Canonical Allele Identifier: CA16041839

Gene: CTNS

Linked Data

• ClinVar Variation Id: 371515
• ClinVar RCV Id: RCV000411915
• dbSNP Id: rs1057517330
• MyVariant Identifiers: chr17:g.3563661T>C (hg19) ; chr17:g.3660367T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3660367T>C , CM000679.2:g.3660367T>C	GRCh38
NC_000017.10:g.3563661T>C , CM000679.1:g.3563661T>C	GRCh37
NC_000017.9:g.3510410T>C	NCBI36
NG_012489.1:g.28900T>C
NG_012489.2:g.28900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.1102T>C MANE Select	ENSP00000046640.4:p.Ter368Gln
ENST00000381870.8:c.1085+17T>C	ENSP00000371294.3:n.1085+17T>C
ENST00000488623.6:c.349T>C	ENSP00000501016.1:p.Ter117Gln
ENST00000574776.6:c.644+17T>C	ENSP00000461118.2:n.644+17T>C
ENST00000673669.1:c.661T>C	ENSP00000501123.1:p.Ter221Gln
ENST00000673965.1:c.1102T>C	ENSP00000500995.1:p.Ter368Gln
ENST00000046640.7:c.1102T>C	ENSP00000046640.3:p.Ter368Gln
ENST00000381870.7:c.1085+17T>C	ENSP00000371294.3:n.1085+17T>C
NM_001031681.2:c.1085+17T>C	NP_001026851.2:n.1085+17T>C
NM_004937.2:c.1102T>C	NP_004928.2:p.Ter368Gln
XM_005256485.1:c.1085+17T>C	XP_005256542.1:n.1085+17T>C
XM_006721463.1:c.1085+17T>C	XP_006721526.1:n.1085+17T>C
XM_006721464.1:c.644+17T>C	XP_006721527.1:n.644+17T>C
XM_011523691.1:c.1085+17T>C	XP_011521993.1:n.1085+17T>C
XM_011523692.1:c.644+17T>C	XP_011521994.1:n.644+17T>C
XM_005256485.3:c.1085+17T>C	XP_005256542.1:n.1085+17T>C
XM_006721463.3:c.1085+17T>C	XP_006721526.1:n.1085+17T>C
XM_006721464.2:c.644+17T>C	XP_006721527.1:n.644+17T>C
XM_011523691.2:c.1085+17T>C	XP_011521993.1:n.1085+17T>C
XM_011523692.2:c.644+17T>C	XP_011521994.1:n.644+17T>C
XM_017024254.1:c.644+17T>C	XP_016879743.1:n.644+17T>C
XM_017024255.1:c.661T>C	XP_016879744.1:p.Ter221Gln
XM_017024256.1:c.661T>C	XP_016879745.1:p.Ter221Gln
XM_017024257.1:c.661T>C	XP_016879746.1:p.Ter221Gln
XM_017024258.1:c.661T>C	XP_016879747.1:p.Ter221Gln
NM_001374492.1:c.1085+17T>C	NP_001361421.1:n.1085+17T>C
NM_001374493.1:c.661T>C	NP_001361422.1:p.Ter221Gln
NM_001374494.1:c.661T>C	NP_001361423.1:p.Ter221Gln
NM_001374495.1:c.661T>C	NP_001361424.1:p.Ter221Gln
NM_001374496.1:c.661T>C	NP_001361425.1:p.Ter221Gln
NM_004937.3:c.1102T>C MANE Select	NP_004928.2:p.Ter368Gln
NM_001031681.3:c.1085+17T>C	NP_001026851.2:n.1085+17T>C