Canonical Allele Identifier: CA497460023

Gene: CTNS

Linked Data

• ClinVar Variation Id: 1130210
• ClinVar RCV Id: RCV002561265
• dbSNP Id: rs765428193
• gnomAD v2: 17-3550793-G-C
• gnomAD v3: 17-3647499-G-C
• gnomAD v4: 17-3647499-G-C
• MyVariant Identifiers: chr17:g.3550793G>C (hg19) ; chr17:g.3647499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3647499G>C , CM000679.2:g.3647499G>C	GRCh38
NC_000017.10:g.3550793G>C , CM000679.1:g.3550793G>C	GRCh37
NC_000017.9:g.3497542G>C	NCBI36
NG_012489.1:g.16032G>C
NG_012489.2:g.16032G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.117G>C MANE Select	ENSP00000046640.4:p.Ser39=
ENST00000381870.8:c.117G>C	ENSP00000371294.3:p.Ser39=
ENST00000399306.7:c.117G>C	ENSP00000382245.2:p.Ser39=
ENST00000488623.6:c.-611G>C	ENSP00000501016.1:n.-611G>C
ENST00000574776.6:c.-113+7232G>C	ENSP00000461118.2:n.-113+7232G>C
ENST00000673669.1:c.-240G>C	ENSP00000501123.1:n.-240G>C
ENST00000673965.1:c.117G>C	ENSP00000500995.1:p.Ser39=
ENST00000046640.7:c.117G>C	ENSP00000046640.3:p.Ser39=
ENST00000381870.7:c.117G>C	ENSP00000371294.3:p.Ser39=
ENST00000399306.6:c.117G>C	ENSP00000382245.2:p.Ser39=
ENST00000452111.5:c.117G>C	ENSP00000408652.1:p.Ser39=
ENST00000467663.5:c.117G>C	ENSP00000461056.1:p.Ser39=
ENST00000488623.5:n.338G>C
ENST00000495445.5:n.431G>C
ENST00000574218.1:c.-216-7499G>C	ENSP00000458912.1:n.-216-7499G>C
ENST00000574776.5:c.-113+7232G>C	ENSP00000461118.1:n.-113+7232G>C
ENST00000576979.1:c.117G>C	ENSP00000458457.1:p.Ser39=
NM_001031681.2:c.117G>C	NP_001026851.2:p.Ser39=
NM_004937.2:c.117G>C	NP_004928.2:p.Ser39=
XM_005256485.1:c.117G>C	XP_005256542.1:p.Ser39=
XM_006721463.1:c.117G>C	XP_006721526.1:p.Ser39=
XM_006721464.1:c.-240G>C	XP_006721527.1:n.-240G>C
XM_011523691.1:c.117G>C	XP_011521993.1:p.Ser39=
XM_011523692.1:c.-325G>C	XP_011521994.1:n.-325G>C
XR_934003.1:n.710G>C
XR_934164.1:n.431-2324C>G
XM_005256485.3:c.117G>C	XP_005256542.1:p.Ser39=
XM_006721463.3:c.117G>C	XP_006721526.1:p.Ser39=
XM_006721464.2:c.-240G>C	XP_006721527.1:n.-240G>C
XM_011523691.2:c.117G>C	XP_011521993.1:p.Ser39=
XM_011523692.2:c.-325G>C	XP_011521994.1:n.-325G>C
XM_017024254.1:c.-217+7232G>C	XP_016879743.1:n.-217+7232G>C
XM_017024255.1:c.-240G>C	XP_016879744.1:n.-240G>C
XM_017024256.1:c.-325G>C	XP_016879745.1:n.-325G>C
XM_017024257.1:c.-217+7232G>C	XP_016879746.1:n.-217+7232G>C
XM_017024258.1:c.-240G>C	XP_016879747.1:n.-240G>C
XR_001752758.1:n.453-2324C>G
XR_001752759.1:n.325-2324C>G
XR_001752760.1:n.453-2324C>G
XR_001752761.2:n.452+2665C>G
XR_002958115.1:n.140-2324C>G
XR_934164.2:n.453-2324C>G
NM_001374492.1:c.117G>C	NP_001361421.1:p.Ser39=
NM_001374493.1:c.-240G>C	NP_001361422.1:n.-240G>C
NM_001374494.1:c.-325G>C	NP_001361423.1:n.-325G>C
NM_001374495.1:c.-217+7232G>C	NP_001361424.1:n.-217+7232G>C
NM_001374496.1:c.-240G>C	NP_001361425.1:n.-240G>C
NM_004937.3:c.117G>C MANE Select	NP_004928.2:p.Ser39=
NM_001031681.3:c.117G>C	NP_001026851.2:p.Ser39=