Canonical Allele Identifier: CA011883

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 41767
• ClinVar RCV Id: RCV000034684 ; RCV000079500 ; RCV000131427 ; RCV000144634 ; RCV000299432
• dbSNP Id: rs3219489
• ExAC: 1:45797505 C / G
• gnomAD v2: 1-45797505-C-G
• gnomAD v3: 1-45331833-C-G
• gnomAD v4: 1-45331833-C-G
• MyVariant Identifiers: chr1:g.45797505C>G (hg19) ; chr1:g.45331833C>G (hg38)
• PubMed: PMID:16774938 ; PMID:18271935 ; PMID:21777424 ; PMID:22703879 ; PMID:22922830 ; PMID:24039736 ; PMID:24728327 ; PMID:24799981

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331833C>G , CM000663.2:g.45331833C>G	GRCh38
NC_000001.10:g.45797505C>G , CM000663.1:g.45797505C>G	GRCh37
NC_000001.9:g.45570092C>G	NCBI36
NG_008189.1:g.13638G>C , LRG_220:g.13638G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.546G>C	ENSP00000410263.2:p.Gln182His
ENST00000435155.2:c.963G>C	ENSP00000403655.2:p.Gln321His
ENST00000467459.6:c.953G>C	ENSP00000435889.2:p.Ser318Thr
ENST00000483127.2:c.948G>C	ENSP00000436469.2:p.Gln316His
ENST00000485271.6:c.930G>C	ENSP00000431264.2:p.Gln310His
ENST00000529892.6:c.955+190G>C	ENSP00000432528.2:n.955+190G>C
ENST00000533178.6:c.*259G>C	ENSP00000436430.2:n.*259G>C
ENST00000672314.2:c.930G>C	ENSP00000500828.2:p.Gln310His
ENST00000710952.2:c.1014G>C MANE Plus Clinical	ENSP00000518552.2:p.Gln338His
ENST00000672818.3:c.1005G>C	ENSP00000500891.1:p.Gln335His
ENST00000456914.7:c.930G>C MANE Select	ENSP00000407590.2:p.Gln310His
ENST00000671898.1:c.1518G>C	ENSP00000499896.1:p.Gln506His
ENST00000672011.1:c.*259G>C	ENSP00000500418.1:n.*259G>C
ENST00000672314.1:c.930G>C	ENSP00000500828.1:p.Gln310His
ENST00000672593.1:c.*1156G>C	ENSP00000500455.1:n.*1156G>C
ENST00000672764.1:c.*259G>C	ENSP00000500886.1:n.*259G>C
ENST00000672818.2:c.1005G>C	ENSP00000500891.1:p.Gln335His
ENST00000673134.1:c.*627G>C	ENSP00000500526.1:n.*627G>C
ENST00000354383.10:c.933G>C	ENSP00000346354.6:p.Gln311His
ENST00000355498.6:c.930G>C	ENSP00000347685.2:p.Gln310His
ENST00000372098.7:c.1005G>C	ENSP00000361170.3:p.Gln335His
ENST00000372104.5:c.930G>C	ENSP00000361176.1:p.Gln310His
ENST00000372110.7:c.975G>C	ENSP00000361182.3:p.Gln325His
ENST00000372115.7:c.972G>C	ENSP00000361187.3:p.Gln324His
ENST00000412971.5:c.546G>C	ENSP00000410263.1:p.Gln182His
ENST00000448481.5:c.963G>C	ENSP00000409718.1:p.Gln321His
ENST00000450313.5:c.1014G>C	ENSP00000408176.1:p.Gln338His
ENST00000456914.6:c.930G>C	ENSP00000407590.2:p.Gln310His
ENST00000462388.5:n.794G>C
ENST00000466231.1:n.295G>C
ENST00000467459.5:c.347G>C	ENSP00000435889.1:p.Ser116Thr
ENST00000475516.5:c.*743G>C	ENSP00000433843.1:n.*743G>C
ENST00000481571.5:c.*743G>C	ENSP00000436597.1:n.*743G>C
ENST00000482094.5:n.251G>C
ENST00000488731.6:c.188-277G>C	ENSP00000432330.1:n.188-277G>C
ENST00000528013.6:c.972G>C	ENSP00000433130.2:p.Gln324His
ENST00000529892.5:c.177+190G>C
ENST00000529984.5:c.188-277G>C	ENSP00000437093.1:n.188-277G>C
ENST00000531105.5:c.116-2396G>C	ENSP00000431292.1:n.116-2396G>C
ENST00000533178.5:c.559G>C	ENSP00000436430.1:n.559G>C
NM_001048171.1:c.972G>C	NP_001041636.1:p.Gln324His
NM_001048172.1:c.933G>C	NP_001041637.1:p.Gln311His
NM_001048173.1:c.930G>C	NP_001041638.1:p.Gln310His
