Canonical Allele Identifier: CA417701971

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 3074711
• ClinVar RCV Id: RCV004014245
• dbSNP Id: rs2149087408
• gnomAD v4: 1-45329321-G-A
• MyVariant Identifiers: chr1:g.45794993G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45329321G>A , CM000663.2:g.45329321G>A	GRCh38
NC_000001.10:g.45794993G>A , CM000663.1:g.45794993G>A	GRCh37
NC_000001.9:g.45567580G>A	NCBI36
NG_008189.1:g.16150C>T , LRG_220:g.16150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.1167C>T	ENSP00000410263.2:p.Asn389=
ENST00000435155.2:c.1584C>T	ENSP00000403655.2:p.Asn528=
ENST00000467459.6:c.*413C>T	ENSP00000435889.2:n.*413C>T
ENST00000483127.2:c.1569C>T	ENSP00000436469.2:p.Asn523=
ENST00000485271.6:c.*294C>T	ENSP00000431264.2:n.*294C>T
ENST00000529892.6:c.1404C>T	ENSP00000432528.2:p.Asn468=
ENST00000533178.6:c.*880C>T	ENSP00000436430.2:n.*880C>T
ENST00000672314.2:c.1551C>T	ENSP00000500828.2:p.Asn517=
ENST00000710952.2:c.1635C>T MANE Plus Clinical	ENSP00000518552.2:p.Asn545=
ENST00000672818.3:c.1626C>T	ENSP00000500891.1:p.Asn542=
ENST00000456914.7:c.1551C>T MANE Select	ENSP00000407590.2:p.Asn517=
ENST00000671898.1:c.*294C>T	ENSP00000499896.1:n.*294C>T
ENST00000672011.1:c.*880C>T	ENSP00000500418.1:n.*880C>T
ENST00000672818.2:c.1626C>T	ENSP00000500891.1:p.Asn542=
ENST00000354383.10:c.1554C>T	ENSP00000346354.6:p.Asn518=
ENST00000355498.6:c.1551C>T	ENSP00000347685.2:p.Asn517=
ENST00000372098.7:c.1626C>T	ENSP00000361170.3:p.Asn542=
ENST00000372104.5:c.1551C>T	ENSP00000361176.1:p.Asn517=
ENST00000372110.7:c.1596C>T	ENSP00000361182.3:p.Asn532=
ENST00000372115.7:c.1593C>T	ENSP00000361187.3:p.Asn531=
ENST00000448481.5:c.1584C>T	ENSP00000409718.1:p.Asn528=
ENST00000450313.5:c.1635C>T	ENSP00000408176.1:p.Asn545=
ENST00000456914.6:c.1551C>T	ENSP00000407590.2:p.Asn517=
ENST00000467459.5:c.968C>T	ENSP00000435889.1:n.968C>T
ENST00000475516.5:c.*1364C>T	ENSP00000433843.1:n.*1364C>T
ENST00000481571.5:c.*1364C>T	ENSP00000436597.1:n.*1364C>T
ENST00000482094.5:n.872C>T
ENST00000485271.5:c.428C>T
ENST00000488731.6:c.636C>T	ENSP00000432330.1:p.Asn212=
ENST00000528013.6:c.1593C>T	ENSP00000433130.2:p.Asn531=
ENST00000529892.5:c.626C>T
ENST00000529984.5:c.636C>T	ENSP00000437093.1:p.Asn212=
ENST00000531105.5:c.*43C>T	ENSP00000431292.1:n.*43C>T
ENST00000533178.5:c.1180C>T	ENSP00000436430.1:n.1180C>T
NM_001048171.1:c.1593C>T	NP_001041636.1:p.Asn531=
NM_001048172.1:c.1554C>T	NP_001041637.1:p.Asn518=
NM_001048173.1:c.1551C>T	NP_001041638.1:p.Asn517=
NM_001048174.1:c.1551C>T	NP_001041639.1:p.Asn517=
NM_001128425.1:c.1635C>T , LRG_220t1:c.1635C>T	NP_001121897.1:p.Asn545=
NM_001293190.1:c.1596C>T	NP_001280119.1:p.Asn532=
NM_001293191.1:c.1584C>T	NP_001280120.1:p.Asn528=
NM_001293192.1:c.1275C>T	NP_001280121.1:p.Asn425=
