Canonical Allele Identifier: CA10649100

Gene: CTNS

Linked Data

• ClinVar Variation Id: 322828
• ClinVar RCV Id: RCV000289166 ; RCV000381246
• dbSNP Id: rs886052864
• MyVariant Identifiers: chr17:g.3540556A>T (hg19) ; chr17:g.3637262A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3637262A>T , CM000679.2:g.3637262A>T	GRCh38
NC_000017.10:g.3540556A>T , CM000679.1:g.3540556A>T	GRCh37
NC_000017.9:g.3487305A>T	NCBI36
NG_012489.1:g.5795A>T
NG_052852.1:g.4061T>A
NG_012489.2:g.5795A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.-74A>T MANE Select	ENSP00000046640.4:n.-74A>T
ENST00000381870.8:c.-74A>T	ENSP00000371294.3:n.-74A>T
ENST00000399306.7:c.-74A>T	ENSP00000382245.2:n.-74A>T
ENST00000488623.6:c.-721A>T	ENSP00000501016.1:n.-721A>T
ENST00000574776.6:c.-247A>T	ENSP00000461118.2:n.-247A>T
ENST00000673669.1:c.-350A>T	ENSP00000501123.1:n.-350A>T
ENST00000673965.1:c.-74A>T	ENSP00000500995.1:n.-74A>T
ENST00000046640.7:c.-74A>T	ENSP00000046640.3:n.-74A>T
ENST00000381870.7:c.-74A>T	ENSP00000371294.3:n.-74A>T
ENST00000399306.6:c.-74A>T	ENSP00000382245.2:n.-74A>T
ENST00000452111.5:c.-74A>T	ENSP00000408652.1:n.-74A>T
ENST00000467663.5:c.-74A>T	ENSP00000461056.1:n.-74A>T
ENST00000488623.5:n.228A>T
ENST00000495445.5:n.241A>T
ENST00000574218.1:c.-271A>T	ENSP00000458912.1:n.-271A>T
ENST00000574776.5:c.-247A>T	ENSP00000461118.1:n.-247A>T
NM_001031681.2:c.-74A>T	NP_001026851.2:n.-74A>T
NM_004937.2:c.-74A>T	NP_004928.2:n.-74A>T
XM_005256485.1:c.-74A>T	XP_005256542.1:n.-74A>T
XM_006721463.1:c.-74A>T	XP_006721526.1:n.-74A>T
XM_006721464.1:c.-430A>T	XP_006721527.1:n.-430A>T
XM_011523691.1:c.-74A>T	XP_011521993.1:n.-74A>T
XM_011523692.1:c.-435A>T	XP_011521994.1:n.-435A>T
XR_934003.1:n.520A>T
XM_005256485.3:c.-74A>T	XP_005256542.1:n.-74A>T
XM_006721463.3:c.-74A>T	XP_006721526.1:n.-74A>T
XM_006721464.2:c.-430A>T	XP_006721527.1:n.-430A>T
XM_011523691.2:c.-74A>T	XP_011521993.1:n.-74A>T
XM_011523692.2:c.-435A>T	XP_011521994.1:n.-435A>T
XM_017024254.1:c.-351A>T	XP_016879743.1:n.-351A>T
XM_017024255.1:c.-430A>T	XP_016879744.1:n.-430A>T
XM_017024256.1:c.-435A>T	XP_016879745.1:n.-435A>T
XM_017024257.1:c.-351A>T	XP_016879746.1:n.-351A>T
XM_017024258.1:c.-350A>T	XP_016879747.1:n.-350A>T
NM_001374492.1:c.-74A>T	NP_001361421.1:n.-74A>T
NM_001374493.1:c.-430A>T	NP_001361422.1:n.-430A>T
NM_001374494.1:c.-435A>T	NP_001361423.1:n.-435A>T
NM_001374495.1:c.-351A>T	NP_001361424.1:n.-351A>T
NM_001374496.1:c.-350A>T	NP_001361425.1:n.-350A>T
NM_004937.3:c.-74A>T MANE Select	NP_004928.2:n.-74A>T
NM_001031681.3:c.-74A>T	NP_001026851.2:n.-74A>T