Canonical Allele Identifier: CA728465894

Gene: CTNS

Linked Data

• dbSNP Id: rs1309360287
• gnomAD v3: 17-3636817-C-G
• gnomAD v4: 17-3636817-C-G
• MyVariant Identifiers: chr17:g.3540111C>G (hg19) ; chr17:g.3636817C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636817C>G , CM000679.2:g.3636817C>G	GRCh38
NC_000017.10:g.3540111C>G , CM000679.1:g.3540111C>G	GRCh37
NC_000017.9:g.3486860C>G	NCBI36
NG_012489.1:g.5350C>G
NG_052852.1:g.4506G>C
NG_012489.2:g.5350C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.-244C>G MANE Select	ENSP00000046640.4:n.-244C>G
ENST00000381870.8:c.-230+109C>G	ENSP00000371294.3:n.-230+109C>G
ENST00000488623.6:c.-891C>G	ENSP00000501016.1:n.-891C>G
ENST00000574776.6:c.-417C>G	ENSP00000461118.2:n.-417C>G
ENST00000673669.1:c.-520C>G	ENSP00000501123.1:n.-520C>G
ENST00000673965.1:c.-230+114C>G	ENSP00000500995.1:n.-230+114C>G
ENST00000046640.7:c.-244C>G	ENSP00000046640.3:n.-244C>G
ENST00000381870.7:c.-230+109C>G	ENSP00000371294.3:n.-230+109C>G
ENST00000452111.5:c.-300C>G	ENSP00000408652.1:n.-300C>G
ENST00000467663.5:c.-244C>G	ENSP00000461056.1:n.-244C>G
ENST00000488623.5:n.58C>G
ENST00000495445.5:n.71C>G
ENST00000574218.1:c.-441C>G	ENSP00000458912.1:n.-441C>G
ENST00000574776.5:c.-417C>G	ENSP00000461118.1:n.-417C>G
NM_001031681.2:c.-230+109C>G	NP_001026851.2:n.-230+109C>G
NM_004937.2:c.-244C>G	NP_004928.2:n.-244C>G
XM_005256485.1:c.-244C>G	XP_005256542.1:n.-244C>G
XM_006721463.1:c.-230+114C>G	XP_006721526.1:n.-230+114C>G
XM_006721464.1:c.-600C>G	XP_006721527.1:n.-600C>G
XM_011523691.1:c.-300C>G	XP_011521993.1:n.-300C>G
XM_011523692.1:c.-605C>G	XP_011521994.1:n.-605C>G
XR_934003.1:n.350C>G
XM_005256485.3:c.-244C>G	XP_005256542.1:n.-244C>G
XM_006721463.3:c.-230+114C>G	XP_006721526.1:n.-230+114C>G
XM_006721464.2:c.-600C>G	XP_006721527.1:n.-600C>G
XM_011523691.2:c.-300C>G	XP_011521993.1:n.-300C>G
XM_011523692.2:c.-605C>G	XP_011521994.1:n.-605C>G
XM_017024254.1:c.-521C>G	XP_016879743.1:n.-521C>G
XM_017024255.1:c.-600C>G	XP_016879744.1:n.-600C>G
XM_017024256.1:c.-605C>G	XP_016879745.1:n.-605C>G
XM_017024257.1:c.-521C>G	XP_016879746.1:n.-521C>G
XM_017024258.1:c.-520C>G	XP_016879747.1:n.-520C>G
NM_001374492.1:c.-244C>G	NP_001361421.1:n.-244C>G
NM_001374493.1:c.-600C>G	NP_001361422.1:n.-600C>G
NM_001374494.1:c.-605C>G	NP_001361423.1:n.-605C>G
NM_001374495.1:c.-521C>G	NP_001361424.1:n.-521C>G
NM_001374496.1:c.-520C>G	NP_001361425.1:n.-520C>G
NM_004937.3:c.-244C>G MANE Select	NP_004928.2:n.-244C>G
NM_001031681.3:c.-230+109C>G	NP_001026851.2:n.-230+109C>G