NM_001293195.1:c.1551C>T	NP_001280124.1:p.Asn517=
NM_001293196.1:c.1275C>T	NP_001280125.1:p.Asn425=
NM_012222.2:c.1626C>T	NP_036354.1:p.Asn542=
XM_011541497.1:c.1611C>T	XP_011539799.1:p.Asn537=
XM_011541498.1:c.1593C>T	XP_011539800.1:p.Asn531=
XM_011541499.1:c.1593C>T	XP_011539801.1:p.Asn531=
XM_011541500.1:c.1593C>T	XP_011539802.1:p.Asn531=
XM_011541501.1:c.1593C>T	XP_011539803.1:p.Asn531=
XM_011541502.1:c.1593C>T	XP_011539804.1:p.Asn531=
XM_011541503.1:c.1593C>T	XP_011539805.1:p.Asn531=
XM_011541504.1:c.1584C>T	XP_011539806.1:p.Asn528=
XM_011541505.1:c.1173C>T	XP_011539807.1:p.Asn391=
XM_011541506.1:c.1173C>T	XP_011539808.1:p.Asn391=
XM_011541507.1:c.1164C>T	XP_011539809.1:p.Asn388=
XM_011541508.1:c.1179C>T	XP_011539810.1:p.Asn393=
XR_946658.1:n.1862C>T
NM_001350650.1:c.1206C>T	NP_001337579.1:p.Asn402=
NM_001350651.1:c.1206C>T	NP_001337580.1:p.Asn402=
NR_146882.1:n.1989C>T
NR_146883.1:n.1803C>T
XM_011541497.3:c.1611C>T	XP_011539799.1:p.Asn537=
XM_011541500.3:c.1593C>T	XP_011539802.1:p.Asn531=
XM_011541501.2:c.1593C>T	XP_011539803.1:p.Asn531=
XM_011541502.2:c.1593C>T	XP_011539804.1:p.Asn531=
XM_011541503.2:c.1593C>T	XP_011539805.1:p.Asn531=
XM_011541504.2:c.1584C>T	XP_011539806.1:p.Asn528=
XM_011541505.2:c.1173C>T	XP_011539807.1:p.Asn391=
XM_011541506.2:c.1173C>T	XP_011539808.1:p.Asn391=
XM_017001331.1:c.1593C>T	XP_016856820.1:p.Asn531=
XM_017001332.1:c.1593C>T	XP_016856821.1:p.Asn531=
XM_017001333.1:c.1593C>T	XP_016856822.1:p.Asn531=
XM_017001334.1:c.1554C>T	XP_016856823.1:p.Asn518=
XM_017001335.1:c.1275C>T	XP_016856824.1:p.Asn425=
XM_017001336.1:c.1206C>T	XP_016856825.1:p.Asn402=
XM_017001337.1:c.1206C>T	XP_016856826.1:p.Asn402=
XM_024447244.1:c.1206C>T	XP_024303012.1:p.Asn402=
XM_024447245.1:c.1206C>T	XP_024303013.1:p.Asn402=
XM_024447248.1:c.1164C>T	XP_024303016.1:p.Asn388=
XM_024447249.1:c.1035C>T	XP_024303017.1:p.Asn345=
XM_024447250.1:c.1035C>T	XP_024303018.1:p.Asn345=
XM_024447251.1:c.1035C>T	XP_024303019.1:p.Asn345=
XR_001737190.1:n.1776C>T
XR_001737192.1:n.1588C>T
XR_002956643.1:n.1768C>T
XR_002956644.1:n.2303C>T
XR_946658.2:n.1876C>T
NM_001048171.2:c.1551C>T	NP_001041636.2:p.Asn517=
NM_001128425.2:c.1635C>T MANE Plus Clinical	NP_001121897.1:p.Asn545=
NM_001048172.2:c.1554C>T	NP_001041637.1:p.Asn518=
NM_001048173.2:c.1551C>T	NP_001041638.1:p.Asn517=
NM_001048174.2:c.1551C>T MANE Select	NP_001041639.1:p.Asn517=
NM_001293190.2:c.1596C>T	NP_001280119.1:p.Asn532=
NM_001293191.2:c.1584C>T	NP_001280120.1:p.Asn528=
NM_001293192.2:c.1275C>T	NP_001280121.1:p.Asn425=
NM_001293195.2:c.1551C>T	NP_001280124.1:p.Asn517=
NM_001293196.2:c.1275C>T	NP_001280125.1:p.Asn425=
NM_001350650.2:c.1206C>T	NP_001337579.1:p.Asn402=
NM_001350651.2:c.1206C>T	NP_001337580.1:p.Asn402=
NM_012222.3:c.1626C>T	NP_036354.1:p.Asn542=
NR_146882.2:n.1959C>T
NR_146883.2:n.1808C>T