Canonical Allele Identifier: CA21847467

Linked Data

dbSNP Id: rs996435665
gnomAD v3: 1-45340596-C-T
gnomAD v4: 1-45340596-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45340596C>T , CM000663.2:g.45340596C>T GRCh38
NC_000001.10:g.45806268C>T , CM000663.1:g.45806268C>T GRCh37
NC_000001.9:g.45578855C>T NCBI36
NG_008189.1:g.4875G>A , LRG_220:g.4875G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372090.6:c.52+292C>T (TOE1) MANE Select ENSP00000361162.5:n.52+292C>T
ENST00000671898.1:c.541-6085G>A ENSP00000499896.1:n.541-6085G>A
ENST00000672011.1:c.-342G>A (MUTYH) ENSP00000500418.1:n.-342G>A
ENST00000372090.5:c.52+292C>T (TOE1) ENSP00000361162.5:n.52+292C>T
ENST00000471337.5:n.130+292C>T (TOE1)
ENST00000477731.5:n.271+274C>T (TOE1)
ENST00000495703.5:n.322+54C>T (TOE1)
NM_025077.3:c.52+292C>T (TOE1) NP_079353.3:n.52+292C>T
XM_005270412.2:c.70+274C>T (TOE1) XP_005270469.1:n.70+274C>T
XM_005270413.3:c.-87+54C>T (TOE1) XP_005270470.1:n.-87+54C>T
XM_011540569.1:c.-233+292C>T (TOE1) XP_011538871.1:n.-233+292C>T
XR_246230.2:n.329+292C>T (TOE1)
XR_426587.2:n.149+274C>T (TOE1)
XR_946532.1:n.149+274C>T (TOE1)
XM_005270412.4:c.70+274C>T (TOE1) XP_005270469.1:n.70+274C>T
XM_005270413.5:c.-87+54C>T (TOE1) XP_005270470.1:n.-87+54C>T
XM_011540569.3:c.-233+292C>T (TOE1) XP_011538871.1:n.-233+292C>T
XM_024452837.1:c.-87+54C>T (TOE1) XP_024308605.1:n.-87+54C>T
XR_001736951.2:n.239+292C>T (TOE1)
XR_002959287.1:n.554+292C>T (TOE1)
XR_246230.4:n.239+292C>T (TOE1)
XR_426587.4:n.149+274C>T (TOE1)
XR_946532.3:n.149+274C>T (TOE1)
NM_025077.4:c.52+292C>T (TOE1) MANE Select NP_079353.3:n.52+292C>T