NM_001048174.1:c.930G>C	NP_001041639.1:p.Gln310His
NM_001128425.1:c.1014G>C , LRG_220t1:c.1014G>C	NP_001121897.1:p.Gln338His
NM_001293190.1:c.975G>C	NP_001280119.1:p.Gln325His
NM_001293191.1:c.963G>C	NP_001280120.1:p.Gln321His
NM_001293192.1:c.654G>C	NP_001280121.1:p.Gln218His
NM_001293195.1:c.930G>C	NP_001280124.1:p.Gln310His
NM_001293196.1:c.654G>C	NP_001280125.1:p.Gln218His
NM_012222.2:c.1005G>C	NP_036354.1:p.Gln335His
XM_011541497.1:c.990G>C	XP_011539799.1:p.Gln330His
XM_011541498.1:c.972G>C	XP_011539800.1:p.Gln324His
XM_011541499.1:c.972G>C	XP_011539801.1:p.Gln324His
XM_011541500.1:c.972G>C	XP_011539802.1:p.Gln324His
XM_011541501.1:c.972G>C	XP_011539803.1:p.Gln324His
XM_011541502.1:c.972G>C	XP_011539804.1:p.Gln324His
XM_011541503.1:c.972G>C	XP_011539805.1:p.Gln324His
XM_011541504.1:c.963G>C	XP_011539806.1:p.Gln321His
XM_011541505.1:c.552G>C	XP_011539807.1:p.Gln184His
XM_011541506.1:c.552G>C	XP_011539808.1:p.Gln184His
XM_011541507.1:c.543G>C	XP_011539809.1:p.Gln181His
XM_011541508.1:c.558G>C	XP_011539810.1:p.Gln186His
XR_946658.1:n.1061G>C
NM_001350650.1:c.585G>C	NP_001337579.1:p.Gln195His
NM_001350651.1:c.585G>C	NP_001337580.1:p.Gln195His
NR_146882.1:n.1188G>C
NR_146883.1:n.1002G>C
XM_011541497.3:c.990G>C	XP_011539799.1:p.Gln330His
XM_011541500.3:c.972G>C	XP_011539802.1:p.Gln324His
XM_011541501.2:c.972G>C	XP_011539803.1:p.Gln324His
XM_011541502.2:c.972G>C	XP_011539804.1:p.Gln324His
XM_011541503.2:c.972G>C	XP_011539805.1:p.Gln324His
XM_011541504.2:c.963G>C	XP_011539806.1:p.Gln321His
XM_011541505.2:c.552G>C	XP_011539807.1:p.Gln184His
XM_011541506.2:c.552G>C	XP_011539808.1:p.Gln184His
XM_017001331.1:c.972G>C	XP_016856820.1:p.Gln324His
XM_017001332.1:c.972G>C	XP_016856821.1:p.Gln324His
XM_017001333.1:c.972G>C	XP_016856822.1:p.Gln324His
XM_017001334.1:c.933G>C	XP_016856823.1:p.Gln311His
XM_017001335.1:c.654G>C	XP_016856824.1:p.Gln218His
XM_017001336.1:c.585G>C	XP_016856825.1:p.Gln195His
XM_017001337.1:c.585G>C	XP_016856826.1:p.Gln195His
XM_024447244.1:c.585G>C	XP_024303012.1:p.Gln195His
XM_024447245.1:c.585G>C	XP_024303013.1:p.Gln195His
XM_024447248.1:c.543G>C	XP_024303016.1:p.Gln181His
XM_024447249.1:c.414G>C	XP_024303017.1:p.Gln138His
XM_024447250.1:c.414G>C	XP_024303018.1:p.Gln138His
XM_024447251.1:c.414G>C	XP_024303019.1:p.Gln138His
XR_001737190.1:n.975G>C
XR_001737192.1:n.787G>C
XR_002956643.1:n.967G>C
XR_002956644.1:n.1502G>C
XR_946658.2:n.1075G>C
NM_001048171.2:c.930G>C	NP_001041636.2:p.Gln310His
NM_001128425.2:c.1014G>C MANE Plus Clinical	NP_001121897.1:p.Gln338His
NM_001048172.2:c.933G>C	NP_001041637.1:p.Gln311His
NM_001048173.2:c.930G>C	NP_001041638.1:p.Gln310His
NM_001048174.2:c.930G>C MANE Select	NP_001041639.1:p.Gln310His
NM_001293190.2:c.975G>C	NP_001280119.1:p.Gln325His
NM_001293191.2:c.963G>C	NP_001280120.1:p.Gln321His
NM_001293192.2:c.654G>C	NP_001280121.1:p.Gln218His
NM_001293195.2:c.930G>C	NP_001280124.1:p.Gln310His
NM_001293196.2:c.654G>C	NP_001280125.1:p.Gln218His
NM_001350650.2:c.585G>C	NP_001337579.1:p.Gln195His
NM_001350651.2:c.585G>C	NP_001337580.1:p.Gln195His
NM_012222.3:c.1005G>C	NP_036354.1:p.Gln335His
NR_146882.2:n.1158G>C
NR_146883.2:n.1007G>C