Canonical Allele Identifier: CA8291781

Gene: CTNS CTNS-AS1

Linked Data

• dbSNP Id: rs372542386
• ExAC: 17:3559918 C / T
• gnomAD v2: 17-3559918-C-T
• gnomAD v3: 17-3656624-C-T
• gnomAD v4: 17-3656624-C-T
• MyVariant Identifiers: chr17:g.3559918C>T (hg19) ; chr17:g.3559918_3559921delinsTGTG (hg19) ; chr17:g.3656624C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3656624C>T , CM000679.2:g.3656624C>T	GRCh38
NC_000017.10:g.3559918C>T , CM000679.1:g.3559918C>T	GRCh37
NC_000017.9:g.3506667C>T	NCBI36
NG_012489.1:g.25157C>T
NG_012489.2:g.25157C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.561+38C>T (CTNS) MANE Select	ENSP00000046640.4:n.561+38C>T
ENST00000381870.8:c.561+38C>T (CTNS)	ENSP00000371294.3:n.561+38C>T
ENST00000488623.6:c.-193+38C>T (CTNS)	ENSP00000501016.1:n.-193+38C>T
ENST00000574776.6:c.120+38C>T (CTNS)	ENSP00000461118.2:n.120+38C>T
ENST00000673669.1:c.120+38C>T (CTNS)	ENSP00000501123.1:n.120+38C>T
ENST00000673965.1:c.561+38C>T (CTNS)	ENSP00000500995.1:n.561+38C>T
ENST00000046640.7:c.561+38C>T (CTNS)	ENSP00000046640.3:n.561+38C>T
ENST00000381870.7:c.561+38C>T (CTNS)	ENSP00000371294.3:n.561+38C>T
NM_001031681.2:c.561+38C>T (CTNS)	NP_001026851.2:n.561+38C>T
NM_004937.2:c.561+38C>T (CTNS)	NP_004928.2:n.561+38C>T
XM_005256485.1:c.561+38C>T (CTNS)	XP_005256542.1:n.561+38C>T
XM_006721463.1:c.561+38C>T (CTNS)	XP_006721526.1:n.561+38C>T
XM_006721464.1:c.120+38C>T (CTNS)	XP_006721527.1:n.120+38C>T
XM_011523691.1:c.561+38C>T (CTNS)	XP_011521993.1:n.561+38C>T
XM_011523692.1:c.120+38C>T (CTNS)	XP_011521994.1:n.120+38C>T
XR_934003.1:n.1154+38C>T (CTNS)
XR_934158.1:n.1143+232G>A (CTNS-AS1)
XR_934159.1:n.433+232G>A (CTNS-AS1)
XR_934160.1:n.438+232G>A (CTNS-AS1)
XR_934161.1:n.433+232G>A (CTNS-AS1)
XR_934162.1:n.438+232G>A (CTNS-AS1)
XR_934163.1:n.1034+232G>A (CTNS-AS1)
XM_005256485.3:c.561+38C>T (CTNS)	XP_005256542.1:n.561+38C>T
XM_006721463.3:c.561+38C>T (CTNS)	XP_006721526.1:n.561+38C>T
XM_006721464.2:c.120+38C>T (CTNS)	XP_006721527.1:n.120+38C>T
XM_011523691.2:c.561+38C>T (CTNS)	XP_011521993.1:n.561+38C>T
XM_011523692.2:c.120+38C>T (CTNS)	XP_011521994.1:n.120+38C>T
XM_017024254.1:c.120+38C>T (CTNS)	XP_016879743.1:n.120+38C>T
XM_017024255.1:c.120+38C>T (CTNS)	XP_016879744.1:n.120+38C>T
XM_017024256.1:c.120+38C>T (CTNS)	XP_016879745.1:n.120+38C>T
XM_017024257.1:c.120+38C>T (CTNS)	XP_016879746.1:n.120+38C>T
XM_017024258.1:c.120+38C>T (CTNS)	XP_016879747.1:n.120+38C>T
XR_934158.2:n.1160+232G>A (CTNS-AS1)
XR_934159.2:n.450+232G>A (CTNS-AS1)
XR_934160.2:n.455+232G>A (CTNS-AS1)
XR_934161.2:n.450+232G>A (CTNS-AS1)
XR_934162.3:n.455+232G>A (CTNS-AS1)
XR_934163.2:n.1051+232G>A (CTNS-AS1)
NM_001374492.1:c.561+38C>T (CTNS)	NP_001361421.1:n.561+38C>T
NM_001374493.1:c.120+38C>T (CTNS)	NP_001361422.1:n.120+38C>T
NM_001374494.1:c.120+38C>T (CTNS)	NP_001361423.1:n.120+38C>T
NM_001374495.1:c.120+38C>T (CTNS)	NP_001361424.1:n.120+38C>T
NM_001374496.1:c.120+38C>T (CTNS)	NP_001361425.1:n.120+38C>T
NM_004937.3:c.561+38C>T (CTNS) MANE Select	NP_004928.2:n.561+38C>T
NM_001031681.3:c.561+38C>T (CTNS)	NP_001026851.2:n.561+38C>T