Canonical Allele Identifier: CA397687063

Gene: CTNS

Linked Data

• MyVariant Identifiers: chr17:g.3550780A>T (hg19) ; chr17:g.3647486A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3647486A>T , CM000679.2:g.3647486A>T	GRCh38
NC_000017.10:g.3550780A>T , CM000679.1:g.3550780A>T	GRCh37
NC_000017.9:g.3497529A>T	NCBI36
NG_012489.1:g.16019A>T
NG_012489.2:g.16019A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.104A>T MANE Select	ENSP00000046640.4:p.Glu35Val
ENST00000381870.8:c.104A>T	ENSP00000371294.3:p.Glu35Val
ENST00000399306.7:c.104A>T	ENSP00000382245.2:p.Glu35Val
ENST00000488623.6:c.-624A>T	ENSP00000501016.1:n.-624A>T
ENST00000574776.6:c.-113+7219A>T	ENSP00000461118.2:n.-113+7219A>T
ENST00000673669.1:c.-253A>T	ENSP00000501123.1:n.-253A>T
ENST00000673965.1:c.104A>T	ENSP00000500995.1:p.Glu35Val
ENST00000046640.7:c.104A>T	ENSP00000046640.3:p.Glu35Val
ENST00000381870.7:c.104A>T	ENSP00000371294.3:p.Glu35Val
ENST00000399306.6:c.104A>T	ENSP00000382245.2:p.Glu35Val
ENST00000452111.5:c.104A>T	ENSP00000408652.1:p.Glu35Val
ENST00000467663.5:c.104A>T	ENSP00000461056.1:p.Glu35Val
ENST00000488623.5:n.325A>T
ENST00000495445.5:n.418A>T
ENST00000574218.1:c.-216-7512A>T	ENSP00000458912.1:n.-216-7512A>T
ENST00000574776.5:c.-113+7219A>T	ENSP00000461118.1:n.-113+7219A>T
ENST00000576979.1:c.104A>T	ENSP00000458457.1:p.Glu35Val
NM_001031681.2:c.104A>T	NP_001026851.2:p.Glu35Val
NM_004937.2:c.104A>T	NP_004928.2:p.Glu35Val
XM_005256485.1:c.104A>T	XP_005256542.1:p.Glu35Val
XM_006721463.1:c.104A>T	XP_006721526.1:p.Glu35Val
XM_006721464.1:c.-253A>T	XP_006721527.1:n.-253A>T
XM_011523691.1:c.104A>T	XP_011521993.1:p.Glu35Val
XM_011523692.1:c.-338A>T	XP_011521994.1:n.-338A>T
XR_934003.1:n.697A>T
XR_934164.1:n.431-2311T>A
XM_005256485.3:c.104A>T	XP_005256542.1:p.Glu35Val
XM_006721463.3:c.104A>T	XP_006721526.1:p.Glu35Val
XM_006721464.2:c.-253A>T	XP_006721527.1:n.-253A>T
XM_011523691.2:c.104A>T	XP_011521993.1:p.Glu35Val
XM_011523692.2:c.-338A>T	XP_011521994.1:n.-338A>T
XM_017024254.1:c.-217+7219A>T	XP_016879743.1:n.-217+7219A>T
XM_017024255.1:c.-253A>T	XP_016879744.1:n.-253A>T
XM_017024256.1:c.-338A>T	XP_016879745.1:n.-338A>T
XM_017024257.1:c.-217+7219A>T	XP_016879746.1:n.-217+7219A>T
XM_017024258.1:c.-253A>T	XP_016879747.1:n.-253A>T
XR_001752758.1:n.453-2311T>A
XR_001752759.1:n.325-2311T>A
XR_001752760.1:n.453-2311T>A
XR_001752761.2:n.452+2678T>A
XR_002958115.1:n.140-2311T>A
XR_934164.2:n.453-2311T>A
NM_001374492.1:c.104A>T	NP_001361421.1:p.Glu35Val
NM_001374493.1:c.-253A>T	NP_001361422.1:n.-253A>T
NM_001374494.1:c.-338A>T	NP_001361423.1:n.-338A>T
NM_001374495.1:c.-217+7219A>T	NP_001361424.1:n.-217+7219A>T
NM_001374496.1:c.-253A>T	NP_001361425.1:n.-253A>T
NM_004937.3:c.104A>T MANE Select	NP_004928.2:p.Glu35Val
NM_001031681.3:c.104A>T	NP_001026851.2:p.Glu35Val