Canonical Allele Identifier: CA390037537
Gene: CHURC1-FNTB HGNC NCBI
RAB15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64972058C>T , CM000676.2:g.64972058C>T GRCh38
NC_000014.8:g.65438776C>T , CM000676.1:g.65438776C>T GRCh37
NC_000014.7:g.64508529C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000552941.6:c.176-32191C>T (CHURC1-FNTB) ENSP00000449668.2:n.176-32191C>T
ENST00000426039.8:c.94G>A (RAB15) ENSP00000433485.3:p.Val32Met
ENST00000533601.7:c.19G>A (RAB15) MANE Select ENSP00000434103.3:p.Val7Met
ENST00000554593.2:c.-15+652G>A (RAB15) ENSP00000452195.2:n.-15+652G>A
ENST00000642625.1:c.19G>A (RAB15) ENSP00000494630.1:p.Val7Met
ENST00000642782.1:n.575G>A (RAB15)
ENST00000646728.1:c.-15+652G>A (RAB15) ENSP00000496006.1:n.-15+652G>A
ENST00000646754.1:c.121G>A (RAB15) ENSP00000494998.1:p.Val41Met
ENST00000267512.9:c.19G>A (RAB15) ENSP00000267512.5:p.Val7Met
ENST00000533601.6:c.19G>A (RAB15) ENSP00000434103.2:p.Val7Met
ENST00000549987.1:c.247-32191C>T (CHURC1-FNTB) ENSP00000447121.2:n.247-32191C>T
ENST00000551823.1:c.321-32191C>T (CHURC1-FNTB) ENSP00000449709.1:n.321-32191C>T
ENST00000552941.5:c.187-32191C>T (CHURC1-FNTB)
ENST00000553743.5:c.92-32191C>T (CHURC1-FNTB) ENSP00000450692.1:n.92-32191C>T
ENST00000554593.1:c.-15+652G>A (RAB15) ENSP00000452195.1:n.-15+652G>A
NM_001202558.1:c.7-32191C>T (CHURC1-FNTB) NP_001189487.1:n.7-32191C>T
NM_001202559.1:c.328-32191C>T (CHURC1-FNTB) NP_001189488.1:n.328-32191C>T
NM_001308154.1:c.19G>A (RAB15) NP_001295083.1:p.Val7Met
NM_198686.2:c.19G>A (RAB15) NP_941959.1:p.Val7Met
NM_001330182.1:c.-340G>A (RAB15) NP_001317111.1:n.-340G>A
NM_001202558.2:c.7-32191C>T (CHURC1-FNTB) NP_001189487.1:n.7-32191C>T
NM_001308154.2:c.19G>A (RAB15) MANE Select NP_001295083.1:p.Val7Met
NM_001330182.2:c.-340G>A (RAB15) NP_001317111.1:n.-340G>A
NM_198686.3:c.19G>A (RAB15) NP_941959.1:p.Val7Met