Canonical Allele Identifier: CA497459902

Gene: CTNS

Linked Data

• ClinVar Variation Id: 1160973
• ClinVar RCV Id: RCV002564172
• dbSNP Id: rs2150904661
• MyVariant Identifiers: chr17:g.3550775G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3647481G>A , CM000679.2:g.3647481G>A	GRCh38
NC_000017.10:g.3550775G>A , CM000679.1:g.3550775G>A	GRCh37
NC_000017.9:g.3497524G>A	NCBI36
NG_012489.1:g.16014G>A
NG_012489.2:g.16014G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.99G>A MANE Select	ENSP00000046640.4:p.Lys33=
ENST00000381870.8:c.99G>A	ENSP00000371294.3:p.Lys33=
ENST00000399306.7:c.99G>A	ENSP00000382245.2:p.Lys33=
ENST00000488623.6:c.-629G>A	ENSP00000501016.1:n.-629G>A
ENST00000574776.6:c.-113+7214G>A	ENSP00000461118.2:n.-113+7214G>A
ENST00000673669.1:c.-258G>A	ENSP00000501123.1:n.-258G>A
ENST00000673965.1:c.99G>A	ENSP00000500995.1:p.Lys33=
ENST00000046640.7:c.99G>A	ENSP00000046640.3:p.Lys33=
ENST00000381870.7:c.99G>A	ENSP00000371294.3:p.Lys33=
ENST00000399306.6:c.99G>A	ENSP00000382245.2:p.Lys33=
ENST00000452111.5:c.99G>A	ENSP00000408652.1:p.Lys33=
ENST00000467663.5:c.99G>A	ENSP00000461056.1:p.Lys33=
ENST00000488623.5:n.320G>A
ENST00000495445.5:n.413G>A
ENST00000574218.1:c.-216-7517G>A	ENSP00000458912.1:n.-216-7517G>A
ENST00000574776.5:c.-113+7214G>A	ENSP00000461118.1:n.-113+7214G>A
ENST00000576979.1:c.99G>A	ENSP00000458457.1:p.Lys33=
NM_001031681.2:c.99G>A	NP_001026851.2:p.Lys33=
NM_004937.2:c.99G>A	NP_004928.2:p.Lys33=
XM_005256485.1:c.99G>A	XP_005256542.1:p.Lys33=
XM_006721463.1:c.99G>A	XP_006721526.1:p.Lys33=
XM_006721464.1:c.-258G>A	XP_006721527.1:n.-258G>A
XM_011523691.1:c.99G>A	XP_011521993.1:p.Lys33=
XM_011523692.1:c.-343G>A	XP_011521994.1:n.-343G>A
XR_934003.1:n.692G>A
XR_934164.1:n.431-2306C>T
XM_005256485.3:c.99G>A	XP_005256542.1:p.Lys33=
XM_006721463.3:c.99G>A	XP_006721526.1:p.Lys33=
XM_006721464.2:c.-258G>A	XP_006721527.1:n.-258G>A
XM_011523691.2:c.99G>A	XP_011521993.1:p.Lys33=
XM_011523692.2:c.-343G>A	XP_011521994.1:n.-343G>A
XM_017024254.1:c.-217+7214G>A	XP_016879743.1:n.-217+7214G>A
XM_017024255.1:c.-258G>A	XP_016879744.1:n.-258G>A
XM_017024256.1:c.-343G>A	XP_016879745.1:n.-343G>A
XM_017024257.1:c.-217+7214G>A	XP_016879746.1:n.-217+7214G>A
XM_017024258.1:c.-258G>A	XP_016879747.1:n.-258G>A
XR_001752758.1:n.453-2306C>T
XR_001752759.1:n.325-2306C>T
XR_001752760.1:n.453-2306C>T
XR_001752761.2:n.452+2683C>T
XR_002958115.1:n.140-2306C>T
XR_934164.2:n.453-2306C>T
NM_001374492.1:c.99G>A	NP_001361421.1:p.Lys33=
NM_001374493.1:c.-258G>A	NP_001361422.1:n.-258G>A
NM_001374494.1:c.-343G>A	NP_001361423.1:n.-343G>A
NM_001374495.1:c.-217+7214G>A	NP_001361424.1:n.-217+7214G>A
NM_001374496.1:c.-258G>A	NP_001361425.1:n.-258G>A
NM_004937.3:c.99G>A MANE Select	NP_004928.2:p.Lys33=
NM_001031681.3:c.99G>A	NP_001026851.2:p.Lys33=