Canonical Allele Identifier: CA417702311

Linked Data

MyVariant Identifiers: chr1:g.45805897A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45340225A>C , CM000663.2:g.45340225A>C GRCh38
NC_000001.10:g.45805897A>C , CM000663.1:g.45805897A>C GRCh37
NC_000001.9:g.45578484A>C NCBI36
NG_008189.1:g.5246T>G , LRG_220:g.5246T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.30T>G (MUTYH) ENSP00000410263.2:p.Arg10=
ENST00000529892.6:c.30T>G (MUTYH) ENSP00000432528.2:p.Arg10=
ENST00000710952.2:c.30T>G (MUTYH) MANE Plus Clinical ENSP00000518552.2:p.Arg10=
ENST00000672818.3:c.30T>G (MUTYH) ENSP00000500891.1:p.Arg10=
ENST00000372090.6:c.-28A>C (TOE1) MANE Select ENSP00000361162.5:n.-28A>C
ENST00000450313.6:c.30T>G (MUTYH) ENSP00000408176.2:p.Arg10=
ENST00000461495.6:c.30T>G (MUTYH) ENSP00000437166.1:p.Arg10=
ENST00000671856.1:n.8T>G (MUTYH)
ENST00000671898.1:c.541-5714T>G ENSP00000499896.1:n.541-5714T>G
ENST00000672011.1:c.30T>G (MUTYH) ENSP00000500418.1:p.Arg10=
ENST00000672818.2:c.30T>G (MUTYH) ENSP00000500891.1:p.Arg10=
ENST00000372090.5:c.-28A>C (TOE1) ENSP00000361162.5:n.-28A>C
ENST00000372098.7:c.30T>G (MUTYH) ENSP00000361170.3:p.Arg10=
ENST00000372110.7:c.30T>G (MUTYH) ENSP00000361182.3:p.Arg10=
ENST00000372115.7:c.30T>G (MUTYH) ENSP00000361187.3:p.Arg10=
ENST00000412971.5:c.30T>G (MUTYH) ENSP00000410263.1:p.Arg10=
ENST00000450313.5:c.30T>G (MUTYH) ENSP00000408176.1:p.Arg10=
ENST00000461495.5:c.30T>G (MUTYH) ENSP00000437166.1:p.Arg10=
ENST00000462387.5:n.208T>G (MUTYH)
ENST00000467940.5:c.30T>G (MUTYH) ENSP00000436478.1:p.Arg10=
ENST00000471337.5:n.51A>C (TOE1)
ENST00000476789.5:n.208T>G (MUTYH)
ENST00000477731.5:n.174A>C (TOE1)
ENST00000481139.5:n.191T>G (MUTYH)
ENST00000481571.5:c.30T>G (MUTYH) ENSP00000436597.1:p.Arg10=
ENST00000483642.5:n.173T>G (MUTYH)
ENST00000495703.5:n.5A>C (TOE1)
ENST00000525160.5:c.30T>G (MUTYH) ENSP00000431568.1:p.Arg10=
ENST00000529984.5:c.-13T>G (MUTYH) ENSP00000437093.1:n.-13T>G
ENST00000534453.1:n.11T>G (MUTYH)
NM_001048171.1:c.30T>G (MUTYH) NP_001041636.1:p.Arg10=
NM_001128425.1:c.30T>G , LRG_220t1:c.30T>G (MUTYH) NP_001121897.1:p.Arg10=
NM_001293190.1:c.30T>G (MUTYH) NP_001280119.1:p.Arg10=
NM_001293192.1:c.-225T>G (MUTYH) NP_001280121.1:n.-225T>G
NM_012222.2:c.30T>G (MUTYH) NP_036354.1:p.Arg10=
NM_025077.3:c.-28A>C (TOE1) NP_079353.3:n.-28A>C
XM_005270412.2:c.-28A>C (TOE1) XP_005270469.1:n.-28A>C
XM_005270413.3:c.-404A>C (TOE1) XP_005270470.1:n.-404A>C
XM_011540569.1:c.-312A>C (TOE1) XP_011538871.1:n.-312A>C
XM_011541503.1:c.30T>G (MUTYH) XP_011539805.1:p.Arg10=
XM_011541505.1:c.-86T>G (MUTYH) XP_011539807.1:n.-86T>G
XR_246230.2:n.250A>C (TOE1)
XR_426587.2:n.52A>C (TOE1)
XR_946532.1:n.52A>C (TOE1)
XR_946658.1:n.77T>G (MUTYH)
NM_001350650.1:c.-284T>G (MUTYH) NP_001337579.1:n.-284T>G
NM_001350651.1:c.-220T>G (MUTYH) NP_001337580.1:n.-220T>G
NR_146882.1:n.246T>G (MUTYH)
XM_005270412.4:c.-28A>C (TOE1) XP_005270469.1:n.-28A>C
XM_005270413.5:c.-404A>C (TOE1) XP_005270470.1:n.-404A>C
XM_011540569.3:c.-312A>C (TOE1) XP_011538871.1:n.-312A>C
XM_011541503.2:c.30T>G (MUTYH) XP_011539805.1:p.Arg10=
XM_011541505.2:c.-86T>G (MUTYH) XP_011539807.1:n.-86T>G
XM_017001331.1:c.-29T>G (MUTYH) XP_016856820.1:n.-29T>G
XM_017001332.1:c.-9T>G (MUTYH) XP_016856821.1:n.-9T>G
XM_017001335.1:c.-241T>G (MUTYH) XP_016856824.1:n.-241T>G
XM_017001336.1:c.-317T>G (MUTYH) XP_016856825.1:n.-317T>G
XM_024447244.1:c.-326T>G (MUTYH) XP_024303012.1:n.-326T>G
XM_024447248.1:c.-284T>G (MUTYH) XP_024303016.1:n.-284T>G
XM_024447249.1:c.-776T>G (MUTYH) XP_024303017.1:n.-776T>G
XM_024447250.1:c.-799T>G (MUTYH) XP_024303018.1:n.-799T>G
XM_024452837.1:c.-404A>C (TOE1) XP_024308605.1:n.-404A>C
XR_001736951.2:n.160A>C (TOE1)
XR_001737190.1:n.97T>G (MUTYH)
XR_002956643.1:n.205T>G (MUTYH)
XR_002956644.1:n.223T>G (MUTYH)
XR_002959287.1:n.475A>C (TOE1)
XR_246230.4:n.160A>C (TOE1)
XR_426587.4:n.52A>C (TOE1)
XR_946532.3:n.52A>C (TOE1)
XR_946658.2:n.91T>G (MUTYH)
NM_025077.4:c.-28A>C (TOE1) MANE Select NP_079353.3:n.-28A>C
NM_001048171.2:c.-13T>G (MUTYH) NP_001041636.2:n.-13T>G
NM_001128425.2:c.30T>G (MUTYH) MANE Plus Clinical NP_001121897.1:p.Arg10=
NM_001293190.2:c.30T>G (MUTYH) NP_001280119.1:p.Arg10=
NM_001293192.2:c.-225T>G (MUTYH) NP_001280121.1:n.-225T>G
NM_001350650.2:c.-284T>G (MUTYH) NP_001337579.1:n.-284T>G
NM_001350651.2:c.-220T>G (MUTYH) NP_001337580.1:n.-220T>G
NM_012222.3:c.30T>G (MUTYH) NP_036354.1:p.Arg10=
NR_146882.2:n.216T>G (MUTYH)