Canonical Allele Identifier: CA2243969780

Gene: CTNS

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636756C= , CM000679.2:g.3636756C=	GRCh38
NC_000017.10:g.3540050C= , CM000679.1:g.3540050C=	GRCh37
NC_000017.9:g.3486799C=	NCBI36
NG_012489.1:g.5289C=
NG_052852.1:g.4567G=
NG_012489.2:g.5289C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-230+48C=	ENSP00000371294.3:n.-230+48C=
ENST00000488623.6:c.-952C=	ENSP00000501016.1:n.-952C=
ENST00000574776.6:c.-478C=	ENSP00000461118.2:n.-478C=
ENST00000673669.1:c.-581C=	ENSP00000501123.1:n.-581C=
ENST00000673965.1:c.-230+53C=	ENSP00000500995.1:n.-230+53C=
ENST00000046640.7:c.-305C=	ENSP00000046640.3:n.-305C=
ENST00000381870.7:c.-230+48C=	ENSP00000371294.3:n.-230+48C=
ENST00000452111.5:c.-361C=	ENSP00000408652.1:n.-361C=
ENST00000495445.5:n.10C=
ENST00000574776.5:c.-478C=	ENSP00000461118.1:n.-478C=
NM_001031681.2:c.-230+48C=	NP_001026851.2:n.-230+48C=
NM_004937.2:c.-305C=	NP_004928.2:n.-305C=
XM_005256485.1:c.-305C=	XP_005256542.1:n.-305C=
XM_006721463.1:c.-230+53C=	XP_006721526.1:n.-230+53C=
XM_006721464.1:c.-661C=	XP_006721527.1:n.-661C=
XM_011523691.1:c.-361C=	XP_011521993.1:n.-361C=
XM_011523692.1:c.-666C=	XP_011521994.1:n.-666C=
XR_934003.1:n.289C=
XM_005256485.3:c.-305C=	XP_005256542.1:n.-305C=
XM_006721463.3:c.-230+53C=	XP_006721526.1:n.-230+53C=
XM_006721464.2:c.-661C=	XP_006721527.1:n.-661C=
XM_011523691.2:c.-361C=	XP_011521993.1:n.-361C=
XM_011523692.2:c.-666C=	XP_011521994.1:n.-666C=
XM_017024254.1:c.-582C=	XP_016879743.1:n.-582C=
XM_017024255.1:c.-661C=	XP_016879744.1:n.-661C=
XM_017024256.1:c.-666C=	XP_016879745.1:n.-666C=
XM_017024257.1:c.-582C=	XP_016879746.1:n.-582C=
XM_017024258.1:c.-581C=	XP_016879747.1:n.-581C=
NM_001031681.3:c.-230+48C=	NP_001026851.2:n.-230+48C=