Canonical Allele Identifier: CA497462030
Gene: CTNS HGNC NCBI
CTNS-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.3559784C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3656490C>G , CM000679.2:g.3656490C>G GRCh38
NC_000017.10:g.3559784C>G , CM000679.1:g.3559784C>G GRCh37
NC_000017.9:g.3506533C>G NCBI36
NG_012489.1:g.25023C>G
NG_012489.2:g.25023C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000046640.9:c.465C>G (CTNS) MANE Select ENSP00000046640.4:p.Val155=
ENST00000381870.8:c.465C>G (CTNS) ENSP00000371294.3:p.Val155=
ENST00000488623.6:c.-289C>G (CTNS) ENSP00000501016.1:n.-289C>G
ENST00000574776.6:c.24C>G (CTNS) ENSP00000461118.2:p.Val8=
ENST00000673669.1:c.24C>G (CTNS) ENSP00000501123.1:p.Val8=
ENST00000673965.1:c.465C>G (CTNS) ENSP00000500995.1:p.Val155=
ENST00000046640.7:c.465C>G (CTNS) ENSP00000046640.3:p.Val155=
ENST00000381870.7:c.465C>G (CTNS) ENSP00000371294.3:p.Val155=
ENST00000574218.1:c.24C>G (CTNS) ENSP00000458912.1:p.Val8=
ENST00000574776.5:c.24C>G (CTNS) ENSP00000461118.1:p.Val8=
ENST00000576979.1:c.465C>G (CTNS) ENSP00000458457.1:p.Val155=
NM_001031681.2:c.465C>G (CTNS) NP_001026851.2:p.Val155=
NM_004937.2:c.465C>G (CTNS) NP_004928.2:p.Val155=
XM_005256485.1:c.465C>G (CTNS) XP_005256542.1:p.Val155=
XM_006721463.1:c.465C>G (CTNS) XP_006721526.1:p.Val155=
XM_006721464.1:c.24C>G (CTNS) XP_006721527.1:p.Val8=
XM_011523691.1:c.465C>G (CTNS) XP_011521993.1:p.Val155=
XM_011523692.1:c.24C>G (CTNS) XP_011521994.1:p.Val8=
XR_934003.1:n.1058C>G (CTNS)
XR_934158.1:n.1143+366G>C (CTNS-AS1)
XR_934159.1:n.433+366G>C (CTNS-AS1)
XR_934160.1:n.438+366G>C (CTNS-AS1)
XR_934161.1:n.433+366G>C (CTNS-AS1)
XR_934162.1:n.438+366G>C (CTNS-AS1)
XR_934163.1:n.1034+366G>C (CTNS-AS1)
XM_005256485.3:c.465C>G (CTNS) XP_005256542.1:p.Val155=
XM_006721463.3:c.465C>G (CTNS) XP_006721526.1:p.Val155=
XM_006721464.2:c.24C>G (CTNS) XP_006721527.1:p.Val8=
XM_011523691.2:c.465C>G (CTNS) XP_011521993.1:p.Val155=
XM_011523692.2:c.24C>G (CTNS) XP_011521994.1:p.Val8=
XM_017024254.1:c.24C>G (CTNS) XP_016879743.1:p.Val8=
XM_017024255.1:c.24C>G (CTNS) XP_016879744.1:p.Val8=
XM_017024256.1:c.24C>G (CTNS) XP_016879745.1:p.Val8=
XM_017024257.1:c.24C>G (CTNS) XP_016879746.1:p.Val8=
XM_017024258.1:c.24C>G (CTNS) XP_016879747.1:p.Val8=
XR_934158.2:n.1160+366G>C (CTNS-AS1)
XR_934159.2:n.450+366G>C (CTNS-AS1)
XR_934160.2:n.455+366G>C (CTNS-AS1)
XR_934161.2:n.450+366G>C (CTNS-AS1)
XR_934162.3:n.455+366G>C (CTNS-AS1)
XR_934163.2:n.1051+366G>C (CTNS-AS1)
NM_001374492.1:c.465C>G (CTNS) NP_001361421.1:p.Val155=
NM_001374493.1:c.24C>G (CTNS) NP_001361422.1:p.Val8=
NM_001374494.1:c.24C>G (CTNS) NP_001361423.1:p.Val8=
NM_001374495.1:c.24C>G (CTNS) NP_001361424.1:p.Val8=
NM_001374496.1:c.24C>G (CTNS) NP_001361425.1:p.Val8=
NM_004937.3:c.465C>G (CTNS) MANE Select NP_004928.2:p.Val155=
NM_001031681.3:c.465C>G (CTNS) NP_001026851.2:p.Val155=