Canonical Allele Identifier: CA262691314

Gene: CHURC1 CHURC1-FNTB GPX2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64942653G>T , CM000676.2:g.64942653G>T	GRCh38
NC_000014.8:g.65409371G>T , CM000676.1:g.65409371G>T	GRCh37
NC_000014.7:g.64479124G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551093.6:c.247-646G>T (CHURC1)	ENSP00000446610.2:n.247-646G>T
ENST00000551947.6:c.176-646G>T (CHURC1)	ENSP00000446697.2:n.176-646G>T
ENST00000552941.6:c.175+18527G>T (CHURC1-FNTB)	ENSP00000449668.2:n.175+18527G>T
ENST00000389614.6:c.74C>A (GPX2) MANE Select	ENSP00000374265.5:p.Thr25Lys
ENST00000389614.5:c.74C>A (GPX2)	ENSP00000374265.5:p.Thr25Lys
ENST00000549987.1:c.246+16573G>T (CHURC1-FNTB)	ENSP00000447121.2:n.246+16573G>T
ENST00000551093.5:c.266-646G>T (CHURC1)
ENST00000551823.1:c.320+10361G>T (CHURC1-FNTB)	ENSP00000449709.1:n.320+10361G>T
ENST00000551947.5:c.229-646G>T (CHURC1)
ENST00000552941.5:c.186+18527G>T (CHURC1-FNTB)
ENST00000553522.1:c.74C>A (GPX2)	ENSP00000450991.1:p.Thr25Lys
ENST00000553743.5:c.91+18527G>T (CHURC1-FNTB)	ENSP00000450692.1:n.91+18527G>T
ENST00000557049.1:c.54+14C>A (GPX2)	ENSP00000451721.1:n.54+14C>A
ENST00000557323.1:c.74C>A (GPX2)	ENSP00000451844.1:p.Thr25Lys
ENST00000612794.1:c.74C>A (GPX2)	ENSP00000478082.1:p.Thr25Lys
NM_001202558.1:c.6+18527G>T (CHURC1-FNTB)	NP_001189487.1:n.6+18527G>T
NM_001202559.1:c.327+16573G>T (CHURC1-FNTB)	NP_001189488.1:n.327+16573G>T
NM_002083.3:c.74C>A (GPX2)	NP_002074.2:p.Thr25Lys
NR_046320.1:n.253C>A (GPX2)
NR_046321.1:n.253C>A (GPX2)
NR_138078.1:n.253C>A (GPX2)
NM_002083.4:c.74C>A (GPX2) MANE Select	NP_002074.2:p.Thr25Lys
NM_001202558.2:c.6+18527G>T (CHURC1-FNTB)	NP_001189487.1:n.6+18527G>T
NR_046320.2:n.93C>A (GPX2)
NR_046321.2:n.93C>A (GPX2)
NR_138078.2:n.93C>A (GPX2)