Canonical Allele Identifier: CA6125241
Community Standard Title: NM_003793.4(CTSF):c.1321C>T (p.Arg441Cys)
Gene: CTSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66564558G>A , CM000673.2:g.66564558G>A GRCh38
NC_000011.9:g.66332029G>A , CM000673.1:g.66332029G>A GRCh37
NC_000011.8:g.66088605G>A NCBI36
NG_013304.2:g.22639G>A
NG_032973.1:g.9019C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003793.4:c.1321C>T MANE Select NP_003784.2:p.Arg441Cys
ENST00000310325.10:c.1321C>T MANE Select ENSP00000310832.5:p.Arg441Cys
NM_003793.3:c.1321C>T NP_003784.2:p.Arg441Cys
ENST00000310325.9:c.1321C>T ENSP00000310832.5:p.Arg441Cys
ENST00000524994.6:c.1318C>T ENSP00000433082.2:p.Arg440Cys
ENST00000525733.5:c.588C>T
ENST00000525733.6:c.*515C>T ENSP00000434936.2:n.*515C>T
ENST00000526010.2:c.1045C>T ENSP00000435822.2:p.Arg349Cys
ENST00000527141.5:n.842C>T
ENST00000527141.6:n.1220C>T
ENST00000530565.6:n.1860C>T
ENST00000533168.2:n.1502C>T
ENST00000676860.1:n.1272C>T
ENST00000676924.1:c.*341C>T ENSP00000503579.1:n.*341C>T
ENST00000677005.1:c.1321C>T ENSP00000503238.1:p.Arg441Cys
ENST00000677020.1:n.954C>T
ENST00000677186.1:n.1397C>T
ENST00000677298.1:n.1727C>T
ENST00000677365.1:n.1459C>T
ENST00000677526.1:c.*285C>T ENSP00000504693.1:n.*285C>T
ENST00000677587.1:c.1363C>T ENSP00000503791.1:p.Arg455Cys
ENST00000677678.1:n.730C>T
ENST00000677779.1:n.1166C>T
ENST00000677896.1:c.1312C>T ENSP00000504605.1:p.Arg438Cys
ENST00000677920.1:c.*573C>T ENSP00000503614.1:n.*573C>T
ENST00000678154.1:c.*983C>T ENSP00000502935.1:n.*983C>T
ENST00000678294.1:n.1437C>T
ENST00000678305.1:c.1249C>T ENSP00000504383.1:p.Arg417Cys
ENST00000678383.1:n.2073C>T
ENST00000678413.1:c.*515C>T ENSP00000503232.1:n.*515C>T
ENST00000678471.1:c.1318C>T ENSP00000502949.1:p.Arg440Cys
ENST00000678614.1:n.1417C>T
ENST00000678710.1:c.*32C>T ENSP00000504254.1:n.*32C>T
ENST00000678872.1:c.1321C>T ENSP00000503425.1:p.Arg441Cys
ENST00000678946.1:n.1346C>T
ENST00000678953.1:c.*1057C>T ENSP00000504169.1:n.*1057C>T
ENST00000679011.1:c.*285C>T ENSP00000503980.1:n.*285C>T
ENST00000679024.1:c.1321C>T ENSP00000503506.1:p.Arg441Cys
ENST00000679160.1:c.1246C>T ENSP00000503972.1:p.Arg416Cys
ENST00000679225.1:n.1261C>T
ENST00000679314.1:c.*415C>T ENSP00000503465.1:n.*415C>T
ENST00000679347.1:c.1321C>T ENSP00000503676.1:p.Leu441=
XM_011545328.1:c.1141C>T XP_011543630.1:p.Arg381Cys
XM_011545328.2:c.1141C>T XP_011543630.1:p.Arg381Cys