Canonical Allele Identifier: CA7231818

Gene: CHURC1 CHURC1-FNTB GPX2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64939726T>A , CM000676.2:g.64939726T>A	GRCh38
NC_000014.8:g.65406444T>A , CM000676.1:g.65406444T>A	GRCh37
NC_000014.7:g.64476197T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551093.6:c.247-3573T>A (CHURC1)	ENSP00000446610.2:n.247-3573T>A
ENST00000551947.6:c.176-3573T>A (CHURC1)	ENSP00000446697.2:n.176-3573T>A
ENST00000552941.6:c.175+15600T>A (CHURC1-FNTB)	ENSP00000449668.2:n.175+15600T>A
ENST00000389614.6:c.335A>T (GPX2) MANE Select	ENSP00000374265.5:p.Glu112Val
ENST00000389614.5:c.335A>T (GPX2)	ENSP00000374265.5:p.Glu112Val
ENST00000549987.1:c.246+13646T>A (CHURC1-FNTB)	ENSP00000447121.2:n.246+13646T>A
ENST00000551093.5:c.266-3573T>A (CHURC1)
ENST00000551823.1:c.320+7434T>A (CHURC1-FNTB)	ENSP00000449709.1:n.320+7434T>A
ENST00000551947.5:c.229-3573T>A (CHURC1)
ENST00000552941.5:c.186+15600T>A (CHURC1-FNTB)
ENST00000553522.1:c.*304A>T (GPX2)	ENSP00000450991.1:n.*304A>T
ENST00000553743.5:c.91+15600T>A (CHURC1-FNTB)	ENSP00000450692.1:n.91+15600T>A
ENST00000557049.1:c.167A>T (GPX2)	ENSP00000451721.1:p.Glu56Val
ENST00000557323.1:c.*303A>T (GPX2)	ENSP00000451844.1:n.*303A>T
ENST00000612794.1:c.332A>T (GPX2)	ENSP00000478082.1:p.Glu111Val
NM_001202558.1:c.6+15600T>A (CHURC1-FNTB)	NP_001189487.1:n.6+15600T>A
NM_001202559.1:c.327+13646T>A (CHURC1-FNTB)	NP_001189488.1:n.327+13646T>A
NM_002083.3:c.335A>T (GPX2)	NP_002074.2:p.Glu112Val
NR_046320.1:n.720A>T (GPX2)
NR_046321.1:n.719A>T (GPX2)
NR_138078.1:n.724A>T (GPX2)
NM_002083.4:c.335A>T (GPX2) MANE Select	NP_002074.2:p.Glu112Val
NM_001202558.2:c.6+15600T>A (CHURC1-FNTB)	NP_001189487.1:n.6+15600T>A
NR_046320.2:n.560A>T (GPX2)
NR_046321.2:n.559A>T (GPX2)
NR_138078.2:n.564A>T (GPX2)