Canonical Allele Identifier: CA16610168

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 406826
• ClinVar RCV Id: RCV000465640
• dbSNP Id: rs1553123017
• MyVariant Identifiers: chr1:g.45795078_45795079dupCA (hg19) ; chr1:g.45795077_45795078insCA (hg19) ; chr1:g.45329406_45329407dupCA (hg38) ; chr1:g.45329405_45329406insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45329407_45329408dup , CM000663.2:g.45329407_45329408dup	GRCh38
NC_000001.10:g.45795079_45795080dup , CM000663.1:g.45795079_45795080dup	GRCh37
NC_000001.9:g.45567666_45567667dup	NCBI36
NG_008189.1:g.16064_16065dup , LRG_220:g.16064_16065dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.1081_1082dup	ENSP00000410263.2:p.Ser362AlafsTer?
ENST00000435155.2:c.1498_1499dup	ENSP00000403655.2:p.Ser501AlafsTer?
ENST00000467459.6:c.*327_*328dup	ENSP00000435889.2:n.*327_*328dup
ENST00000483127.2:c.1483_1484dup	ENSP00000436469.2:p.Ser496AlafsTer?
ENST00000485271.6:c.*208_*209dup	ENSP00000431264.2:n.*208_*209dup
ENST00000529892.6:c.1318_1319dup	ENSP00000432528.2:p.Ser441AlafsTer?
ENST00000533178.6:c.*794_*795dup	ENSP00000436430.2:n.*794_*795dup
ENST00000672314.2:c.1465_1466dup	ENSP00000500828.2:p.Ser490AlafsTer?
ENST00000710952.2:c.1549_1550dup MANE Plus Clinical	ENSP00000518552.2:p.Ser518AlafsTer?
ENST00000672818.3:c.1540_1541dup	ENSP00000500891.1:p.Ser515AlafsTer?
ENST00000456914.7:c.1465_1466dup MANE Select	ENSP00000407590.2:p.Ser490AlafsTer?
ENST00000671898.1:c.*208_*209dup	ENSP00000499896.1:n.*208_*209dup
ENST00000672011.1:c.*794_*795dup	ENSP00000500418.1:n.*794_*795dup
ENST00000672818.2:c.1540_1541dup	ENSP00000500891.1:p.Ser515AlafsTer?
ENST00000354383.10:c.1468_1469dup	ENSP00000346354.6:p.Ser491AlafsTer?
ENST00000355498.6:c.1465_1466dup	ENSP00000347685.2:p.Ser490AlafsTer?
ENST00000372098.7:c.1540_1541dup	ENSP00000361170.3:p.Ser515AlafsTer?
ENST00000372104.5:c.1465_1466dup	ENSP00000361176.1:p.Ser490AlafsTer?
ENST00000372110.7:c.1510_1511dup	ENSP00000361182.3:p.Ser505AlafsTer?
ENST00000372115.7:c.1507_1508dup	ENSP00000361187.3:p.Ser504AlafsTer?
ENST00000448481.5:c.1498_1499dup	ENSP00000409718.1:p.Ser501AlafsTer?
ENST00000450313.5:c.1549_1550dup	ENSP00000408176.1:p.Ser518AlafsTer?
ENST00000456914.6:c.1465_1466dup	ENSP00000407590.2:p.Ser490AlafsTer?
ENST00000467459.5:c.882_883dup	ENSP00000435889.1:n.882_883dup
ENST00000475516.5:c.*1278_*1279dup	ENSP00000433843.1:n.*1278_*1279dup
ENST00000481571.5:c.*1278_*1279dup	ENSP00000436597.1:n.*1278_*1279dup
ENST00000482094.5:n.786_787dup
ENST00000485271.5:c.342_343dup
ENST00000488731.6:c.550_551dup	ENSP00000432330.1:p.Ser185AlafsTer?
ENST00000528013.6:c.1507_1508dup	ENSP00000433130.2:p.Ser504AlafsTer?
ENST00000529892.5:c.540_541dup
ENST00000529984.5:c.550_551dup	ENSP00000437093.1:p.Ser185AlafsTer?
ENST00000531105.5:c.146_147dup	ENSP00000431292.1:p.Gln50CysfsTer?
ENST00000533178.5:c.1094_1095dup	ENSP00000436430.1:n.1094_1095dup
NM_001048171.1:c.1507_1508dup	NP_001041636.1:p.Ser504AlafsTer?
NM_001048172.1:c.1468_1469dup	NP_001041637.1:p.Ser491AlafsTer?
NM_001048173.1:c.1465_1466dup	NP_001041638.1:p.Ser490AlafsTer?
NM_001048174.1:c.1465_1466dup	NP_001041639.1:p.Ser490AlafsTer?
NM_001128425.1:c.1549_1550dup , LRG_220t1:c.1549_1550dup	NP_001121897.1:p.Ser518AlafsTer?
NM_001293190.1:c.1510_1511dup	NP_001280119.1:p.Ser505AlafsTer?
NM_001293191.1:c.1498_1499dup	NP_001280120.1:p.Ser501AlafsTer?
NM_001293192.1:c.1189_1190dup	NP_001280121.1:p.Ser398AlafsTer?
NM_001293195.1:c.1465_1466dup	NP_001280124.1:p.Ser490AlafsTer?
NM_001293196.1:c.1189_1190dup	NP_001280125.1:p.Ser398AlafsTer?
NM_012222.2:c.1540_1541dup	NP_036354.1:p.Ser515AlafsTer?
