Canonical Allele Identifier: CA011932

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 183823
• ClinVar RCV Id: RCV000162642 ; RCV000476756 ; RCV000765174 ; RCV000780497 ; RCV003237746
• dbSNP Id: rs587778537
• ExAC: 1:45797519 G / C
• gnomAD v2: 1-45797519-G-C
• gnomAD v3: 1-45331847-G-C
• gnomAD v4: 1-45331847-G-C
• MyVariant Identifiers: chr1:g.45797519G>C (hg19) ; chr1:g.45331847G>C (hg38)
• PubMed: PMID:24470512

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331847G>C , CM000663.2:g.45331847G>C	GRCh38
NC_000001.10:g.45797519G>C , CM000663.1:g.45797519G>C	GRCh37
NC_000001.9:g.45570106G>C	NCBI36
NG_008189.1:g.13624C>G , LRG_220:g.13624C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.532C>G	ENSP00000410263.2:p.Pro178Ala
ENST00000435155.2:c.949C>G	ENSP00000403655.2:p.Pro317Ala
ENST00000467459.6:c.939C>G	ENSP00000435889.2:p.Leu313=
ENST00000483127.2:c.934C>G	ENSP00000436469.2:p.Pro312Ala
ENST00000485271.6:c.916C>G	ENSP00000431264.2:p.Pro306Ala
ENST00000529892.6:c.955+176C>G	ENSP00000432528.2:n.955+176C>G
ENST00000533178.6:c.*245C>G	ENSP00000436430.2:n.*245C>G
ENST00000672314.2:c.916C>G	ENSP00000500828.2:p.Pro306Ala
ENST00000710952.2:c.1000C>G MANE Plus Clinical	ENSP00000518552.2:p.Pro334Ala
ENST00000672818.3:c.991C>G	ENSP00000500891.1:p.Pro331Ala
ENST00000456914.7:c.916C>G MANE Select	ENSP00000407590.2:p.Pro306Ala
ENST00000671898.1:c.1504C>G	ENSP00000499896.1:p.Pro502Ala
ENST00000672011.1:c.*245C>G	ENSP00000500418.1:n.*245C>G
ENST00000672314.1:c.916C>G	ENSP00000500828.1:p.Pro306Ala
ENST00000672593.1:c.*1142C>G	ENSP00000500455.1:n.*1142C>G
ENST00000672764.1:c.*245C>G	ENSP00000500886.1:n.*245C>G
ENST00000672818.2:c.991C>G	ENSP00000500891.1:p.Pro331Ala
ENST00000673134.1:c.*613C>G	ENSP00000500526.1:n.*613C>G
ENST00000354383.10:c.919C>G	ENSP00000346354.6:p.Pro307Ala
ENST00000355498.6:c.916C>G	ENSP00000347685.2:p.Pro306Ala
ENST00000372098.7:c.991C>G	ENSP00000361170.3:p.Pro331Ala
ENST00000372104.5:c.916C>G	ENSP00000361176.1:p.Pro306Ala
ENST00000372110.7:c.961C>G	ENSP00000361182.3:p.Pro321Ala
ENST00000372115.7:c.958C>G	ENSP00000361187.3:p.Pro320Ala
ENST00000412971.5:c.532C>G	ENSP00000410263.1:p.Pro178Ala
ENST00000448481.5:c.949C>G	ENSP00000409718.1:p.Pro317Ala
ENST00000450313.5:c.1000C>G	ENSP00000408176.1:p.Pro334Ala
ENST00000456914.6:c.916C>G	ENSP00000407590.2:p.Pro306Ala
ENST00000462388.5:n.780C>G
ENST00000466231.1:n.281C>G
ENST00000467459.5:c.333C>G	ENSP00000435889.1:p.Leu111=
ENST00000475516.5:c.*729C>G	ENSP00000433843.1:n.*729C>G
ENST00000481571.5:c.*729C>G	ENSP00000436597.1:n.*729C>G
ENST00000482094.5:n.237C>G
ENST00000488731.6:c.188-291C>G	ENSP00000432330.1:n.188-291C>G
ENST00000528013.6:c.958C>G	ENSP00000433130.2:p.Pro320Ala
ENST00000529892.5:c.177+176C>G
ENST00000529984.5:c.188-291C>G	ENSP00000437093.1:n.188-291C>G
ENST00000531105.5:c.116-2410C>G	ENSP00000431292.1:n.116-2410C>G
ENST00000533178.5:c.545C>G	ENSP00000436430.1:n.545C>G
NM_001048171.1:c.958C>G	NP_001041636.1:p.Pro320Ala
NM_001048172.1:c.919C>G	NP_001041637.1:p.Pro307Ala
NM_001048173.1:c.916C>G	NP_001041638.1:p.Pro306Ala
NM_001048174.1:c.916C>G	NP_001041639.1:p.Pro306Ala
