Canonical Allele Identifier: CA21836451

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 681433
• ClinVar RCV Id: RCV002453920 ; RCV002538307
• dbSNP Id: rs924192790
• gnomAD v4: 1-45331839-A-G
• MyVariant Identifiers: chr1:g.45797511A>G (hg19) ; chr1:g.45331839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331839A>G , CM000663.2:g.45331839A>G	GRCh38
NC_000001.10:g.45797511A>G , CM000663.1:g.45797511A>G	GRCh37
NC_000001.9:g.45570098A>G	NCBI36
NG_008189.1:g.13632T>C , LRG_220:g.13632T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.540T>C	ENSP00000410263.2:p.Thr180=
ENST00000435155.2:c.957T>C	ENSP00000403655.2:p.Thr319=
ENST00000467459.6:c.947T>C	ENSP00000435889.2:p.Leu316Pro
ENST00000483127.2:c.942T>C	ENSP00000436469.2:p.Thr314=
ENST00000485271.6:c.924T>C	ENSP00000431264.2:p.Thr308=
ENST00000529892.6:c.955+184T>C	ENSP00000432528.2:n.955+184T>C
ENST00000533178.6:c.*253T>C	ENSP00000436430.2:n.*253T>C
ENST00000672314.2:c.924T>C	ENSP00000500828.2:p.Thr308=
ENST00000710952.2:c.1008T>C MANE Plus Clinical	ENSP00000518552.2:p.Thr336=
ENST00000672818.3:c.999T>C	ENSP00000500891.1:p.Thr333=
ENST00000456914.7:c.924T>C MANE Select	ENSP00000407590.2:p.Thr308=
ENST00000671898.1:c.1512T>C	ENSP00000499896.1:p.Thr504=
ENST00000672011.1:c.*253T>C	ENSP00000500418.1:n.*253T>C
ENST00000672314.1:c.924T>C	ENSP00000500828.1:p.Thr308=
ENST00000672593.1:c.*1150T>C	ENSP00000500455.1:n.*1150T>C
ENST00000672764.1:c.*253T>C	ENSP00000500886.1:n.*253T>C
ENST00000672818.2:c.999T>C	ENSP00000500891.1:p.Thr333=
ENST00000673134.1:c.*621T>C	ENSP00000500526.1:n.*621T>C
ENST00000354383.10:c.927T>C	ENSP00000346354.6:p.Thr309=
ENST00000355498.6:c.924T>C	ENSP00000347685.2:p.Thr308=
ENST00000372098.7:c.999T>C	ENSP00000361170.3:p.Thr333=
ENST00000372104.5:c.924T>C	ENSP00000361176.1:p.Thr308=
ENST00000372110.7:c.969T>C	ENSP00000361182.3:p.Thr323=
ENST00000372115.7:c.966T>C	ENSP00000361187.3:p.Thr322=
ENST00000412971.5:c.540T>C	ENSP00000410263.1:p.Thr180=
ENST00000448481.5:c.957T>C	ENSP00000409718.1:p.Thr319=
ENST00000450313.5:c.1008T>C	ENSP00000408176.1:p.Thr336=
ENST00000456914.6:c.924T>C	ENSP00000407590.2:p.Thr308=
ENST00000462388.5:n.788T>C
ENST00000466231.1:n.289T>C
ENST00000467459.5:c.341T>C	ENSP00000435889.1:p.Leu114Pro
ENST00000475516.5:c.*737T>C	ENSP00000433843.1:n.*737T>C
ENST00000481571.5:c.*737T>C	ENSP00000436597.1:n.*737T>C
ENST00000482094.5:n.245T>C
ENST00000488731.6:c.188-283T>C	ENSP00000432330.1:n.188-283T>C
ENST00000528013.6:c.966T>C	ENSP00000433130.2:p.Thr322=
ENST00000529892.5:c.177+184T>C
ENST00000529984.5:c.188-283T>C	ENSP00000437093.1:n.188-283T>C
ENST00000531105.5:c.116-2402T>C	ENSP00000431292.1:n.116-2402T>C
ENST00000533178.5:c.553T>C	ENSP00000436430.1:n.553T>C
NM_001048171.1:c.966T>C	NP_001041636.1:p.Thr322=
NM_001048172.1:c.927T>C	NP_001041637.1:p.Thr309=
NM_001048173.1:c.924T>C	NP_001041638.1:p.Thr308=
NM_001048174.1:c.924T>C	NP_001041639.1:p.Thr308=
