Canonical Allele Identifier: CA340133165

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 2447314
• ClinVar RCV Id: RCV003176380
• dbSNP Id: rs2149121890
• MyVariant Identifiers: chr1:g.45797219G>A (hg19) ; chr1:g.45331547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331547G>A , CM000663.2:g.45331547G>A	GRCh38
NC_000001.10:g.45797219G>A , CM000663.1:g.45797219G>A	GRCh37
NC_000001.9:g.45569806G>A	NCBI36
NG_008189.1:g.13924C>T , LRG_220:g.13924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.728C>T	ENSP00000410263.2:p.Ala243Val
ENST00000435155.2:c.1145C>T	ENSP00000403655.2:p.Ala382Val
ENST00000467459.6:c.1135C>T	ENSP00000435889.2:p.Gln379Ter
ENST00000483127.2:c.1130C>T	ENSP00000436469.2:p.Ala377Val
ENST00000485271.6:c.1112C>T	ENSP00000431264.2:p.Ala371Val
ENST00000529892.6:c.965C>T	ENSP00000432528.2:p.Ala322Val
ENST00000533178.6:c.*441C>T	ENSP00000436430.2:n.*441C>T
ENST00000672314.2:c.1112C>T	ENSP00000500828.2:p.Ala371Val
ENST00000710952.2:c.1196C>T MANE Plus Clinical	ENSP00000518552.2:p.Ala399Val
ENST00000672818.3:c.1187C>T	ENSP00000500891.1:p.Ala396Val
ENST00000456914.7:c.1112C>T MANE Select	ENSP00000407590.2:p.Ala371Val
ENST00000671898.1:c.1700C>T	ENSP00000499896.1:p.Ala567Val
ENST00000672011.1:c.*441C>T	ENSP00000500418.1:n.*441C>T
ENST00000672314.1:c.1112C>T	ENSP00000500828.1:p.Ala371Val
ENST00000672593.1:c.*1338C>T	ENSP00000500455.1:n.*1338C>T
ENST00000672818.2:c.1187C>T	ENSP00000500891.1:p.Ala396Val
ENST00000673134.1:c.*809C>T	ENSP00000500526.1:n.*809C>T
ENST00000354383.10:c.1115C>T	ENSP00000346354.6:p.Ala372Val
ENST00000355498.6:c.1112C>T	ENSP00000347685.2:p.Ala371Val
ENST00000372098.7:c.1187C>T	ENSP00000361170.3:p.Ala396Val
ENST00000372104.5:c.1112C>T	ENSP00000361176.1:p.Ala371Val
ENST00000372110.7:c.1157C>T	ENSP00000361182.3:p.Ala386Val
ENST00000372115.7:c.1154C>T	ENSP00000361187.3:p.Ala385Val
ENST00000448481.5:c.1145C>T	ENSP00000409718.1:p.Ala382Val
ENST00000450313.5:c.1196C>T	ENSP00000408176.1:p.Ala399Val
ENST00000456914.6:c.1112C>T	ENSP00000407590.2:p.Ala371Val
ENST00000467459.5:c.529C>T	ENSP00000435889.1:p.Gln177Ter
ENST00000475516.5:c.*925C>T	ENSP00000433843.1:n.*925C>T
ENST00000481571.5:c.*925C>T	ENSP00000436597.1:n.*925C>T
ENST00000482094.5:n.433C>T
ENST00000488731.6:c.197C>T	ENSP00000432330.1:p.Ala66Val
ENST00000528013.6:c.1154C>T	ENSP00000433130.2:p.Ala385Val
ENST00000529892.5:c.187C>T
ENST00000529984.5:c.197C>T	ENSP00000437093.1:p.Ala66Val
ENST00000531105.5:c.116-2110C>T	ENSP00000431292.1:n.116-2110C>T
ENST00000533178.5:c.741C>T	ENSP00000436430.1:n.741C>T
NM_001048171.1:c.1154C>T	NP_001041636.1:p.Ala385Val
NM_001048172.1:c.1115C>T	NP_001041637.1:p.Ala372Val
NM_001048173.1:c.1112C>T	NP_001041638.1:p.Ala371Val
NM_001048174.1:c.1112C>T	NP_001041639.1:p.Ala371Val
NM_001128425.1:c.1196C>T , LRG_220t1:c.1196C>T	NP_001121897.1:p.Ala399Val
NM_001293190.1:c.1157C>T	NP_001280119.1:p.Ala386Val
NM_001293191.1:c.1145C>T	NP_001280120.1:p.Ala382Val
