Canonical Allele Identifier: CA736163190

Linked Data

dbSNP Id: rs1370276650
gnomAD v3: 1-45340798-G-A
gnomAD v4: 1-45340798-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45340798G>A , CM000663.2:g.45340798G>A GRCh38
NC_000001.10:g.45806470G>A , CM000663.1:g.45806470G>A GRCh37
NC_000001.9:g.45579057G>A NCBI36
NG_008189.1:g.4673C>T , LRG_220:g.4673C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372090.6:c.53-275G>A (TOE1) MANE Select ENSP00000361162.5:n.53-275G>A
ENST00000671898.1:c.541-6287C>T ENSP00000499896.1:n.541-6287C>T
ENST00000672011.1:c.-544C>T (MUTYH) ENSP00000500418.1:n.-544C>T
ENST00000372090.5:c.53-275G>A (TOE1) ENSP00000361162.5:n.53-275G>A
ENST00000471337.5:n.131-275G>A (TOE1)
ENST00000477731.5:n.272-275G>A (TOE1)
ENST00000495703.5:n.322+256G>A (TOE1)
NM_025077.3:c.53-275G>A (TOE1) NP_079353.3:n.53-275G>A
XM_005270412.2:c.71-275G>A (TOE1) XP_005270469.1:n.71-275G>A
XM_005270413.3:c.-87+256G>A (TOE1) XP_005270470.1:n.-87+256G>A
XM_011540569.1:c.-232-275G>A (TOE1) XP_011538871.1:n.-232-275G>A
XR_246230.2:n.330-275G>A (TOE1)
XR_426587.2:n.150-275G>A (TOE1)
XR_946532.1:n.150-275G>A (TOE1)
XM_005270412.4:c.71-275G>A (TOE1) XP_005270469.1:n.71-275G>A
XM_005270413.5:c.-87+256G>A (TOE1) XP_005270470.1:n.-87+256G>A
XM_011540569.3:c.-232-275G>A (TOE1) XP_011538871.1:n.-232-275G>A
XM_024452837.1:c.-87+256G>A (TOE1) XP_024308605.1:n.-87+256G>A
XR_001736951.2:n.240-275G>A (TOE1)
XR_002959287.1:n.555-275G>A (TOE1)
XR_246230.4:n.240-275G>A (TOE1)
XR_426587.4:n.150-275G>A (TOE1)
XR_946532.3:n.150-275G>A (TOE1)
NM_025077.4:c.53-275G>A (TOE1) MANE Select NP_079353.3:n.53-275G>A