Canonical Allele Identifier: CA21847405

Gene: TOE1 MUTYH

Linked Data

• dbSNP Id: rs1047262645
• gnomAD v2: 1-45806140-C-T
• gnomAD v3: 1-45340468-C-T
• gnomAD v4: 1-45340468-C-T
• MyVariant Identifiers: chr1:g.45806140C>T (hg19) ; chr1:g.45340468C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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