Canonical Allele Identifier: CA7232054
Gene: CHURC1-FNTB HGNC NCBI
RAB15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64950412G>A , CM000676.2:g.64950412G>A GRCh38
NC_000014.8:g.65417130G>A , CM000676.1:g.65417130G>A GRCh37
NC_000014.7:g.64486883G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000552941.6:c.175+26286G>A (CHURC1-FNTB) ENSP00000449668.2:n.175+26286G>A
ENST00000426039.8:c.402C>T (RAB15) ENSP00000433485.3:p.Tyr134=
ENST00000533601.7:c.327C>T (RAB15) MANE Select ENSP00000434103.3:p.Tyr109=
ENST00000554593.2:c.189C>T (RAB15) ENSP00000452195.2:p.Tyr63=
ENST00000642625.1:c.*412C>T (RAB15) ENSP00000494630.1:n.*412C>T
ENST00000642782.1:n.1542C>T (RAB15)
ENST00000646728.1:c.320C>T (RAB15) ENSP00000496006.1:p.Thr107Met
ENST00000646754.1:c.429C>T (RAB15) ENSP00000494998.1:p.Tyr143=
ENST00000267512.9:c.458C>T (RAB15) ENSP00000267512.5:p.Thr153Met
ENST00000426039.7:c.189C>T (RAB15) ENSP00000433485.2:p.Tyr63=
ENST00000533601.6:c.327C>T (RAB15) ENSP00000434103.2:p.Tyr109=
ENST00000549987.1:c.246+24332G>A (CHURC1-FNTB) ENSP00000447121.2:n.246+24332G>A
ENST00000551823.1:c.320+18120G>A (CHURC1-FNTB) ENSP00000449709.1:n.320+18120G>A
ENST00000552941.5:c.186+26286G>A (CHURC1-FNTB)
ENST00000553743.5:c.91+26286G>A (CHURC1-FNTB) ENSP00000450692.1:n.91+26286G>A
ENST00000554593.1:c.189C>T (RAB15) ENSP00000452195.1:p.Tyr63=
ENST00000555256.1:n.416C>T (RAB15)
ENST00000585059.5:c.785C>T (RAB15)
NM_001202558.1:c.6+26286G>A (CHURC1-FNTB) NP_001189487.1:n.6+26286G>A
NM_001202559.1:c.327+24332G>A (CHURC1-FNTB) NP_001189488.1:n.327+24332G>A
NM_001308154.1:c.327C>T (RAB15) NP_001295083.1:p.Tyr109=
NM_198686.2:c.458C>T (RAB15) NP_941959.1:p.Thr153Met
XM_011536741.1:c.243C>T (RAB15) XP_011535043.1:p.Tyr81=
NM_001330182.1:c.189C>T (RAB15) NP_001317111.1:p.Tyr63=
XM_024449577.1:c.320C>T (RAB15) XP_024305345.1:p.Thr107Met
NM_001202558.2:c.6+26286G>A (CHURC1-FNTB) NP_001189487.1:n.6+26286G>A
NM_001308154.2:c.327C>T (RAB15) MANE Select NP_001295083.1:p.Tyr109=
NM_001330182.2:c.189C>T (RAB15) NP_001317111.1:p.Tyr63=
NM_198686.3:c.458C>T (RAB15) NP_941959.1:p.Thr153Met