Canonical Allele Identifier: CA8291559

Gene: CTNS

Linked Data

• dbSNP Id: rs750661418
• ExAC: 17:3550795 C / A
• gnomAD v2: 17-3550795-C-A
• gnomAD v4: 17-3647501-C-A
• MyVariant Identifiers: chr17:g.3550795C>A (hg19) ; chr17:g.3647501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3647501C>A , CM000679.2:g.3647501C>A	GRCh38
NC_000017.10:g.3550795C>A , CM000679.1:g.3550795C>A	GRCh37
NC_000017.9:g.3497544C>A	NCBI36
NG_012489.1:g.16034C>A
NG_012489.2:g.16034C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.119C>A MANE Select	ENSP00000046640.4:p.Thr40Asn
ENST00000381870.8:c.119C>A	ENSP00000371294.3:p.Thr40Asn
ENST00000399306.7:c.119C>A	ENSP00000382245.2:p.Thr40Asn
ENST00000488623.6:c.-609C>A	ENSP00000501016.1:n.-609C>A
ENST00000574776.6:c.-113+7234C>A	ENSP00000461118.2:n.-113+7234C>A
ENST00000673669.1:c.-238C>A	ENSP00000501123.1:n.-238C>A
ENST00000673965.1:c.119C>A	ENSP00000500995.1:p.Thr40Asn
ENST00000046640.7:c.119C>A	ENSP00000046640.3:p.Thr40Asn
ENST00000381870.7:c.119C>A	ENSP00000371294.3:p.Thr40Asn
ENST00000399306.6:c.119C>A	ENSP00000382245.2:p.Thr40Asn
ENST00000452111.5:c.119C>A	ENSP00000408652.1:p.Thr40Asn
ENST00000467663.5:c.119C>A	ENSP00000461056.1:p.Thr40Asn
ENST00000488623.5:n.340C>A
ENST00000495445.5:n.433C>A
ENST00000574218.1:c.-216-7497C>A	ENSP00000458912.1:n.-216-7497C>A
ENST00000574776.5:c.-113+7234C>A	ENSP00000461118.1:n.-113+7234C>A
ENST00000576979.1:c.119C>A	ENSP00000458457.1:p.Thr40Asn
NM_001031681.2:c.119C>A	NP_001026851.2:p.Thr40Asn
NM_004937.2:c.119C>A	NP_004928.2:p.Thr40Asn
XM_005256485.1:c.119C>A	XP_005256542.1:p.Thr40Asn
XM_006721463.1:c.119C>A	XP_006721526.1:p.Thr40Asn
XM_006721464.1:c.-238C>A	XP_006721527.1:n.-238C>A
XM_011523691.1:c.119C>A	XP_011521993.1:p.Thr40Asn
XM_011523692.1:c.-323C>A	XP_011521994.1:n.-323C>A
XR_934003.1:n.712C>A
XR_934164.1:n.431-2326G>T
XM_005256485.3:c.119C>A	XP_005256542.1:p.Thr40Asn
XM_006721463.3:c.119C>A	XP_006721526.1:p.Thr40Asn
XM_006721464.2:c.-238C>A	XP_006721527.1:n.-238C>A
XM_011523691.2:c.119C>A	XP_011521993.1:p.Thr40Asn
XM_011523692.2:c.-323C>A	XP_011521994.1:n.-323C>A
XM_017024254.1:c.-217+7234C>A	XP_016879743.1:n.-217+7234C>A
XM_017024255.1:c.-238C>A	XP_016879744.1:n.-238C>A
XM_017024256.1:c.-323C>A	XP_016879745.1:n.-323C>A
XM_017024257.1:c.-217+7234C>A	XP_016879746.1:n.-217+7234C>A
XM_017024258.1:c.-238C>A	XP_016879747.1:n.-238C>A
XR_001752758.1:n.453-2326G>T
XR_001752759.1:n.325-2326G>T
XR_001752760.1:n.453-2326G>T
XR_001752761.2:n.452+2663G>T
XR_002958115.1:n.140-2326G>T
XR_934164.2:n.453-2326G>T
NM_001374492.1:c.119C>A	NP_001361421.1:p.Thr40Asn
NM_001374493.1:c.-238C>A	NP_001361422.1:n.-238C>A
NM_001374494.1:c.-323C>A	NP_001361423.1:n.-323C>A
NM_001374495.1:c.-217+7234C>A	NP_001361424.1:n.-217+7234C>A
NM_001374496.1:c.-238C>A	NP_001361425.1:n.-238C>A
NM_004937.3:c.119C>A MANE Select	NP_004928.2:p.Thr40Asn
NM_001031681.3:c.119C>A	NP_001026851.2:p.Thr40Asn