Canonical Allele Identifier: CA2243969831

Gene: CTNS

Linked Data

• dbSNP Id: rs2075540454

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636821G>C , CM000679.2:g.3636821G>C	GRCh38
NC_000017.10:g.3540115G>C , CM000679.1:g.3540115G>C	GRCh37
NC_000017.9:g.3486864G>C	NCBI36
NG_012489.1:g.5354G>C
NG_052852.1:g.4502C>G
NG_012489.2:g.5354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.-240G>C MANE Select	ENSP00000046640.4:n.-240G>C
ENST00000381870.8:c.-230+113G>C	ENSP00000371294.3:n.-230+113G>C
ENST00000488623.6:c.-887G>C	ENSP00000501016.1:n.-887G>C
ENST00000574776.6:c.-413G>C	ENSP00000461118.2:n.-413G>C
ENST00000673669.1:c.-516G>C	ENSP00000501123.1:n.-516G>C
ENST00000673965.1:c.-230+118G>C	ENSP00000500995.1:n.-230+118G>C
ENST00000046640.7:c.-240G>C	ENSP00000046640.3:n.-240G>C
ENST00000381870.7:c.-230+113G>C	ENSP00000371294.3:n.-230+113G>C
ENST00000452111.5:c.-296G>C	ENSP00000408652.1:n.-296G>C
ENST00000467663.5:c.-240G>C	ENSP00000461056.1:n.-240G>C
ENST00000488623.5:n.62G>C
ENST00000495445.5:n.75G>C
ENST00000574218.1:c.-437G>C	ENSP00000458912.1:n.-437G>C
ENST00000574776.5:c.-413G>C	ENSP00000461118.1:n.-413G>C
NM_001031681.2:c.-230+113G>C	NP_001026851.2:n.-230+113G>C
NM_004937.2:c.-240G>C	NP_004928.2:n.-240G>C
XM_005256485.1:c.-240G>C	XP_005256542.1:n.-240G>C
XM_006721463.1:c.-230+118G>C	XP_006721526.1:n.-230+118G>C
XM_006721464.1:c.-596G>C	XP_006721527.1:n.-596G>C
XM_011523691.1:c.-296G>C	XP_011521993.1:n.-296G>C
XM_011523692.1:c.-601G>C	XP_011521994.1:n.-601G>C
XR_934003.1:n.354G>C
XM_005256485.3:c.-240G>C	XP_005256542.1:n.-240G>C
XM_006721463.3:c.-230+118G>C	XP_006721526.1:n.-230+118G>C
XM_006721464.2:c.-596G>C	XP_006721527.1:n.-596G>C
XM_011523691.2:c.-296G>C	XP_011521993.1:n.-296G>C
XM_011523692.2:c.-601G>C	XP_011521994.1:n.-601G>C
XM_017024254.1:c.-517G>C	XP_016879743.1:n.-517G>C
XM_017024255.1:c.-596G>C	XP_016879744.1:n.-596G>C
XM_017024256.1:c.-601G>C	XP_016879745.1:n.-601G>C
XM_017024257.1:c.-517G>C	XP_016879746.1:n.-517G>C
XM_017024258.1:c.-516G>C	XP_016879747.1:n.-516G>C
NM_001374492.1:c.-240G>C	NP_001361421.1:n.-240G>C
NM_001374493.1:c.-596G>C	NP_001361422.1:n.-596G>C
NM_001374494.1:c.-601G>C	NP_001361423.1:n.-601G>C
NM_001374495.1:c.-517G>C	NP_001361424.1:n.-517G>C
NM_001374496.1:c.-516G>C	NP_001361425.1:n.-516G>C
NM_004937.3:c.-240G>C MANE Select	NP_004928.2:n.-240G>C
NM_001031681.3:c.-230+113G>C	NP_001026851.2:n.-230+113G>C