Canonical Allele Identifier: CA6125499
Community Standard Title: NM_003793.4(CTSF):c.614G>T (p.Arg205Leu)
Gene: CTSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66566398C>A , CM000673.2:g.66566398C>A GRCh38
NC_000011.9:g.66333869C>A , CM000673.1:g.66333869C>A GRCh37
NC_000011.8:g.66090445C>A NCBI36
NG_032973.1:g.7179G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003793.4:c.614G>T MANE Select NP_003784.2:p.Arg205Leu
ENST00000310325.10:c.614G>T MANE Select ENSP00000310832.5:p.Arg205Leu
NM_003793.3:c.614G>T NP_003784.2:p.Arg205Leu
ENST00000310325.9:c.614G>T ENSP00000310832.5:p.Arg205Leu
ENST00000524994.5:c.156G>T
ENST00000524994.6:c.611G>T ENSP00000433082.2:p.Arg204Leu
ENST00000525733.6:c.614G>T ENSP00000434936.2:p.Arg205Leu
ENST00000526010.1:c.338G>T ENSP00000435822.1:p.Arg113Leu
ENST00000526010.2:c.338G>T ENSP00000435822.2:p.Arg113Leu
ENST00000527141.5:n.135G>T
ENST00000527141.6:n.513G>T
ENST00000529561.5:n.452G>T
ENST00000529561.6:n.452G>T
ENST00000530565.6:n.143G>T
ENST00000533168.1:n.469G>T
ENST00000533168.2:n.702G>T
ENST00000676860.1:n.565G>T
ENST00000676924.1:c.614G>T ENSP00000503579.1:p.Arg205Leu
ENST00000677005.1:c.614G>T ENSP00000503238.1:p.Arg205Leu
ENST00000677186.1:n.734G>T
ENST00000677298.1:n.1020G>T
ENST00000677365.1:n.673G>T
ENST00000677526.1:c.614G>T ENSP00000504693.1:p.Arg205Leu
ENST00000677587.1:c.656G>T ENSP00000503791.1:p.Arg219Leu
ENST00000677779.1:n.459G>T
ENST00000677896.1:c.605G>T ENSP00000504605.1:p.Arg202Leu
ENST00000677920.1:c.614G>T ENSP00000503614.1:p.Arg205Leu
ENST00000678154.1:c.*276G>T ENSP00000502935.1:n.*276G>T
ENST00000678294.1:n.730G>T
ENST00000678305.1:c.542G>T ENSP00000504383.1:p.Arg181Leu
ENST00000678383.1:n.623G>T
ENST00000678413.1:c.614G>T ENSP00000503232.1:p.Arg205Leu
ENST00000678471.1:c.614G>T ENSP00000502949.1:p.Arg205Leu
ENST00000678710.1:c.614G>T ENSP00000504254.1:p.Arg205Leu
ENST00000678872.1:c.614G>T ENSP00000503425.1:p.Arg205Leu
ENST00000678946.1:n.546G>T
ENST00000678953.1:c.*350G>T ENSP00000504169.1:n.*350G>T
ENST00000679011.1:c.614G>T ENSP00000503980.1:p.Arg205Leu
ENST00000679024.1:c.614G>T ENSP00000503506.1:p.Arg205Leu
ENST00000679160.1:c.539G>T ENSP00000503972.1:p.Arg180Leu
ENST00000679225.1:n.554G>T
ENST00000679314.1:c.614G>T ENSP00000503465.1:p.Arg205Leu
ENST00000679347.1:c.614G>T ENSP00000503676.1:p.Arg205Leu
XM_011545328.1:c.434G>T XP_011543630.1:p.Arg145Leu
XM_011545328.2:c.434G>T XP_011543630.1:p.Arg145Leu