_011541505.2:c.266T>C	XP_011539807.1:p.Leu89Pro
XM_011541506.2:c.266T>C	XP_011539808.1:p.Leu89Pro
XM_017001331.1:c.686T>C	XP_016856820.1:p.Leu229Pro
XM_017001332.1:c.686T>C	XP_016856821.1:p.Leu229Pro
XM_017001333.1:c.686T>C	XP_016856822.1:p.Leu229Pro
XM_017001334.1:c.647T>C	XP_016856823.1:p.Leu216Pro
XM_017001335.1:c.368T>C	XP_016856824.1:p.Leu123Pro
XM_017001336.1:c.299T>C	XP_016856825.1:p.Leu100Pro
XM_017001337.1:c.299T>C	XP_016856826.1:p.Leu100Pro
XM_024447244.1:c.299T>C	XP_024303012.1:p.Leu100Pro
XM_024447245.1:c.299T>C	XP_024303013.1:p.Leu100Pro
XM_024447248.1:c.257T>C	XP_024303016.1:p.Leu86Pro
XM_024447249.1:c.128T>C	XP_024303017.1:p.Leu43Pro
XM_024447250.1:c.128T>C	XP_024303018.1:p.Leu43Pro
XM_024447251.1:c.128T>C	XP_024303019.1:p.Leu43Pro
XR_001737190.1:n.689T>C
XR_001737192.1:n.501T>C
XR_002956643.1:n.681T>C
XR_002956644.1:n.1216T>C
XR_946658.2:n.789T>C
NM_001048171.2:c.644T>C	NP_001041636.2:p.Leu215Pro
NM_001128425.2:c.728T>C MANE Plus Clinical	NP_001121897.1:p.Leu243Pro
NM_001048172.2:c.647T>C	NP_001041637.1:p.Leu216Pro
NM_001048173.2:c.644T>C	NP_001041638.1:p.Leu215Pro
NM_001048174.2:c.644T>C MANE Select	NP_001041639.1:p.Leu215Pro
NM_001293190.2:c.689T>C	NP_001280119.1:p.Leu230Pro
NM_001293191.2:c.677T>C	NP_001280120.1:p.Leu226Pro
NM_001293192.2:c.368T>C	NP_001280121.1:p.Leu123Pro
NM_001293195.2:c.644T>C	NP_001280124.1:p.Leu215Pro
NM_001293196.2:c.368T>C	NP_001280125.1:p.Leu123Pro
NM_001350650.2:c.299T>C	NP_001337579.1:p.Leu100Pro
NM_001350651.2:c.299T>C	NP_001337580.1:p.Leu100Pro
NM_012222.3:c.719T>C	NP_036354.1:p.Leu240Pro
NR_146882.2:n.872T>C
NR_146883.2:n.721T>C