Canonical Allele Identifier: CA381456719
Community Standard Title: NM_003793.4(CTSF):c.1247T>C (p.Ile416Thr)
Gene: CTSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66564632A>G , CM000673.2:g.66564632A>G GRCh38
NC_000011.9:g.66332103A>G , CM000673.1:g.66332103A>G GRCh37
NC_000011.8:g.66088679A>G NCBI36
NG_013304.2:g.22713A>G
NG_032973.1:g.8945T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003793.4:c.1247T>C MANE Select NP_003784.2:p.Ile416Thr
ENST00000310325.10:c.1247T>C MANE Select ENSP00000310832.5:p.Ile416Thr
NM_003793.3:c.1247T>C NP_003784.2:p.Ile416Thr
ENST00000310325.9:c.1247T>C ENSP00000310832.5:p.Ile416Thr
ENST00000524994.5:c.789T>C
ENST00000524994.6:c.1244T>C ENSP00000433082.2:p.Ile415Thr
ENST00000525733.5:c.514T>C
ENST00000525733.6:c.*441T>C ENSP00000434936.2:n.*441T>C
ENST00000526010.2:c.971T>C ENSP00000435822.2:p.Ile324Thr
ENST00000527141.5:n.768T>C
ENST00000527141.6:n.1146T>C
ENST00000530565.6:n.1786T>C
ENST00000533168.2:n.1428T>C
ENST00000676860.1:n.1198T>C
ENST00000676924.1:c.*267T>C ENSP00000503579.1:n.*267T>C
ENST00000677005.1:c.1247T>C ENSP00000503238.1:p.Ile416Thr
ENST00000677020.1:n.880T>C
ENST00000677186.1:n.1351-28T>C
ENST00000677298.1:n.1653T>C
ENST00000677365.1:n.1385T>C
ENST00000677526.1:c.*211T>C ENSP00000504693.1:n.*211T>C
ENST00000677587.1:c.1289T>C ENSP00000503791.1:p.Ile430Thr
ENST00000677678.1:n.656T>C
ENST00000677779.1:n.1092T>C
ENST00000677896.1:c.1238T>C ENSP00000504605.1:p.Ile413Thr
ENST00000677920.1:c.*499T>C ENSP00000503614.1:n.*499T>C
ENST00000678154.1:c.*909T>C ENSP00000502935.1:n.*909T>C
ENST00000678294.1:n.1363T>C
ENST00000678305.1:c.1175T>C ENSP00000504383.1:p.Ile392Thr
ENST00000678383.1:n.1999T>C
ENST00000678413.1:c.*441T>C ENSP00000503232.1:n.*441T>C
ENST00000678471.1:c.1244T>C ENSP00000502949.1:p.Ile415Thr
ENST00000678614.1:n.1343T>C
ENST00000678710.1:c.1182T>C ENSP00000504254.1:p.Asp394=
ENST00000678872.1:c.1247T>C ENSP00000503425.1:p.Ile416Thr
ENST00000678946.1:n.1272T>C
ENST00000678953.1:c.*983T>C ENSP00000504169.1:n.*983T>C
ENST00000679011.1:c.*211T>C ENSP00000503980.1:n.*211T>C
ENST00000679024.1:c.1247T>C ENSP00000503506.1:p.Ile416Thr
ENST00000679160.1:c.1172T>C ENSP00000503972.1:p.Ile391Thr
ENST00000679225.1:n.1187T>C
ENST00000679314.1:c.*341T>C ENSP00000503465.1:n.*341T>C
ENST00000679347.1:c.1247T>C ENSP00000503676.1:p.Ile416Thr
XM_011545328.1:c.1067T>C XP_011543630.1:p.Ile356Thr
XM_011545328.2:c.1067T>C XP_011543630.1:p.Ile356Thr