Canonical Allele Identifier: CA144618
Community Standard Title: NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu)
Gene: CTSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66563949G>A , CM000673.2:g.66563949G>A GRCh38
NC_000011.9:g.66331420G>A , CM000673.1:g.66331420G>A GRCh37
NC_000011.8:g.66087996G>A NCBI36
NG_013304.2:g.22030G>A
NG_032973.1:g.9628C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003793.4:c.1439C>T MANE Select NP_003784.2:p.Ser480Leu
ENST00000310325.10:c.1439C>T MANE Select ENSP00000310832.5:p.Ser480Leu
NM_003793.3:c.1439C>T NP_003784.2:p.Ser480Leu
ENST00000310325.9:c.1439C>T ENSP00000310832.5:p.Ser480Leu
ENST00000524994.6:c.1436C>T ENSP00000433082.2:p.Ser479Leu
ENST00000526010.2:c.1163C>T ENSP00000435822.2:p.Ser388Leu
ENST00000527141.5:n.1371C>T
ENST00000527141.6:n.1749C>T
ENST00000530565.6:n.2469C>T
ENST00000676860.1:n.1801C>T
ENST00000676924.1:c.*870C>T ENSP00000503579.1:n.*870C>T
ENST00000677005.1:c.*16C>T ENSP00000503238.1:n.*16C>T
ENST00000677020.1:n.1483C>T
ENST00000677298.1:n.2256C>T
ENST00000677365.1:n.1988C>T
ENST00000677526.1:c.*814C>T ENSP00000504693.1:n.*814C>T
ENST00000677587.1:c.1481C>T ENSP00000503791.1:p.Ser494Leu
ENST00000677678.1:n.1339C>T
ENST00000677779.1:n.1284C>T
ENST00000677896.1:c.1430C>T ENSP00000504605.1:p.Ser477Leu
ENST00000677920.1:c.*1102C>T ENSP00000503614.1:n.*1102C>T
ENST00000678154.1:c.*1101C>T ENSP00000502935.1:n.*1101C>T
ENST00000678294.1:n.1966C>T
ENST00000678305.1:c.1367C>T ENSP00000504383.1:p.Ser456Leu
ENST00000678383.1:n.2602C>T
ENST00000678471.1:c.1436C>T ENSP00000502949.1:p.Ser479Leu
ENST00000678614.1:n.1946C>T
ENST00000678710.1:c.*561C>T ENSP00000504254.1:n.*561C>T
ENST00000678872.1:c.1431C>T ENSP00000503425.1:p.Leu477=
ENST00000678946.1:n.1875C>T
ENST00000679011.1:c.*403C>T ENSP00000503980.1:n.*403C>T
ENST00000679024.1:c.*16C>T ENSP00000503506.1:n.*16C>T
ENST00000679160.1:c.1364C>T ENSP00000503972.1:p.Ser455Leu
ENST00000679314.1:c.*944C>T ENSP00000503465.1:n.*944C>T
ENST00000679347.1:c.*16C>T ENSP00000503676.1:n.*16C>T
XM_011545328.1:c.1259C>T XP_011543630.1:p.Ser420Leu
XM_011545328.2:c.1259C>T XP_011543630.1:p.Ser420Leu