Canonical Allele Identifier: CA10649094

Gene: CTNS

Linked Data

• ClinVar Variation Id: 322825
• ClinVar RCV Id: RCV000267022 ; RCV000354758
• dbSNP Id: rs116000219
• gnomAD v2: 17-3540136-A-G
• gnomAD v3: 17-3636842-A-G
• gnomAD v4: 17-3636842-A-G
• MyVariant Identifiers: chr17:g.3540136A>G (hg19) ; chr17:g.3636842A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636842A>G , CM000679.2:g.3636842A>G	GRCh38
NC_000017.10:g.3540136A>G , CM000679.1:g.3540136A>G	GRCh37
NC_000017.9:g.3486885A>G	NCBI36
NG_012489.1:g.5375A>G
NG_052852.1:g.4481T>C
NG_012489.2:g.5375A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.-230+11A>G MANE Select	ENSP00000046640.4:n.-230+11A>G
ENST00000381870.8:c.-230+134A>G	ENSP00000371294.3:n.-230+134A>G
ENST00000399306.7:c.-230+11A>G	ENSP00000382245.2:n.-230+11A>G
ENST00000488623.6:c.-877+11A>G	ENSP00000501016.1:n.-877+11A>G
ENST00000574776.6:c.-403+11A>G	ENSP00000461118.2:n.-403+11A>G
ENST00000673669.1:c.-506+11A>G	ENSP00000501123.1:n.-506+11A>G
ENST00000673965.1:c.-230+139A>G	ENSP00000500995.1:n.-230+139A>G
ENST00000046640.7:c.-230+11A>G	ENSP00000046640.3:n.-230+11A>G
ENST00000381870.7:c.-230+134A>G	ENSP00000371294.3:n.-230+134A>G
ENST00000452111.5:c.-275A>G	ENSP00000408652.1:n.-275A>G
ENST00000467663.5:c.-230+11A>G	ENSP00000461056.1:n.-230+11A>G
ENST00000488623.5:n.72+11A>G
ENST00000495445.5:n.85+11A>G
ENST00000574218.1:c.-427+11A>G	ENSP00000458912.1:n.-427+11A>G
ENST00000574776.5:c.-403+11A>G	ENSP00000461118.1:n.-403+11A>G
NM_001031681.2:c.-230+134A>G	NP_001026851.2:n.-230+134A>G
NM_004937.2:c.-230+11A>G	NP_004928.2:n.-230+11A>G
XM_005256485.1:c.-230+11A>G	XP_005256542.1:n.-230+11A>G
XM_006721463.1:c.-230+139A>G	XP_006721526.1:n.-230+139A>G
XM_006721464.1:c.-586+11A>G	XP_006721527.1:n.-586+11A>G
XM_011523691.1:c.-275A>G	XP_011521993.1:n.-275A>G
XM_011523692.1:c.-591+11A>G	XP_011521994.1:n.-591+11A>G
XR_934003.1:n.364+11A>G
XM_005256485.3:c.-230+11A>G	XP_005256542.1:n.-230+11A>G
XM_006721463.3:c.-230+139A>G	XP_006721526.1:n.-230+139A>G
XM_006721464.2:c.-586+11A>G	XP_006721527.1:n.-586+11A>G
XM_011523691.2:c.-275A>G	XP_011521993.1:n.-275A>G
XM_011523692.2:c.-591+11A>G	XP_011521994.1:n.-591+11A>G
XM_017024254.1:c.-507+11A>G	XP_016879743.1:n.-507+11A>G
XM_017024255.1:c.-586+11A>G	XP_016879744.1:n.-586+11A>G
XM_017024256.1:c.-591+11A>G	XP_016879745.1:n.-591+11A>G
XM_017024257.1:c.-507+11A>G	XP_016879746.1:n.-507+11A>G
XM_017024258.1:c.-506+11A>G	XP_016879747.1:n.-506+11A>G
NM_001374492.1:c.-230+11A>G	NP_001361421.1:n.-230+11A>G
NM_001374493.1:c.-586+11A>G	NP_001361422.1:n.-586+11A>G
NM_001374494.1:c.-591+11A>G	NP_001361423.1:n.-591+11A>G
NM_001374495.1:c.-507+11A>G	NP_001361424.1:n.-507+11A>G
NM_001374496.1:c.-506+11A>G	NP_001361425.1:n.-506+11A>G
NM_004937.3:c.-230+11A>G MANE Select	NP_004928.2:n.-230+11A>G
NM_001031681.3:c.-230+134A>G	NP_001026851.2:n.-230+134A>G