Canonical Allele Identifier: CA2645383523

Gene: TOE1 MUTYH

Linked Data

• dbSNP Id: rs2149251132
• gnomAD v4: 1-45340469-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45340469T>C , CM000663.2:g.45340469T>C	GRCh38
NC_000001.10:g.45806141T>C , CM000663.1:g.45806141T>C	GRCh37
NC_000001.9:g.45578728T>C	NCBI36
NG_008189.1:g.5002A>G , LRG_220:g.5002A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372090.6:c.52+165T>C (TOE1) MANE Select	ENSP00000361162.5:n.52+165T>C
ENST00000671898.1:c.541-5958A>G	ENSP00000499896.1:n.541-5958A>G
ENST00000672011.1:c.-215A>G (MUTYH)	ENSP00000500418.1:n.-215A>G
ENST00000372090.5:c.52+165T>C (TOE1)	ENSP00000361162.5:n.52+165T>C
ENST00000372115.7:c.-215A>G (MUTYH)	ENSP00000361187.3:n.-215A>G
ENST00000450313.5:c.-215A>G (MUTYH)	ENSP00000408176.1:n.-215A>G
ENST00000471337.5:n.130+165T>C (TOE1)
ENST00000477731.5:n.271+147T>C (TOE1)
ENST00000495703.5:n.249T>C (TOE1)
NM_001048171.1:c.-215A>G (MUTYH)	NP_001041636.1:n.-215A>G
NM_001128425.1:c.-215A>G , LRG_220t1:c.-215A>G (MUTYH)	NP_001121897.1:n.-215A>G
NM_001293190.1:c.-215A>G (MUTYH)	NP_001280119.1:n.-215A>G
NM_001293192.1:c.-469A>G (MUTYH)	NP_001280121.1:n.-469A>G
NM_012222.2:c.-215A>G (MUTYH)	NP_036354.1:n.-215A>G
NM_025077.3:c.52+165T>C (TOE1)	NP_079353.3:n.52+165T>C
XM_005270412.2:c.70+147T>C (TOE1)	XP_005270469.1:n.70+147T>C
XM_005270413.3:c.-160T>C (TOE1)	XP_005270470.1:n.-160T>C
XM_011540569.1:c.-233+165T>C (TOE1)	XP_011538871.1:n.-233+165T>C
XR_246230.2:n.329+165T>C (TOE1)
XR_426587.2:n.149+147T>C (TOE1)
XR_946532.1:n.149+147T>C (TOE1)
NM_001350650.1:c.-528A>G (MUTYH)	NP_001337579.1:n.-528A>G
NM_001350651.1:c.-464A>G (MUTYH)	NP_001337580.1:n.-464A>G
NR_146882.1:n.2A>G (MUTYH)
XM_005270412.4:c.70+147T>C (TOE1)	XP_005270469.1:n.70+147T>C
XM_005270413.5:c.-160T>C (TOE1)	XP_005270470.1:n.-160T>C
XM_011540569.3:c.-233+165T>C (TOE1)	XP_011538871.1:n.-233+165T>C
XM_024452837.1:c.-160T>C (TOE1)	XP_024308605.1:n.-160T>C
XR_001736951.2:n.239+165T>C (TOE1)
XR_002959287.1:n.554+165T>C (TOE1)
XR_246230.4:n.239+165T>C (TOE1)
XR_426587.4:n.149+147T>C (TOE1)
XR_946532.3:n.149+147T>C (TOE1)
NM_025077.4:c.52+165T>C (TOE1) MANE Select	NP_079353.3:n.52+165T>C