Canonical Allele Identifier: CA397688235

Gene: CTNS

Linked Data

• MyVariant Identifiers: chr17:g.3552215T>A (hg19) ; chr17:g.3648921T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3648921T>A , CM000679.2:g.3648921T>A	GRCh38
NC_000017.10:g.3552215T>A , CM000679.1:g.3552215T>A	GRCh37
NC_000017.9:g.3498964T>A	NCBI36
NG_012489.1:g.17454T>A
NG_012489.2:g.17454T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.215T>A MANE Select	ENSP00000046640.4:p.Leu72His
ENST00000381870.8:c.215T>A	ENSP00000371294.3:p.Leu72His
ENST00000399306.7:c.215T>A	ENSP00000382245.2:p.Leu72His
ENST00000488623.6:c.-513T>A	ENSP00000501016.1:n.-513T>A
ENST00000574776.6:c.-112-6300T>A	ENSP00000461118.2:n.-112-6300T>A
ENST00000673669.1:c.-217+1399T>A	ENSP00000501123.1:n.-217+1399T>A
ENST00000673965.1:c.215T>A	ENSP00000500995.1:p.Leu72His
ENST00000046640.7:c.215T>A	ENSP00000046640.3:p.Leu72His
ENST00000381870.7:c.215T>A	ENSP00000371294.3:p.Leu72His
ENST00000399306.6:c.215T>A	ENSP00000382245.2:p.Leu72His
ENST00000452111.5:c.215T>A	ENSP00000408652.1:p.Leu72His
ENST00000467663.5:c.140+1399T>A	ENSP00000461056.1:n.140+1399T>A
ENST00000488623.5:n.436T>A
ENST00000574218.1:c.-216-6077T>A	ENSP00000458912.1:n.-216-6077T>A
ENST00000574776.5:c.-112-6300T>A	ENSP00000461118.1:n.-112-6300T>A
ENST00000576979.1:c.215T>A	ENSP00000458457.1:p.Leu72His
NM_001031681.2:c.215T>A	NP_001026851.2:p.Leu72His
NM_004937.2:c.215T>A	NP_004928.2:p.Leu72His
XM_005256485.1:c.215T>A	XP_005256542.1:p.Leu72His
XM_006721463.1:c.215T>A	XP_006721526.1:p.Leu72His
XM_006721464.1:c.-217+1399T>A	XP_006721527.1:n.-217+1399T>A
XM_011523691.1:c.215T>A	XP_011521993.1:p.Leu72His
XM_011523692.1:c.-227T>A	XP_011521994.1:n.-227T>A
XR_934003.1:n.808T>A
XR_934164.1:n.430+1243A>T
XM_005256485.3:c.215T>A	XP_005256542.1:p.Leu72His
XM_006721463.3:c.215T>A	XP_006721526.1:p.Leu72His
XM_006721464.2:c.-217+1399T>A	XP_006721527.1:n.-217+1399T>A
XM_011523691.2:c.215T>A	XP_011521993.1:p.Leu72His
XM_011523692.2:c.-227T>A	XP_011521994.1:n.-227T>A
XM_017024254.1:c.-216-6077T>A	XP_016879743.1:n.-216-6077T>A
XM_017024255.1:c.-217+1399T>A	XP_016879744.1:n.-217+1399T>A
XM_017024256.1:c.-227T>A	XP_016879745.1:n.-227T>A
XM_017024257.1:c.-216-6077T>A	XP_016879746.1:n.-216-6077T>A
XM_017024258.1:c.-217+1399T>A	XP_016879747.1:n.-217+1399T>A
XR_001752758.1:n.452+1243A>T
XR_001752759.1:n.324+1243A>T
XR_001752760.1:n.452+1243A>T
XR_001752761.2:n.452+1243A>T
XR_002958115.1:n.139+1243A>T
XR_934164.2:n.452+1243A>T
NM_001374492.1:c.215T>A	NP_001361421.1:p.Leu72His
NM_001374493.1:c.-217+1399T>A	NP_001361422.1:n.-217+1399T>A
NM_001374494.1:c.-227T>A	NP_001361423.1:n.-227T>A
NM_001374495.1:c.-216-6077T>A	NP_001361424.1:n.-216-6077T>A
NM_001374496.1:c.-217+1399T>A	NP_001361425.1:n.-217+1399T>A
NM_004937.3:c.215T>A MANE Select	NP_004928.2:p.Leu72His
NM_001031681.3:c.215T>A	NP_001026851.2:p.Leu72His