NM_001128425.1:c.1008T>C , LRG_220t1:c.1008T>C	NP_001121897.1:p.Thr336=
NM_001293190.1:c.969T>C	NP_001280119.1:p.Thr323=
NM_001293191.1:c.957T>C	NP_001280120.1:p.Thr319=
NM_001293192.1:c.648T>C	NP_001280121.1:p.Thr216=
NM_001293195.1:c.924T>C	NP_001280124.1:p.Thr308=
NM_001293196.1:c.648T>C	NP_001280125.1:p.Thr216=
NM_012222.2:c.999T>C	NP_036354.1:p.Thr333=
XM_011541497.1:c.984T>C	XP_011539799.1:p.Thr328=
XM_011541498.1:c.966T>C	XP_011539800.1:p.Thr322=
XM_011541499.1:c.966T>C	XP_011539801.1:p.Thr322=
XM_011541500.1:c.966T>C	XP_011539802.1:p.Thr322=
XM_011541501.1:c.966T>C	XP_011539803.1:p.Thr322=
XM_011541502.1:c.966T>C	XP_011539804.1:p.Thr322=
XM_011541503.1:c.966T>C	XP_011539805.1:p.Thr322=
XM_011541504.1:c.957T>C	XP_011539806.1:p.Thr319=
XM_011541505.1:c.546T>C	XP_011539807.1:p.Thr182=
XM_011541506.1:c.546T>C	XP_011539808.1:p.Thr182=
XM_011541507.1:c.537T>C	XP_011539809.1:p.Thr179=
XM_011541508.1:c.552T>C	XP_011539810.1:p.Thr184=
XR_946658.1:n.1055T>C
NM_001350650.1:c.579T>C	NP_001337579.1:p.Thr193=
NM_001350651.1:c.579T>C	NP_001337580.1:p.Thr193=
NR_146882.1:n.1182T>C
NR_146883.1:n.996T>C
XM_011541497.3:c.984T>C	XP_011539799.1:p.Thr328=
XM_011541500.3:c.966T>C	XP_011539802.1:p.Thr322=
XM_011541501.2:c.966T>C	XP_011539803.1:p.Thr322=
XM_011541502.2:c.966T>C	XP_011539804.1:p.Thr322=
XM_011541503.2:c.966T>C	XP_011539805.1:p.Thr322=
XM_011541504.2:c.957T>C	XP_011539806.1:p.Thr319=
XM_011541505.2:c.546T>C	XP_011539807.1:p.Thr182=
XM_011541506.2:c.546T>C	XP_011539808.1:p.Thr182=
XM_017001331.1:c.966T>C	XP_016856820.1:p.Thr322=
XM_017001332.1:c.966T>C	XP_016856821.1:p.Thr322=
XM_017001333.1:c.966T>C	XP_016856822.1:p.Thr322=
XM_017001334.1:c.927T>C	XP_016856823.1:p.Thr309=
XM_017001335.1:c.648T>C	XP_016856824.1:p.Thr216=
XM_017001336.1:c.579T>C	XP_016856825.1:p.Thr193=
XM_017001337.1:c.579T>C	XP_016856826.1:p.Thr193=
XM_024447244.1:c.579T>C	XP_024303012.1:p.Thr193=
XM_024447245.1:c.579T>C	XP_024303013.1:p.Thr193=
XM_024447248.1:c.537T>C	XP_024303016.1:p.Thr179=
XM_024447249.1:c.408T>C	XP_024303017.1:p.Thr136=
XM_024447250.1:c.408T>C	XP_024303018.1:p.Thr136=
XM_024447251.1:c.408T>C	XP_024303019.1:p.Thr136=
XR_001737190.1:n.969T>C
XR_001737192.1:n.781T>C
XR_002956643.1:n.961T>C
XR_002956644.1:n.1496T>C
XR_946658.2:n.1069T>C
NM_001048171.2:c.924T>C	NP_001041636.2:p.Thr308=
NM_001128425.2:c.1008T>C MANE Plus Clinical	NP_001121897.1:p.Thr336=
NM_001048172.2:c.927T>C	NP_001041637.1:p.Thr309=
NM_001048173.2:c.924T>C	NP_001041638.1:p.Thr308=
NM_001048174.2:c.924T>C MANE Select	NP_001041639.1:p.Thr308=
NM_001293190.2:c.969T>C	NP_001280119.1:p.Thr323=
NM_001293191.2:c.957T>C	NP_001280120.1:p.Thr319=
NM_001293192.2:c.648T>C	NP_001280121.1:p.Thr216=
NM_001293195.2:c.924T>C	NP_001280124.1:p.Thr308=
NM_001293196.2:c.648T>C	NP_001280125.1:p.Thr216=
NM_001350650.2:c.579T>C	NP_001337579.1:p.Thr193=
NM_001350651.2:c.579T>C	NP_001337580.1:p.Thr193=
NM_012222.3:c.999T>C	NP_036354.1:p.Thr333=
NR_146882.2:n.1152T>C
NR_146883.2:n.1001T>C