Canonical Allele Identifier: CA417879860

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 1767728
• ClinVar RCV Id: RCV002386971
• dbSNP Id: rs138833473
• MyVariant Identifiers: chr1:g.45797726G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332054G>A , CM000663.2:g.45332054G>A	GRCh38
NC_000001.10:g.45797726G>A , CM000663.1:g.45797726G>A	GRCh37
NC_000001.9:g.45570313G>A	NCBI36
NG_008189.1:g.13417C>T , LRG_220:g.13417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.498C>T	ENSP00000410263.2:p.Ser166=
ENST00000435155.2:c.915C>T	ENSP00000403655.2:p.Ser305=
ENST00000467459.6:c.882C>T	ENSP00000435889.2:p.Ser294=
ENST00000483127.2:c.900C>T	ENSP00000436469.2:p.Ser300=
ENST00000485271.6:c.882C>T	ENSP00000431264.2:p.Ser294=
ENST00000529892.6:c.924C>T	ENSP00000432528.2:p.Ser308=
ENST00000533178.6:c.*211C>T	ENSP00000436430.2:n.*211C>T
ENST00000672314.2:c.882C>T	ENSP00000500828.2:p.Ser294=
ENST00000710952.2:c.966C>T MANE Plus Clinical	ENSP00000518552.2:p.Ser322=
ENST00000672818.3:c.957C>T	ENSP00000500891.1:p.Ser319=
ENST00000456914.7:c.882C>T MANE Select	ENSP00000407590.2:p.Ser294=
ENST00000461495.6:c.*621C>T	ENSP00000437166.1:n.*621C>T
ENST00000671898.1:c.1470C>T	ENSP00000499896.1:p.Ser490=
ENST00000672011.1:c.*211C>T	ENSP00000500418.1:n.*211C>T
ENST00000672314.1:c.882C>T	ENSP00000500828.1:p.Ser294=
ENST00000672593.1:c.*935C>T	ENSP00000500455.1:n.*935C>T
ENST00000672764.1:c.*211C>T	ENSP00000500886.1:n.*211C>T
ENST00000672818.2:c.957C>T	ENSP00000500891.1:p.Ser319=
ENST00000673134.1:c.*579C>T	ENSP00000500526.1:n.*579C>T
ENST00000354383.10:c.885C>T	ENSP00000346354.6:p.Ser295=
ENST00000355498.6:c.882C>T	ENSP00000347685.2:p.Ser294=
ENST00000372098.7:c.957C>T	ENSP00000361170.3:p.Ser319=
ENST00000372104.5:c.882C>T	ENSP00000361176.1:p.Ser294=
ENST00000372110.7:c.927C>T	ENSP00000361182.3:p.Ser309=
ENST00000372115.7:c.924C>T	ENSP00000361187.3:p.Ser308=
ENST00000412971.5:c.498C>T	ENSP00000410263.1:p.Ser166=
ENST00000448481.5:c.915C>T	ENSP00000409718.1:p.Ser305=
ENST00000450313.5:c.966C>T	ENSP00000408176.1:p.Ser322=
ENST00000456914.6:c.882C>T	ENSP00000407590.2:p.Ser294=
ENST00000461495.5:c.*621C>T	ENSP00000437166.1:n.*621C>T
ENST00000462388.5:n.573C>T
ENST00000466231.1:n.247C>T
ENST00000467459.5:c.276C>T	ENSP00000435889.1:p.Ser92=
ENST00000470256.5:c.*211C>T	ENSP00000434985.1:n.*211C>T
ENST00000475516.5:c.*695C>T	ENSP00000433843.1:n.*695C>T
ENST00000481571.5:c.*695C>T	ENSP00000436597.1:n.*695C>T
ENST00000482094.5:n.30C>T
ENST00000488731.6:c.188-498C>T	ENSP00000432330.1:n.188-498C>T
ENST00000528013.6:c.924C>T	ENSP00000433130.2:p.Ser308=
ENST00000529892.5:c.146C>T
ENST00000529984.5:c.188-498C>T	ENSP00000437093.1:n.188-498C>T
ENST00000531105.5:c.115+2337C>T	ENSP00000431292.1:n.115+2337C>T
ENST00000533178.5:c.511C>T	ENSP00000436430.1:n.511C>T
NM_001048171.1:c.924C>T	NP_001041636.1:p.Ser308=
NM_001048172.1:c.885C>T	NP_001041637.1:p.Ser295=
NM_001048173.1:c.882C>T	NP_001041638.1:p.Ser294=
NM_001048174.1:c.882C>T	NP_001041639.1:p.Ser294=