NM_001128425.1:c.1000C>G , LRG_220t1:c.1000C>G	NP_001121897.1:p.Pro334Ala
NM_001293190.1:c.961C>G	NP_001280119.1:p.Pro321Ala
NM_001293191.1:c.949C>G	NP_001280120.1:p.Pro317Ala
NM_001293192.1:c.640C>G	NP_001280121.1:p.Pro214Ala
NM_001293195.1:c.916C>G	NP_001280124.1:p.Pro306Ala
NM_001293196.1:c.640C>G	NP_001280125.1:p.Pro214Ala
NM_012222.2:c.991C>G	NP_036354.1:p.Pro331Ala
XM_011541497.1:c.976C>G	XP_011539799.1:p.Pro326Ala
XM_011541498.1:c.958C>G	XP_011539800.1:p.Pro320Ala
XM_011541499.1:c.958C>G	XP_011539801.1:p.Pro320Ala
XM_011541500.1:c.958C>G	XP_011539802.1:p.Pro320Ala
XM_011541501.1:c.958C>G	XP_011539803.1:p.Pro320Ala
XM_011541502.1:c.958C>G	XP_011539804.1:p.Pro320Ala
XM_011541503.1:c.958C>G	XP_011539805.1:p.Pro320Ala
XM_011541504.1:c.949C>G	XP_011539806.1:p.Pro317Ala
XM_011541505.1:c.538C>G	XP_011539807.1:p.Pro180Ala
XM_011541506.1:c.538C>G	XP_011539808.1:p.Pro180Ala
XM_011541507.1:c.529C>G	XP_011539809.1:p.Pro177Ala
XM_011541508.1:c.544C>G	XP_011539810.1:p.Pro182Ala
XR_946658.1:n.1047C>G
NM_001350650.1:c.571C>G	NP_001337579.1:p.Pro191Ala
NM_001350651.1:c.571C>G	NP_001337580.1:p.Pro191Ala
NR_146882.1:n.1174C>G
NR_146883.1:n.988C>G
XM_011541497.3:c.976C>G	XP_011539799.1:p.Pro326Ala
XM_011541500.3:c.958C>G	XP_011539802.1:p.Pro320Ala
XM_011541501.2:c.958C>G	XP_011539803.1:p.Pro320Ala
XM_011541502.2:c.958C>G	XP_011539804.1:p.Pro320Ala
XM_011541503.2:c.958C>G	XP_011539805.1:p.Pro320Ala
XM_011541504.2:c.949C>G	XP_011539806.1:p.Pro317Ala
XM_011541505.2:c.538C>G	XP_011539807.1:p.Pro180Ala
XM_011541506.2:c.538C>G	XP_011539808.1:p.Pro180Ala
XM_017001331.1:c.958C>G	XP_016856820.1:p.Pro320Ala
XM_017001332.1:c.958C>G	XP_016856821.1:p.Pro320Ala
XM_017001333.1:c.958C>G	XP_016856822.1:p.Pro320Ala
XM_017001334.1:c.919C>G	XP_016856823.1:p.Pro307Ala
XM_017001335.1:c.640C>G	XP_016856824.1:p.Pro214Ala
XM_017001336.1:c.571C>G	XP_016856825.1:p.Pro191Ala
XM_017001337.1:c.571C>G	XP_016856826.1:p.Pro191Ala
XM_024447244.1:c.571C>G	XP_024303012.1:p.Pro191Ala
XM_024447245.1:c.571C>G	XP_024303013.1:p.Pro191Ala
XM_024447248.1:c.529C>G	XP_024303016.1:p.Pro177Ala
XM_024447249.1:c.400C>G	XP_024303017.1:p.Pro134Ala
XM_024447250.1:c.400C>G	XP_024303018.1:p.Pro134Ala
XM_024447251.1:c.400C>G	XP_024303019.1:p.Pro134Ala
XR_001737190.1:n.961C>G
XR_001737192.1:n.773C>G
XR_002956643.1:n.953C>G
XR_002956644.1:n.1488C>G
XR_946658.2:n.1061C>G
NM_001048171.2:c.916C>G	NP_001041636.2:p.Pro306Ala
NM_001128425.2:c.1000C>G MANE Plus Clinical	NP_001121897.1:p.Pro334Ala
NM_001048172.2:c.919C>G	NP_001041637.1:p.Pro307Ala
NM_001048173.2:c.916C>G	NP_001041638.1:p.Pro306Ala
NM_001048174.2:c.916C>G MANE Select	NP_001041639.1:p.Pro306Ala
NM_001293190.2:c.961C>G	NP_001280119.1:p.Pro321Ala
NM_001293191.2:c.949C>G	NP_001280120.1:p.Pro317Ala
NM_001293192.2:c.640C>G	NP_001280121.1:p.Pro214Ala
NM_001293195.2:c.916C>G	NP_001280124.1:p.Pro306Ala
NM_001293196.2:c.640C>G	NP_001280125.1:p.Pro214Ala
NM_001350650.2:c.571C>G	NP_001337579.1:p.Pro191Ala
NM_001350651.2:c.571C>G	NP_001337580.1:p.Pro191Ala
NM_012222.3:c.991C>G	NP_036354.1:p.Pro331Ala
NR_146882.2:n.1144C>G
NR_146883.2:n.993C>G