Canonical Allele Identifier: CA2635388483

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636771-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636771C>T , CM000679.2:g.3636771C>T	GRCh38
NC_000017.10:g.3540065C>T , CM000679.1:g.3540065C>T	GRCh37
NC_000017.9:g.3486814C>T	NCBI36
NG_012489.1:g.5304C>T
NG_052852.1:g.4552G>A
NG_012489.2:g.5304C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.-290C>T MANE Select	ENSP00000046640.4:n.-290C>T
ENST00000381870.8:c.-230+63C>T	ENSP00000371294.3:n.-230+63C>T
ENST00000488623.6:c.-937C>T	ENSP00000501016.1:n.-937C>T
ENST00000574776.6:c.-463C>T	ENSP00000461118.2:n.-463C>T
ENST00000673669.1:c.-566C>T	ENSP00000501123.1:n.-566C>T
ENST00000673965.1:c.-230+68C>T	ENSP00000500995.1:n.-230+68C>T
ENST00000046640.7:c.-290C>T	ENSP00000046640.3:n.-290C>T
ENST00000381870.7:c.-230+63C>T	ENSP00000371294.3:n.-230+63C>T
ENST00000452111.5:c.-346C>T	ENSP00000408652.1:n.-346C>T
ENST00000467663.5:c.-290C>T	ENSP00000461056.1:n.-290C>T
ENST00000488623.5:n.12C>T
ENST00000495445.5:n.25C>T
ENST00000574218.1:c.-487C>T	ENSP00000458912.1:n.-487C>T
ENST00000574776.5:c.-463C>T	ENSP00000461118.1:n.-463C>T
NM_001031681.2:c.-230+63C>T	NP_001026851.2:n.-230+63C>T
NM_004937.2:c.-290C>T	NP_004928.2:n.-290C>T
XM_005256485.1:c.-290C>T	XP_005256542.1:n.-290C>T
XM_006721463.1:c.-230+68C>T	XP_006721526.1:n.-230+68C>T
XM_006721464.1:c.-646C>T	XP_006721527.1:n.-646C>T
XM_011523691.1:c.-346C>T	XP_011521993.1:n.-346C>T
XM_011523692.1:c.-651C>T	XP_011521994.1:n.-651C>T
XR_934003.1:n.304C>T
XM_005256485.3:c.-290C>T	XP_005256542.1:n.-290C>T
XM_006721463.3:c.-230+68C>T	XP_006721526.1:n.-230+68C>T
XM_006721464.2:c.-646C>T	XP_006721527.1:n.-646C>T
XM_011523691.2:c.-346C>T	XP_011521993.1:n.-346C>T
XM_011523692.2:c.-651C>T	XP_011521994.1:n.-651C>T
XM_017024254.1:c.-567C>T	XP_016879743.1:n.-567C>T
XM_017024255.1:c.-646C>T	XP_016879744.1:n.-646C>T
XM_017024256.1:c.-651C>T	XP_016879745.1:n.-651C>T
XM_017024257.1:c.-567C>T	XP_016879746.1:n.-567C>T
XM_017024258.1:c.-566C>T	XP_016879747.1:n.-566C>T
NM_001374492.1:c.-290C>T	NP_001361421.1:n.-290C>T
NM_001374493.1:c.-646C>T	NP_001361422.1:n.-646C>T
NM_001374494.1:c.-651C>T	NP_001361423.1:n.-651C>T
NM_001374495.1:c.-567C>T	NP_001361424.1:n.-567C>T
NM_001374496.1:c.-566C>T	NP_001361425.1:n.-566C>T
NM_004937.3:c.-290C>T MANE Select	NP_004928.2:n.-290C>T
NM_001031681.3:c.-230+63C>T	NP_001026851.2:n.-230+63C>T