NM_001293192.1:c.836C>T	NP_001280121.1:p.Ala279Val
NM_001293195.1:c.1112C>T	NP_001280124.1:p.Ala371Val
NM_001293196.1:c.836C>T	NP_001280125.1:p.Ala279Val
NM_012222.2:c.1187C>T	NP_036354.1:p.Ala396Val
XM_011541497.1:c.1172C>T	XP_011539799.1:p.Ala391Val
XM_011541498.1:c.1154C>T	XP_011539800.1:p.Ala385Val
XM_011541499.1:c.1154C>T	XP_011539801.1:p.Ala385Val
XM_011541500.1:c.1154C>T	XP_011539802.1:p.Ala385Val
XM_011541501.1:c.1154C>T	XP_011539803.1:p.Ala385Val
XM_011541502.1:c.1154C>T	XP_011539804.1:p.Ala385Val
XM_011541503.1:c.1154C>T	XP_011539805.1:p.Ala385Val
XM_011541504.1:c.1145C>T	XP_011539806.1:p.Ala382Val
XM_011541505.1:c.734C>T	XP_011539807.1:p.Ala245Val
XM_011541506.1:c.734C>T	XP_011539808.1:p.Ala245Val
XM_011541507.1:c.725C>T	XP_011539809.1:p.Ala242Val
XM_011541508.1:c.740C>T	XP_011539810.1:p.Ala247Val
XR_946658.1:n.1243C>T
NM_001350650.1:c.767C>T	NP_001337579.1:p.Ala256Val
NM_001350651.1:c.767C>T	NP_001337580.1:p.Ala256Val
NR_146882.1:n.1370C>T
NR_146883.1:n.1184C>T
XM_011541497.3:c.1172C>T	XP_011539799.1:p.Ala391Val
XM_011541500.3:c.1154C>T	XP_011539802.1:p.Ala385Val
XM_011541501.2:c.1154C>T	XP_011539803.1:p.Ala385Val
XM_011541502.2:c.1154C>T	XP_011539804.1:p.Ala385Val
XM_011541503.2:c.1154C>T	XP_011539805.1:p.Ala385Val
XM_011541504.2:c.1145C>T	XP_011539806.1:p.Ala382Val
XM_011541505.2:c.734C>T	XP_011539807.1:p.Ala245Val
XM_011541506.2:c.734C>T	XP_011539808.1:p.Ala245Val
XM_017001331.1:c.1154C>T	XP_016856820.1:p.Ala385Val
XM_017001332.1:c.1154C>T	XP_016856821.1:p.Ala385Val
XM_017001333.1:c.1154C>T	XP_016856822.1:p.Ala385Val
XM_017001334.1:c.1115C>T	XP_016856823.1:p.Ala372Val
XM_017001335.1:c.836C>T	XP_016856824.1:p.Ala279Val
XM_017001336.1:c.767C>T	XP_016856825.1:p.Ala256Val
XM_017001337.1:c.767C>T	XP_016856826.1:p.Ala256Val
XM_024447244.1:c.767C>T	XP_024303012.1:p.Ala256Val
XM_024447245.1:c.767C>T	XP_024303013.1:p.Ala256Val
XM_024447248.1:c.725C>T	XP_024303016.1:p.Ala242Val
XM_024447249.1:c.596C>T	XP_024303017.1:p.Ala199Val
XM_024447250.1:c.596C>T	XP_024303018.1:p.Ala199Val
XM_024447251.1:c.596C>T	XP_024303019.1:p.Ala199Val
XR_001737190.1:n.1157C>T
XR_001737192.1:n.969C>T
XR_002956643.1:n.1149C>T
XR_002956644.1:n.1684C>T
XR_946658.2:n.1257C>T
NM_001048171.2:c.1112C>T	NP_001041636.2:p.Ala371Val
NM_001128425.2:c.1196C>T MANE Plus Clinical	NP_001121897.1:p.Ala399Val
NM_001048172.2:c.1115C>T	NP_001041637.1:p.Ala372Val
NM_001048173.2:c.1112C>T	NP_001041638.1:p.Ala371Val
NM_001048174.2:c.1112C>T MANE Select	NP_001041639.1:p.Ala371Val
NM_001293190.2:c.1157C>T	NP_001280119.1:p.Ala386Val
NM_001293191.2:c.1145C>T	NP_001280120.1:p.Ala382Val
NM_001293192.2:c.836C>T	NP_001280121.1:p.Ala279Val
NM_001293195.2:c.1112C>T	NP_001280124.1:p.Ala371Val
NM_001293196.2:c.836C>T	NP_001280125.1:p.Ala279Val
NM_001350650.2:c.767C>T	NP_001337579.1:p.Ala256Val
NM_001350651.2:c.767C>T	NP_001337580.1:p.Ala256Val
NM_012222.3:c.1187C>T	NP_036354.1:p.Ala396Val
NR_146882.2:n.1340C>T
NR_146883.2:n.1189C>T