NM_001128425.1:c.966C>T , LRG_220t1:c.966C>T	NP_001121897.1:p.Ser322=
NM_001293190.1:c.927C>T	NP_001280119.1:p.Ser309=
NM_001293191.1:c.915C>T	NP_001280120.1:p.Ser305=
NM_001293192.1:c.606C>T	NP_001280121.1:p.Ser202=
NM_001293195.1:c.882C>T	NP_001280124.1:p.Ser294=
NM_001293196.1:c.606C>T	NP_001280125.1:p.Ser202=
NM_012222.2:c.957C>T	NP_036354.1:p.Ser319=
XM_011541497.1:c.942C>T	XP_011539799.1:p.Ser314=
XM_011541498.1:c.924C>T	XP_011539800.1:p.Ser308=
XM_011541499.1:c.924C>T	XP_011539801.1:p.Ser308=
XM_011541500.1:c.924C>T	XP_011539802.1:p.Ser308=
XM_011541501.1:c.924C>T	XP_011539803.1:p.Ser308=
XM_011541502.1:c.924C>T	XP_011539804.1:p.Ser308=
XM_011541503.1:c.924C>T	XP_011539805.1:p.Ser308=
XM_011541504.1:c.915C>T	XP_011539806.1:p.Ser305=
XM_011541505.1:c.504C>T	XP_011539807.1:p.Ser168=
XM_011541506.1:c.504C>T	XP_011539808.1:p.Ser168=
XM_011541507.1:c.495C>T	XP_011539809.1:p.Ser165=
XM_011541508.1:c.510C>T	XP_011539810.1:p.Ser170=
XR_946658.1:n.1013C>T
NM_001350650.1:c.537C>T	NP_001337579.1:p.Ser179=
NM_001350651.1:c.537C>T	NP_001337580.1:p.Ser179=
NR_146882.1:n.1140C>T
NR_146883.1:n.954C>T
XM_011541497.3:c.942C>T	XP_011539799.1:p.Ser314=
XM_011541500.3:c.924C>T	XP_011539802.1:p.Ser308=
XM_011541501.2:c.924C>T	XP_011539803.1:p.Ser308=
XM_011541502.2:c.924C>T	XP_011539804.1:p.Ser308=
XM_011541503.2:c.924C>T	XP_011539805.1:p.Ser308=
XM_011541504.2:c.915C>T	XP_011539806.1:p.Ser305=
XM_011541505.2:c.504C>T	XP_011539807.1:p.Ser168=
XM_011541506.2:c.504C>T	XP_011539808.1:p.Ser168=
XM_017001331.1:c.924C>T	XP_016856820.1:p.Ser308=
XM_017001332.1:c.924C>T	XP_016856821.1:p.Ser308=
XM_017001333.1:c.924C>T	XP_016856822.1:p.Ser308=
XM_017001334.1:c.885C>T	XP_016856823.1:p.Ser295=
XM_017001335.1:c.606C>T	XP_016856824.1:p.Ser202=
XM_017001336.1:c.537C>T	XP_016856825.1:p.Ser179=
XM_017001337.1:c.537C>T	XP_016856826.1:p.Ser179=
XM_024447244.1:c.537C>T	XP_024303012.1:p.Ser179=
XM_024447245.1:c.537C>T	XP_024303013.1:p.Ser179=
XM_024447248.1:c.495C>T	XP_024303016.1:p.Ser165=
XM_024447249.1:c.366C>T	XP_024303017.1:p.Ser122=
XM_024447250.1:c.366C>T	XP_024303018.1:p.Ser122=
XM_024447251.1:c.366C>T	XP_024303019.1:p.Ser122=
XR_001737190.1:n.927C>T
XR_001737192.1:n.739C>T
XR_002956643.1:n.919C>T
XR_002956644.1:n.1454C>T
XR_946658.2:n.1027C>T
NM_001048171.2:c.882C>T	NP_001041636.2:p.Ser294=
NM_001128425.2:c.966C>T MANE Plus Clinical	NP_001121897.1:p.Ser322=
NM_001048172.2:c.885C>T	NP_001041637.1:p.Ser295=
NM_001048173.2:c.882C>T	NP_001041638.1:p.Ser294=
NM_001048174.2:c.882C>T MANE Select	NP_001041639.1:p.Ser294=
NM_001293190.2:c.927C>T	NP_001280119.1:p.Ser309=
NM_001293191.2:c.915C>T	NP_001280120.1:p.Ser305=
NM_001293192.2:c.606C>T	NP_001280121.1:p.Ser202=
NM_001293195.2:c.882C>T	NP_001280124.1:p.Ser294=
NM_001293196.2:c.606C>T	NP_001280125.1:p.Ser202=
NM_001350650.2:c.537C>T	NP_001337579.1:p.Ser179=
NM_001350651.2:c.537C>T	NP_001337580.1:p.Ser179=
NM_012222.3:c.957C>T	NP_036354.1:p.Ser319=
NR_146882.2:n.1110C>T
NR_146883.2:n.959C>T