Canonical Allele Identifier: CA7231677
Community Standard Title: NM_001386928.1(CHURC1):c.170A>G (p.Tyr57Cys)
Gene: CHURC1 HGNC NCBI
CHURC1-FNTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64924121A>G , CM000676.2:g.64924121A>G GRCh38
NC_000014.8:g.65390839A>G , CM000676.1:g.65390839A>G GRCh37
NC_000014.7:g.64460592A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001386928.1:c.170A>G (CHURC1) MANE Select NP_001373857.1:p.Tyr57Cys
ENST00000549115.7:c.170A>G (CHURC1) MANE Select ENSP00000448050.2:p.Tyr57Cys
NM_001202558.1:c.1A>G (CHURC1-FNTB) NP_001189487.1:p.Met1Val
NM_001202558.2:c.1A>G (CHURC1-FNTB) NP_001189487.1:p.Met1Val
NM_001202559.1:c.251A>G (CHURC1-FNTB) NP_001189488.1:p.Tyr84Cys
NM_001204063.1:c.251A>G (CHURC1) NP_001190992.1:p.Tyr84Cys
NM_001204064.1:c.251A>G (CHURC1) NP_001190993.1:p.Tyr84Cys
NM_001204064.2:c.170A>G (CHURC1) NP_001190993.2:p.Tyr57Cys
NM_145165.3:c.251A>G (CHURC1) NP_660148.3:p.Tyr84Cys
NM_145165.4:c.170A>G (CHURC1) NP_660148.4:p.Tyr57Cys
ENST00000359118.6:c.170A>G (CHURC1) ENSP00000352026.3:p.Tyr57Cys
ENST00000547625.1:c.112A>G (CHURC1)
ENST00000548752.6:c.251A>G (CHURC1) ENSP00000450165.2:p.Tyr84Cys
ENST00000548752.7:c.170A>G (CHURC1) ENSP00000450165.3:p.Tyr57Cys
ENST00000549115.5:c.251A>G (CHURC1) ENSP00000448050.1:p.Tyr84Cys
ENST00000549115.6:c.251A>G (CHURC1) ENSP00000448050.1:p.Tyr84Cys
ENST00000549987.1:c.170A>G (CHURC1-FNTB) ENSP00000447121.2:p.Tyr57Cys
ENST00000551093.5:c.189A>G (CHURC1)
ENST00000551093.6:c.170A>G (CHURC1) ENSP00000446610.2:p.Tyr57Cys
ENST00000551823.1:c.86A>G (CHURC1-FNTB) ENSP00000449709.1:p.Tyr29Cys
ENST00000551947.5:c.223A>G (CHURC1)
ENST00000551947.6:c.170A>G (CHURC1) ENSP00000446697.2:p.Tyr57Cys
ENST00000552002.6:c.170A>G (CHURC1) ENSP00000450144.2:p.Tyr57Cys
ENST00000552002.7:c.170A>G (CHURC1) ENSP00000450144.2:p.Tyr57Cys
ENST00000552941.5:c.181A>G (CHURC1-FNTB)
ENST00000552941.6:c.170A>G (CHURC1-FNTB) ENSP00000449668.2:p.Tyr57Cys
ENST00000553743.5:c.86A>G (CHURC1-FNTB) ENSP00000450692.1:p.Tyr29Cys
ENST00000556089.1:n.208A>G (CHURC1)
ENST00000607599.5:c.251A>G (CHURC1) ENSP00000475473.1:p.Tyr84Cys
ENST00000607599.6:c.170A>G (CHURC1) ENSP00000475473.2:p.Tyr57Cys