XM_011541497.1:c.1525_1526dup	XP_011539799.1:p.Ser510AlafsTer?
XM_011541498.1:c.1507_1508dup	XP_011539800.1:p.Ser504AlafsTer?
XM_011541499.1:c.1507_1508dup	XP_011539801.1:p.Ser504AlafsTer?
XM_011541500.1:c.1507_1508dup	XP_011539802.1:p.Ser504AlafsTer?
XM_011541501.1:c.1507_1508dup	XP_011539803.1:p.Ser504AlafsTer?
XM_011541502.1:c.1507_1508dup	XP_011539804.1:p.Ser504AlafsTer?
XM_011541503.1:c.1507_1508dup	XP_011539805.1:p.Ser504AlafsTer?
XM_011541504.1:c.1498_1499dup	XP_011539806.1:p.Ser501AlafsTer?
XM_011541505.1:c.1087_1088dup	XP_011539807.1:p.Ser364AlafsTer?
XM_011541506.1:c.1087_1088dup	XP_011539808.1:p.Ser364AlafsTer?
XM_011541507.1:c.1078_1079dup	XP_011539809.1:p.Ser361AlafsTer?
XM_011541508.1:c.1093_1094dup	XP_011539810.1:p.Ser366AlafsTer?
XR_946658.1:n.1776_1777dup
NM_001350650.1:c.1120_1121dup	NP_001337579.1:p.Ser375AlafsTer?
NM_001350651.1:c.1120_1121dup	NP_001337580.1:p.Ser375AlafsTer?
NR_146882.1:n.1903_1904dup
NR_146883.1:n.1717_1718dup
XM_011541497.3:c.1525_1526dup	XP_011539799.1:p.Ser510AlafsTer?
XM_011541500.3:c.1507_1508dup	XP_011539802.1:p.Ser504AlafsTer?
XM_011541501.2:c.1507_1508dup	XP_011539803.1:p.Ser504AlafsTer?
XM_011541502.2:c.1507_1508dup	XP_011539804.1:p.Ser504AlafsTer?
XM_011541503.2:c.1507_1508dup	XP_011539805.1:p.Ser504AlafsTer?
XM_011541504.2:c.1498_1499dup	XP_011539806.1:p.Ser501AlafsTer?
XM_011541505.2:c.1087_1088dup	XP_011539807.1:p.Ser364AlafsTer?
XM_011541506.2:c.1087_1088dup	XP_011539808.1:p.Ser364AlafsTer?
XM_017001331.1:c.1507_1508dup	XP_016856820.1:p.Ser504AlafsTer?
XM_017001332.1:c.1507_1508dup	XP_016856821.1:p.Ser504AlafsTer?
XM_017001333.1:c.1507_1508dup	XP_016856822.1:p.Ser504AlafsTer?
XM_017001334.1:c.1468_1469dup	XP_016856823.1:p.Ser491AlafsTer?
XM_017001335.1:c.1189_1190dup	XP_016856824.1:p.Ser398AlafsTer?
XM_017001336.1:c.1120_1121dup	XP_016856825.1:p.Ser375AlafsTer?
XM_017001337.1:c.1120_1121dup	XP_016856826.1:p.Ser375AlafsTer?
XM_024447244.1:c.1120_1121dup	XP_024303012.1:p.Ser375AlafsTer?
XM_024447245.1:c.1120_1121dup	XP_024303013.1:p.Ser375AlafsTer?
XM_024447248.1:c.1078_1079dup	XP_024303016.1:p.Ser361AlafsTer?
XM_024447249.1:c.949_950dup	XP_024303017.1:p.Ser318AlafsTer?
XM_024447250.1:c.949_950dup	XP_024303018.1:p.Ser318AlafsTer?
XM_024447251.1:c.949_950dup	XP_024303019.1:p.Ser318AlafsTer?
XR_001737190.1:n.1690_1691dup
XR_001737192.1:n.1502_1503dup
XR_002956643.1:n.1682_1683dup
XR_002956644.1:n.2217_2218dup
XR_946658.2:n.1790_1791dup
NM_001048171.2:c.1465_1466dup	NP_001041636.2:p.Ser490AlafsTer?
NM_001128425.2:c.1549_1550dup MANE Plus Clinical	NP_001121897.1:p.Ser518AlafsTer?
NM_001048172.2:c.1468_1469dup	NP_001041637.1:p.Ser491AlafsTer?
NM_001048173.2:c.1465_1466dup	NP_001041638.1:p.Ser490AlafsTer?
NM_001048174.2:c.1465_1466dup MANE Select	NP_001041639.1:p.Ser490AlafsTer?
NM_001293190.2:c.1510_1511dup	NP_001280119.1:p.Ser505AlafsTer?
NM_001293191.2:c.1498_1499dup	NP_001280120.1:p.Ser501AlafsTer?
NM_001293192.2:c.1189_1190dup	NP_001280121.1:p.Ser398AlafsTer?
NM_001293195.2:c.1465_1466dup	NP_001280124.1:p.Ser490AlafsTer?
NM_001293196.2:c.1189_1190dup	NP_001280125.1:p.Ser398AlafsTer?
NM_001350650.2:c.1120_1121dup	NP_001337579.1:p.Ser375AlafsTer?
NM_001350651.2:c.1120_1121dup	NP_001337580.1:p.Ser375AlafsTer?
NM_012222.3:c.1540_1541dup	NP_036354.1:p.Ser515AlafsTer?
NR_146882.2:n.1873_1874dup
NR_146883.2:n.1722_1723dup