Canonical Allele Identifier: CA397689992

Gene: CTNS CTNS-AS1

Linked Data

• MyVariant Identifiers: chr17:g.3558301C>A (hg19) ; chr17:g.3655007C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3655007C>A , CM000679.2:g.3655007C>A	GRCh38
NC_000017.10:g.3558301C>A , CM000679.1:g.3558301C>A	GRCh37
NC_000017.9:g.3505050C>A	NCBI36
NG_012489.1:g.23540C>A
NG_012489.2:g.23540C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.235C>A (CTNS) MANE Select	ENSP00000046640.4:p.Pro79Thr
ENST00000381870.8:c.235C>A (CTNS)	ENSP00000371294.3:p.Pro79Thr
ENST00000488623.6:c.-493C>A (CTNS)	ENSP00000501016.1:n.-493C>A
ENST00000574776.6:c.-112-214C>A (CTNS)	ENSP00000461118.2:n.-112-214C>A
ENST00000673669.1:c.-207C>A (CTNS)	ENSP00000501123.1:n.-207C>A
ENST00000673965.1:c.235C>A (CTNS)	ENSP00000500995.1:p.Pro79Thr
ENST00000046640.7:c.235C>A (CTNS)	ENSP00000046640.3:p.Pro79Thr
ENST00000381870.7:c.235C>A (CTNS)	ENSP00000371294.3:p.Pro79Thr
ENST00000467663.5:c.150C>A (CTNS)	ENSP00000461056.1:p.Cys50Ter
ENST00000488623.5:n.456C>A (CTNS)
ENST00000574218.1:c.-207C>A (CTNS)	ENSP00000458912.1:n.-207C>A
ENST00000574776.5:c.-112-214C>A (CTNS)	ENSP00000461118.1:n.-112-214C>A
ENST00000576979.1:c.235C>A (CTNS)	ENSP00000458457.1:p.Pro79Thr
NM_001031681.2:c.235C>A (CTNS)	NP_001026851.2:p.Pro79Thr
NM_004937.2:c.235C>A (CTNS)	NP_004928.2:p.Pro79Thr
XM_005256485.1:c.235C>A (CTNS)	XP_005256542.1:p.Pro79Thr
XM_006721463.1:c.235C>A (CTNS)	XP_006721526.1:p.Pro79Thr
XM_006721464.1:c.-207C>A (CTNS)	XP_006721527.1:n.-207C>A
XM_011523691.1:c.235C>A (CTNS)	XP_011521993.1:p.Pro79Thr
XM_011523692.1:c.-207C>A (CTNS)	XP_011521994.1:n.-207C>A
XR_934003.1:n.828C>A (CTNS)
XR_934158.1:n.1143+1849G>T (CTNS-AS1)
XR_934159.1:n.433+1849G>T (CTNS-AS1)
XR_934160.1:n.438+1849G>T (CTNS-AS1)
XR_934163.1:n.1034+1849G>T (CTNS-AS1)
XM_005256485.3:c.235C>A (CTNS)	XP_005256542.1:p.Pro79Thr
XM_006721463.3:c.235C>A (CTNS)	XP_006721526.1:p.Pro79Thr
XM_006721464.2:c.-207C>A (CTNS)	XP_006721527.1:n.-207C>A
XM_011523691.2:c.235C>A (CTNS)	XP_011521993.1:p.Pro79Thr
XM_011523692.2:c.-207C>A (CTNS)	XP_011521994.1:n.-207C>A
XM_017024254.1:c.-207C>A (CTNS)	XP_016879743.1:n.-207C>A
XM_017024255.1:c.-207C>A (CTNS)	XP_016879744.1:n.-207C>A
XM_017024256.1:c.-207C>A (CTNS)	XP_016879745.1:n.-207C>A
XM_017024257.1:c.-207C>A (CTNS)	XP_016879746.1:n.-207C>A
XM_017024258.1:c.-207C>A (CTNS)	XP_016879747.1:n.-207C>A
XR_934158.2:n.1160+1849G>T (CTNS-AS1)
XR_934159.2:n.450+1849G>T (CTNS-AS1)
XR_934160.2:n.455+1849G>T (CTNS-AS1)
XR_934163.2:n.1051+1849G>T (CTNS-AS1)
NM_001374492.1:c.235C>A (CTNS)	NP_001361421.1:p.Pro79Thr
NM_001374493.1:c.-207C>A (CTNS)	NP_001361422.1:n.-207C>A
NM_001374494.1:c.-207C>A (CTNS)	NP_001361423.1:n.-207C>A
NM_001374495.1:c.-207C>A (CTNS)	NP_001361424.1:n.-207C>A
NM_001374496.1:c.-207C>A (CTNS)	NP_001361425.1:n.-207C>A
NM_004937.3:c.235C>A (CTNS) MANE Select	NP_004928.2:p.Pro79Thr
NM_001031681.3:c.235C>A (CTNS)	NP_001026851.2:p.Pro79Thr