Canonical Allele Identifier: CA2473716349

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45340468C= , CM000663.2:g.45340468C= GRCh38
NC_000001.10:g.45806140C= , CM000663.1:g.45806140C= GRCh37
NC_000001.9:g.45578727C= NCBI36
NG_008189.1:g.5003G= , LRG_220:g.5003G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372090.6:c.52+164C= (TOE1) MANE Select ENSP00000361162.5:n.52+164C=
ENST00000671898.1:c.541-5957G= ENSP00000499896.1:n.541-5957G=
ENST00000672011.1:c.-214G= (MUTYH) ENSP00000500418.1:n.-214G=
ENST00000372090.5:c.52+164C= (TOE1) ENSP00000361162.5:n.52+164C=
ENST00000372115.7:c.-214G= (MUTYH) ENSP00000361187.3:n.-214G=
ENST00000450313.5:c.-214G= (MUTYH) ENSP00000408176.1:n.-214G=
ENST00000471337.5:n.130+164C= (TOE1)
ENST00000477731.5:n.271+146C= (TOE1)
ENST00000495703.5:n.248C= (TOE1)
NM_001048171.1:c.-214G= (MUTYH) NP_001041636.1:n.-214G=
NM_001128425.1:c.-214G= , LRG_220t1:c.-214G= (MUTYH) NP_001121897.1:n.-214G=
NM_001293190.1:c.-214G= (MUTYH) NP_001280119.1:n.-214G=
NM_001293192.1:c.-468G= (MUTYH) NP_001280121.1:n.-468G=
NM_012222.2:c.-214G= (MUTYH) NP_036354.1:n.-214G=
NM_025077.3:c.52+164C= (TOE1) NP_079353.3:n.52+164C=
XM_005270412.2:c.70+146C= (TOE1) XP_005270469.1:n.70+146C=
XM_005270413.3:c.-161C= (TOE1) XP_005270470.1:n.-161C=
XM_011540569.1:c.-233+164C= (TOE1) XP_011538871.1:n.-233+164C=
XR_246230.2:n.329+164C= (TOE1)
XR_426587.2:n.149+146C= (TOE1)
XR_946532.1:n.149+146C= (TOE1)
NM_001350650.1:c.-527G= (MUTYH) NP_001337579.1:n.-527G=
NM_001350651.1:c.-463G= (MUTYH) NP_001337580.1:n.-463G=
NR_146882.1:n.3G= (MUTYH)
XM_005270412.4:c.70+146C= (TOE1) XP_005270469.1:n.70+146C=
XM_005270413.5:c.-161C= (TOE1) XP_005270470.1:n.-161C=
XM_011540569.3:c.-233+164C= (TOE1) XP_011538871.1:n.-233+164C=
XM_024452837.1:c.-161C= (TOE1) XP_024308605.1:n.-161C=
XR_001736951.2:n.239+164C= (TOE1)
XR_002959287.1:n.554+164C= (TOE1)
XR_246230.4:n.239+164C= (TOE1)
XR_426587.4:n.149+146C= (TOE1)
XR_946532.3:n.149+146C= (TOE1)
NM_025077.4:c.52+164C= (TOE1) MANE Select NP_079353.3:n.52+164C=