Canonical Allele Identifier: CA21847671

Linked Data

dbSNP Id: rs527767217
gnomAD v2: 1-45806433-C-T
gnomAD v3: 1-45340761-C-T
gnomAD v4: 1-45340761-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45340761C>T , CM000663.2:g.45340761C>T GRCh38
NC_000001.10:g.45806433C>T , CM000663.1:g.45806433C>T GRCh37
NC_000001.9:g.45579020C>T NCBI36
NG_008189.1:g.4710G>A , LRG_220:g.4710G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372090.6:c.53-312C>T (TOE1) MANE Select ENSP00000361162.5:n.53-312C>T
ENST00000671898.1:c.541-6250G>A ENSP00000499896.1:n.541-6250G>A
ENST00000672011.1:c.-507G>A (MUTYH) ENSP00000500418.1:n.-507G>A
ENST00000372090.5:c.53-312C>T (TOE1) ENSP00000361162.5:n.53-312C>T
ENST00000471337.5:n.131-312C>T (TOE1)
ENST00000477731.5:n.272-312C>T (TOE1)
ENST00000495703.5:n.322+219C>T (TOE1)
NM_025077.3:c.53-312C>T (TOE1) NP_079353.3:n.53-312C>T
XM_005270412.2:c.71-312C>T (TOE1) XP_005270469.1:n.71-312C>T
XM_005270413.3:c.-87+219C>T (TOE1) XP_005270470.1:n.-87+219C>T
XM_011540569.1:c.-232-312C>T (TOE1) XP_011538871.1:n.-232-312C>T
XR_246230.2:n.330-312C>T (TOE1)
XR_426587.2:n.150-312C>T (TOE1)
XR_946532.1:n.150-312C>T (TOE1)
XM_005270412.4:c.71-312C>T (TOE1) XP_005270469.1:n.71-312C>T
XM_005270413.5:c.-87+219C>T (TOE1) XP_005270470.1:n.-87+219C>T
XM_011540569.3:c.-232-312C>T (TOE1) XP_011538871.1:n.-232-312C>T
XM_024452837.1:c.-87+219C>T (TOE1) XP_024308605.1:n.-87+219C>T
XR_001736951.2:n.240-312C>T (TOE1)
XR_002959287.1:n.555-312C>T (TOE1)
XR_246230.4:n.240-312C>T (TOE1)
XR_426587.4:n.150-312C>T (TOE1)
XR_946532.3:n.150-312C>T (TOE1)
NM_025077.4:c.53-312C>T (TOE1) MANE Select NP_079353.3:n.53-312C>T