Canonical Allele Identifier: CA21847446

Gene: TOE1 MUTYH

Linked Data

• dbSNP Id: rs536493308
• gnomAD v4: 1-45340536-C-T
• MyVariant Identifiers: chr1:g.45806208C>T (hg19) ; chr1:g.45340536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45340536C>T , CM000663.2:g.45340536C>T	GRCh38
NC_000001.10:g.45806208C>T , CM000663.1:g.45806208C>T	GRCh37
NC_000001.9:g.45578795C>T	NCBI36
NG_008189.1:g.4935G>A , LRG_220:g.4935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372090.6:c.52+232C>T (TOE1) MANE Select	ENSP00000361162.5:n.52+232C>T
ENST00000671898.1:c.541-6025G>A	ENSP00000499896.1:n.541-6025G>A
ENST00000672011.1:c.-282G>A (MUTYH)	ENSP00000500418.1:n.-282G>A
ENST00000372090.5:c.52+232C>T (TOE1)	ENSP00000361162.5:n.52+232C>T
ENST00000471337.5:n.130+232C>T (TOE1)
ENST00000477731.5:n.271+214C>T (TOE1)
ENST00000495703.5:n.316C>T (TOE1)
NM_025077.3:c.52+232C>T (TOE1)	NP_079353.3:n.52+232C>T
XM_005270412.2:c.70+214C>T (TOE1)	XP_005270469.1:n.70+214C>T
XM_005270413.3:c.-93C>T (TOE1)	XP_005270470.1:n.-93C>T
XM_011540569.1:c.-233+232C>T (TOE1)	XP_011538871.1:n.-233+232C>T
XR_246230.2:n.329+232C>T (TOE1)
XR_426587.2:n.149+214C>T (TOE1)
XR_946532.1:n.149+214C>T (TOE1)
XM_005270412.4:c.70+214C>T (TOE1)	XP_005270469.1:n.70+214C>T
XM_005270413.5:c.-93C>T (TOE1)	XP_005270470.1:n.-93C>T
XM_011540569.3:c.-233+232C>T (TOE1)	XP_011538871.1:n.-233+232C>T
XM_024452837.1:c.-93C>T (TOE1)	XP_024308605.1:n.-93C>T
XR_001736951.2:n.239+232C>T (TOE1)
XR_002959287.1:n.554+232C>T (TOE1)
XR_246230.4:n.239+232C>T (TOE1)
XR_426587.4:n.149+214C>T (TOE1)
XR_946532.3:n.149+214C>T (TOE1)
NM_025077.4:c.52+232C>T (TOE1) MANE Select	NP_079353.3:n.52+232C>T