Canonical Allele Identifier: CA381458466
Community Standard Title: NM_003793.4(CTSF):c.1045+1G>T
Gene: CTSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66565670C>A , CM000673.2:g.66565670C>A GRCh38
NC_000011.9:g.66333141C>A , CM000673.1:g.66333141C>A GRCh37
NC_000011.8:g.66089717C>A NCBI36
NG_032973.1:g.7907G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003793.4:c.1045+1G>T MANE Select NP_003784.2:n.1045+1G>T
ENST00000310325.10:c.1045+1G>T MANE Select ENSP00000310832.5:n.1045+1G>T
NM_003793.3:c.1045+1G>T NP_003784.2:n.1045+1G>T
ENST00000310325.9:c.1045+1G>T ENSP00000310832.5:n.1045+1G>T
ENST00000524994.5:c.587+1G>T
ENST00000524994.6:c.1042+1G>T ENSP00000433082.2:n.1042+1G>T
ENST00000525733.5:c.312+1G>T
ENST00000525733.6:c.*239+1G>T ENSP00000434936.2:n.*239+1G>T
ENST00000526010.2:c.769+1G>T ENSP00000435822.2:n.769+1G>T
ENST00000527141.5:n.566+1G>T
ENST00000527141.6:n.944+1G>T
ENST00000529199.1:n.384+1G>T
ENST00000530565.5:n.370+1G>T
ENST00000530565.6:n.748G>T
ENST00000533168.2:n.1133+1G>T
ENST00000676860.1:n.996+1G>T
ENST00000676924.1:c.*65+1G>T ENSP00000503579.1:n.*65+1G>T
ENST00000677005.1:c.1045+1G>T ENSP00000503238.1:n.1045+1G>T
ENST00000677186.1:n.1165+1G>T
ENST00000677298.1:n.1451+1G>T
ENST00000677365.1:n.1183+1G>T
ENST00000677526.1:c.*9+1G>T ENSP00000504693.1:n.*9+1G>T
ENST00000677587.1:c.1087+1G>T ENSP00000503791.1:n.1087+1G>T
ENST00000677779.1:n.890+1G>T
ENST00000677896.1:c.1036+1G>T ENSP00000504605.1:n.1036+1G>T
ENST00000677920.1:c.*297+1G>T ENSP00000503614.1:n.*297+1G>T
ENST00000678154.1:c.*707+1G>T ENSP00000502935.1:n.*707+1G>T
ENST00000678294.1:n.1161+1G>T
ENST00000678305.1:c.973+1G>T ENSP00000504383.1:n.973+1G>T
ENST00000678383.1:n.1134G>T
ENST00000678413.1:c.*239+1G>T ENSP00000503232.1:n.*239+1G>T
ENST00000678471.1:c.1045+1G>T ENSP00000502949.1:n.1045+1G>T
ENST00000678614.1:n.305G>T
ENST00000678710.1:c.1045+1G>T ENSP00000504254.1:n.1045+1G>T
ENST00000678872.1:c.1045+1G>T ENSP00000503425.1:n.1045+1G>T
ENST00000678946.1:n.977+1G>T
ENST00000678953.1:c.*781+1G>T ENSP00000504169.1:n.*781+1G>T
ENST00000679011.1:c.*9+1G>T ENSP00000503980.1:n.*9+1G>T
ENST00000679024.1:c.1045+1G>T ENSP00000503506.1:n.1045+1G>T
ENST00000679160.1:c.970+1G>T ENSP00000503972.1:n.970+1G>T
ENST00000679225.1:n.985+1G>T
ENST00000679314.1:c.1045+1G>T ENSP00000503465.1:n.1045+1G>T
ENST00000679347.1:c.1045+1G>T ENSP00000503676.1:n.1045+1G>T
XM_011545328.1:c.865+1G>T XP_011543630.1:n.865+1G>T
XM_011545328.2:c.865+1G>T XP_011543630.1:n.865+1G>T