Canonical Allele Identifier: CA624850969
Gene: CTNS HGNC NCBI
CTNS-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1176154231
gnomAD v2: 17-3559924-G-A
gnomAD v3: 17-3656630-G-A
gnomAD v4: 17-3656630-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3656630G>A , CM000679.2:g.3656630G>A GRCh38
NC_000017.10:g.3559924G>A , CM000679.1:g.3559924G>A GRCh37
NC_000017.9:g.3506673G>A NCBI36
NG_012489.1:g.25163G>A
NG_012489.2:g.25163G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000046640.9:c.561+44G>A (CTNS) MANE Select ENSP00000046640.4:n.561+44G>A
ENST00000381870.8:c.561+44G>A (CTNS) ENSP00000371294.3:n.561+44G>A
ENST00000488623.6:c.-193+44G>A (CTNS) ENSP00000501016.1:n.-193+44G>A
ENST00000574776.6:c.120+44G>A (CTNS) ENSP00000461118.2:n.120+44G>A
ENST00000673669.1:c.120+44G>A (CTNS) ENSP00000501123.1:n.120+44G>A
ENST00000673965.1:c.561+44G>A (CTNS) ENSP00000500995.1:n.561+44G>A
ENST00000046640.7:c.561+44G>A (CTNS) ENSP00000046640.3:n.561+44G>A
ENST00000381870.7:c.561+44G>A (CTNS) ENSP00000371294.3:n.561+44G>A
NM_001031681.2:c.561+44G>A (CTNS) NP_001026851.2:n.561+44G>A
NM_004937.2:c.561+44G>A (CTNS) NP_004928.2:n.561+44G>A
XM_005256485.1:c.561+44G>A (CTNS) XP_005256542.1:n.561+44G>A
XM_006721463.1:c.561+44G>A (CTNS) XP_006721526.1:n.561+44G>A
XM_006721464.1:c.120+44G>A (CTNS) XP_006721527.1:n.120+44G>A
XM_011523691.1:c.561+44G>A (CTNS) XP_011521993.1:n.561+44G>A
XM_011523692.1:c.120+44G>A (CTNS) XP_011521994.1:n.120+44G>A
XR_934003.1:n.1154+44G>A (CTNS)
XR_934158.1:n.1143+226C>T (CTNS-AS1)
XR_934159.1:n.433+226C>T (CTNS-AS1)
XR_934160.1:n.438+226C>T (CTNS-AS1)
XR_934161.1:n.433+226C>T (CTNS-AS1)
XR_934162.1:n.438+226C>T (CTNS-AS1)
XR_934163.1:n.1034+226C>T (CTNS-AS1)
XM_005256485.3:c.561+44G>A (CTNS) XP_005256542.1:n.561+44G>A
XM_006721463.3:c.561+44G>A (CTNS) XP_006721526.1:n.561+44G>A
XM_006721464.2:c.120+44G>A (CTNS) XP_006721527.1:n.120+44G>A
XM_011523691.2:c.561+44G>A (CTNS) XP_011521993.1:n.561+44G>A
XM_011523692.2:c.120+44G>A (CTNS) XP_011521994.1:n.120+44G>A
XM_017024254.1:c.120+44G>A (CTNS) XP_016879743.1:n.120+44G>A
XM_017024255.1:c.120+44G>A (CTNS) XP_016879744.1:n.120+44G>A
XM_017024256.1:c.120+44G>A (CTNS) XP_016879745.1:n.120+44G>A
XM_017024257.1:c.120+44G>A (CTNS) XP_016879746.1:n.120+44G>A
XM_017024258.1:c.120+44G>A (CTNS) XP_016879747.1:n.120+44G>A
XR_934158.2:n.1160+226C>T (CTNS-AS1)
XR_934159.2:n.450+226C>T (CTNS-AS1)
XR_934160.2:n.455+226C>T (CTNS-AS1)
XR_934161.2:n.450+226C>T (CTNS-AS1)
XR_934162.3:n.455+226C>T (CTNS-AS1)
XR_934163.2:n.1051+226C>T (CTNS-AS1)
NM_001374492.1:c.561+44G>A (CTNS) NP_001361421.1:n.561+44G>A
NM_001374493.1:c.120+44G>A (CTNS) NP_001361422.1:n.120+44G>A
NM_001374494.1:c.120+44G>A (CTNS) NP_001361423.1:n.120+44G>A
NM_001374495.1:c.120+44G>A (CTNS) NP_001361424.1:n.120+44G>A
NM_001374496.1:c.120+44G>A (CTNS) NP_001361425.1:n.120+44G>A
NM_004937.3:c.561+44G>A (CTNS) MANE Select NP_004928.2:n.561+44G>A
NM_001031681.3:c.561+44G>A (CTNS) NP_001026851.2:n.561+44G>A