Canonical Allele Identifier: CA2142880487

Gene: CHURC1 CHURC1-FNTB GPX2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64940282C>A , CM000676.2:g.64940282C>A	GRCh38
NC_000014.8:g.65407000C>A , CM000676.1:g.65407000C>A	GRCh37
NC_000014.7:g.64476753C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551093.6:c.247-3017C>A (CHURC1)	ENSP00000446610.2:n.247-3017C>A
ENST00000551947.6:c.176-3017C>A (CHURC1)	ENSP00000446697.2:n.176-3017C>A
ENST00000552941.6:c.175+16156C>A (CHURC1-FNTB)	ENSP00000449668.2:n.175+16156C>A
ENST00000389614.6:c.223-444G>T (GPX2) MANE Select	ENSP00000374265.5:n.223-444G>T
ENST00000389614.5:c.223-444G>T (GPX2)	ENSP00000374265.5:n.223-444G>T
ENST00000549987.1:c.246+14202C>A (CHURC1-FNTB)	ENSP00000447121.2:n.246+14202C>A
ENST00000551093.5:c.266-3017C>A (CHURC1)
ENST00000551823.1:c.320+7990C>A (CHURC1-FNTB)	ENSP00000449709.1:n.320+7990C>A
ENST00000551947.5:c.229-3017C>A (CHURC1)
ENST00000552941.5:c.186+16156C>A (CHURC1-FNTB)
ENST00000553522.1:c.223-84G>T (GPX2)	ENSP00000450991.1:n.223-84G>T
ENST00000553743.5:c.91+16156C>A (CHURC1-FNTB)	ENSP00000450692.1:n.91+16156C>A
ENST00000557049.1:c.55-444G>T (GPX2)	ENSP00000451721.1:n.55-444G>T
ENST00000557323.1:c.*191-444G>T (GPX2)	ENSP00000451844.1:n.*191-444G>T
ENST00000612794.1:c.220-444G>T (GPX2)	ENSP00000478082.1:n.220-444G>T
NM_001202558.1:c.6+16156C>A (CHURC1-FNTB)	NP_001189487.1:n.6+16156C>A
NM_001202559.1:c.327+14202C>A (CHURC1-FNTB)	NP_001189488.1:n.327+14202C>A
NM_002083.3:c.223-444G>T (GPX2)	NP_002074.2:n.223-444G>T
NR_046320.1:n.402-84G>T (GPX2)
NR_046321.1:n.607-444G>T (GPX2)
NR_138078.1:n.612-444G>T (GPX2)
NM_002083.4:c.223-444G>T (GPX2) MANE Select	NP_002074.2:n.223-444G>T
NM_001202558.2:c.6+16156C>A (CHURC1-FNTB)	NP_001189487.1:n.6+16156C>A
NR_046320.2:n.242-84G>T (GPX2)
NR_046321.2:n.447-444G>T (GPX2)
NR_138078.2:n.452-444G>T (GPX2)