Canonical Allele Identifier: CA397693023

Gene: CTNS

Linked Data

• dbSNP Id: rs1341927053
• gnomAD v2: 17-3563180-C-T
• gnomAD v4: 17-3659886-C-T
• MyVariant Identifiers: chr17:g.3563180C>T (hg19) ; chr17:g.3659886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3659886C>T , CM000679.2:g.3659886C>T	GRCh38
NC_000017.10:g.3563180C>T , CM000679.1:g.3563180C>T	GRCh37
NC_000017.9:g.3509929C>T	NCBI36
NG_012489.1:g.28419C>T
NG_012489.2:g.28419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.881C>T MANE Select	ENSP00000046640.4:p.Thr294Ile
ENST00000381870.8:c.881C>T	ENSP00000371294.3:p.Thr294Ile
ENST00000488623.6:c.128C>T	ENSP00000501016.1:p.Thr43Ile
ENST00000574776.6:c.440C>T	ENSP00000461118.2:p.Thr147Ile
ENST00000673669.1:c.440C>T	ENSP00000501123.1:p.Thr147Ile
ENST00000673965.1:c.881C>T	ENSP00000500995.1:p.Thr294Ile
ENST00000046640.7:c.881C>T	ENSP00000046640.3:p.Thr294Ile
ENST00000381870.7:c.881C>T	ENSP00000371294.3:p.Thr294Ile
NM_001031681.2:c.881C>T	NP_001026851.2:p.Thr294Ile
NM_004937.2:c.881C>T	NP_004928.2:p.Thr294Ile
XM_005256485.1:c.881C>T	XP_005256542.1:p.Thr294Ile
XM_006721463.1:c.881C>T	XP_006721526.1:p.Thr294Ile
XM_006721464.1:c.440C>T	XP_006721527.1:p.Thr147Ile
XM_011523691.1:c.881C>T	XP_011521993.1:p.Thr294Ile
XM_011523692.1:c.440C>T	XP_011521994.1:p.Thr147Ile
XR_934003.1:n.2807C>T
XM_005256485.3:c.881C>T	XP_005256542.1:p.Thr294Ile
XM_006721463.3:c.881C>T	XP_006721526.1:p.Thr294Ile
XM_006721464.2:c.440C>T	XP_006721527.1:p.Thr147Ile
XM_011523691.2:c.881C>T	XP_011521993.1:p.Thr294Ile
XM_011523692.2:c.440C>T	XP_011521994.1:p.Thr147Ile
XM_017024254.1:c.440C>T	XP_016879743.1:p.Thr147Ile
XM_017024255.1:c.440C>T	XP_016879744.1:p.Thr147Ile
XM_017024256.1:c.440C>T	XP_016879745.1:p.Thr147Ile
XM_017024257.1:c.440C>T	XP_016879746.1:p.Thr147Ile
XM_017024258.1:c.440C>T	XP_016879747.1:p.Thr147Ile
NM_001374492.1:c.881C>T	NP_001361421.1:p.Thr294Ile
NM_001374493.1:c.440C>T	NP_001361422.1:p.Thr147Ile
NM_001374494.1:c.440C>T	NP_001361423.1:p.Thr147Ile
NM_001374495.1:c.440C>T	NP_001361424.1:p.Thr147Ile
NM_001374496.1:c.440C>T	NP_001361425.1:p.Thr147Ile
NM_004937.3:c.881C>T MANE Select	NP_004928.2:p.Thr294Ile
NM_001031681.3:c.881C>T	NP_001026851.2:p.Thr294Ile