Canonical Allele Identifier: CA8291773

Gene: CTNS CTNS-AS1

Linked Data

• dbSNP Id: rs548772179
• ExAC: 17:3559875 A / G
• gnomAD v2: 17-3559875-A-G
• gnomAD v4: 17-3656581-A-G
• MyVariant Identifiers: chr17:g.3559875A>G (hg19) ; chr17:g.3656581A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3656581A>G , CM000679.2:g.3656581A>G	GRCh38
NC_000017.10:g.3559875A>G , CM000679.1:g.3559875A>G	GRCh37
NC_000017.9:g.3506624A>G	NCBI36
NG_012489.1:g.25114A>G
NG_012489.2:g.25114A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.556A>G (CTNS) MANE Select	ENSP00000046640.4:p.Ile186Val
ENST00000381870.8:c.556A>G (CTNS)	ENSP00000371294.3:p.Ile186Val
ENST00000488623.6:c.-198A>G (CTNS)	ENSP00000501016.1:n.-198A>G
ENST00000574776.6:c.115A>G (CTNS)	ENSP00000461118.2:p.Ile39Val
ENST00000673669.1:c.115A>G (CTNS)	ENSP00000501123.1:p.Ile39Val
ENST00000673965.1:c.556A>G (CTNS)	ENSP00000500995.1:p.Ile186Val
ENST00000046640.7:c.556A>G (CTNS)	ENSP00000046640.3:p.Ile186Val
ENST00000381870.7:c.556A>G (CTNS)	ENSP00000371294.3:p.Ile186Val
NM_001031681.2:c.556A>G (CTNS)	NP_001026851.2:p.Ile186Val
NM_004937.2:c.556A>G (CTNS)	NP_004928.2:p.Ile186Val
XM_005256485.1:c.556A>G (CTNS)	XP_005256542.1:p.Ile186Val
XM_006721463.1:c.556A>G (CTNS)	XP_006721526.1:p.Ile186Val
XM_006721464.1:c.115A>G (CTNS)	XP_006721527.1:p.Ile39Val
XM_011523691.1:c.556A>G (CTNS)	XP_011521993.1:p.Ile186Val
XM_011523692.1:c.115A>G (CTNS)	XP_011521994.1:p.Ile39Val
XR_934003.1:n.1149A>G (CTNS)
XR_934158.1:n.1143+275T>C (CTNS-AS1)
XR_934159.1:n.433+275T>C (CTNS-AS1)
XR_934160.1:n.438+275T>C (CTNS-AS1)
XR_934161.1:n.433+275T>C (CTNS-AS1)
XR_934162.1:n.438+275T>C (CTNS-AS1)
XR_934163.1:n.1034+275T>C (CTNS-AS1)
XM_005256485.3:c.556A>G (CTNS)	XP_005256542.1:p.Ile186Val
XM_006721463.3:c.556A>G (CTNS)	XP_006721526.1:p.Ile186Val
XM_006721464.2:c.115A>G (CTNS)	XP_006721527.1:p.Ile39Val
XM_011523691.2:c.556A>G (CTNS)	XP_011521993.1:p.Ile186Val
XM_011523692.2:c.115A>G (CTNS)	XP_011521994.1:p.Ile39Val
XM_017024254.1:c.115A>G (CTNS)	XP_016879743.1:p.Ile39Val
XM_017024255.1:c.115A>G (CTNS)	XP_016879744.1:p.Ile39Val
XM_017024256.1:c.115A>G (CTNS)	XP_016879745.1:p.Ile39Val
XM_017024257.1:c.115A>G (CTNS)	XP_016879746.1:p.Ile39Val
XM_017024258.1:c.115A>G (CTNS)	XP_016879747.1:p.Ile39Val
XR_934158.2:n.1160+275T>C (CTNS-AS1)
XR_934159.2:n.450+275T>C (CTNS-AS1)
XR_934160.2:n.455+275T>C (CTNS-AS1)
XR_934161.2:n.450+275T>C (CTNS-AS1)
XR_934162.3:n.455+275T>C (CTNS-AS1)
XR_934163.2:n.1051+275T>C (CTNS-AS1)
NM_001374492.1:c.556A>G (CTNS)	NP_001361421.1:p.Ile186Val
NM_001374493.1:c.115A>G (CTNS)	NP_001361422.1:p.Ile39Val
NM_001374494.1:c.115A>G (CTNS)	NP_001361423.1:p.Ile39Val
NM_001374495.1:c.115A>G (CTNS)	NP_001361424.1:p.Ile39Val
NM_001374496.1:c.115A>G (CTNS)	NP_001361425.1:p.Ile39Val
NM_004937.3:c.556A>G (CTNS) MANE Select	NP_004928.2:p.Ile186Val
NM_001031681.3:c.556A>G (CTNS)	NP_001026851.2:p.Ile186Val