Canonical Allele Identifier: CA6125707
Community Standard Title: NM_003793.4(CTSF):c.130C>T (p.Arg44Cys)
Gene: CTSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66568357G>A , CM000673.2:g.66568357G>A GRCh38
NC_000011.9:g.66335828G>A , CM000673.1:g.66335828G>A GRCh37
NC_000011.8:g.66092404G>A NCBI36
NG_032973.1:g.5220C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003793.4:c.130C>T MANE Select NP_003784.2:p.Arg44Cys
ENST00000310325.10:c.130C>T MANE Select ENSP00000310832.5:p.Arg44Cys
NM_003793.3:c.130C>T NP_003784.2:p.Arg44Cys
ENST00000310325.9:c.130C>T ENSP00000310832.5:p.Arg44Cys
ENST00000524994.6:c.130C>T ENSP00000433082.2:p.Arg44Cys
ENST00000525733.6:c.130C>T ENSP00000434936.2:p.Arg44Cys
ENST00000526010.1:c.-63-275C>T ENSP00000435822.1:n.-63-275C>T
ENST00000526010.2:c.-63-275C>T ENSP00000435822.2:n.-63-275C>T
ENST00000527141.6:n.113-275C>T
ENST00000676924.1:c.130C>T ENSP00000503579.1:p.Arg44Cys
ENST00000677005.1:c.130C>T ENSP00000503238.1:p.Arg44Cys
ENST00000677186.1:n.250C>T
ENST00000677298.1:n.215C>T
ENST00000677365.1:n.189C>T
ENST00000677526.1:c.130C>T ENSP00000504693.1:p.Arg44Cys
ENST00000677587.1:c.130C>T ENSP00000503791.1:p.Arg44Cys
ENST00000677896.1:c.130C>T ENSP00000504605.1:p.Arg44Cys
ENST00000677920.1:c.130C>T ENSP00000503614.1:p.Arg44Cys
ENST00000678154.1:c.130C>T ENSP00000502935.1:p.Arg44Cys
ENST00000678294.1:n.246C>T
ENST00000678305.1:c.130C>T ENSP00000504383.1:p.Arg44Cys
ENST00000678383.1:n.139C>T
ENST00000678413.1:c.130C>T ENSP00000503232.1:p.Arg44Cys
ENST00000678471.1:c.130C>T ENSP00000502949.1:p.Arg44Cys
ENST00000678710.1:c.130C>T ENSP00000504254.1:p.Arg44Cys
ENST00000678872.1:c.130C>T ENSP00000503425.1:p.Arg44Cys
ENST00000678946.1:n.62C>T
ENST00000678953.1:c.130C>T ENSP00000504169.1:p.Arg44Cys
ENST00000679011.1:c.130C>T ENSP00000503980.1:p.Arg44Cys
ENST00000679024.1:c.130C>T ENSP00000503506.1:p.Arg44Cys
ENST00000679160.1:c.130C>T ENSP00000503972.1:p.Arg44Cys
ENST00000679314.1:c.130C>T ENSP00000503465.1:p.Arg44Cys
ENST00000679347.1:c.130C>T ENSP00000503676.1:p.Arg44Cys