Canonical Allele Identifier: CA286999659

Gene: CTNS

Linked Data

• dbSNP Id: rs867822900
• gnomAD v3: 17-3637245-C-T
• gnomAD v4: 17-3637245-C-T
• MyVariant Identifiers: chr17:g.3540539C>T (hg19) ; chr17:g.3637245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3637245C>T , CM000679.2:g.3637245C>T	GRCh38
NC_000017.10:g.3540539C>T , CM000679.1:g.3540539C>T	GRCh37
NC_000017.9:g.3487288C>T	NCBI36
NG_012489.1:g.5778C>T
NG_052852.1:g.4078G>A
NG_012489.2:g.5778C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.-91C>T MANE Select	ENSP00000046640.4:n.-91C>T
ENST00000381870.8:c.-91C>T	ENSP00000371294.3:n.-91C>T
ENST00000399306.7:c.-91C>T	ENSP00000382245.2:n.-91C>T
ENST00000488623.6:c.-738C>T	ENSP00000501016.1:n.-738C>T
ENST00000574776.6:c.-264C>T	ENSP00000461118.2:n.-264C>T
ENST00000673669.1:c.-367C>T	ENSP00000501123.1:n.-367C>T
ENST00000673965.1:c.-91C>T	ENSP00000500995.1:n.-91C>T
ENST00000046640.7:c.-91C>T	ENSP00000046640.3:n.-91C>T
ENST00000381870.7:c.-91C>T	ENSP00000371294.3:n.-91C>T
ENST00000399306.6:c.-91C>T	ENSP00000382245.2:n.-91C>T
ENST00000452111.5:c.-91C>T	ENSP00000408652.1:n.-91C>T
ENST00000467663.5:c.-91C>T	ENSP00000461056.1:n.-91C>T
ENST00000488623.5:n.211C>T
ENST00000495445.5:n.224C>T
ENST00000574218.1:c.-288C>T	ENSP00000458912.1:n.-288C>T
ENST00000574776.5:c.-264C>T	ENSP00000461118.1:n.-264C>T
NM_001031681.2:c.-91C>T	NP_001026851.2:n.-91C>T
NM_004937.2:c.-91C>T	NP_004928.2:n.-91C>T
XM_005256485.1:c.-91C>T	XP_005256542.1:n.-91C>T
XM_006721463.1:c.-91C>T	XP_006721526.1:n.-91C>T
XM_006721464.1:c.-447C>T	XP_006721527.1:n.-447C>T
XM_011523691.1:c.-91C>T	XP_011521993.1:n.-91C>T
XM_011523692.1:c.-452C>T	XP_011521994.1:n.-452C>T
XR_934003.1:n.503C>T
XM_005256485.3:c.-91C>T	XP_005256542.1:n.-91C>T
XM_006721463.3:c.-91C>T	XP_006721526.1:n.-91C>T
XM_006721464.2:c.-447C>T	XP_006721527.1:n.-447C>T
XM_011523691.2:c.-91C>T	XP_011521993.1:n.-91C>T
XM_011523692.2:c.-452C>T	XP_011521994.1:n.-452C>T
XM_017024254.1:c.-368C>T	XP_016879743.1:n.-368C>T
XM_017024255.1:c.-447C>T	XP_016879744.1:n.-447C>T
XM_017024256.1:c.-452C>T	XP_016879745.1:n.-452C>T
XM_017024257.1:c.-368C>T	XP_016879746.1:n.-368C>T
XM_017024258.1:c.-367C>T	XP_016879747.1:n.-367C>T
NM_001374492.1:c.-91C>T	NP_001361421.1:n.-91C>T
NM_001374493.1:c.-447C>T	NP_001361422.1:n.-447C>T
NM_001374494.1:c.-452C>T	NP_001361423.1:n.-452C>T
NM_001374495.1:c.-368C>T	NP_001361424.1:n.-368C>T
NM_001374496.1:c.-367C>T	NP_001361425.1:n.-367C>T
NM_004937.3:c.-91C>T MANE Select	NP_004928.2:n.-91C>T
NM_001031681.3:c.-91C>T	NP_001026851.2:n.-91C>T