Canonical Allele Identifier: CA8291967

Gene: CTNS

Linked Data

• ClinVar Variation Id: 322844
• ClinVar RCV Id: RCV000310091 ; RCV000392314 ; RCV000693664 ; RCV001274186 ; RCV002510860 ; RCV002522944
• dbSNP Id: rs140326392
• ExAC: 17:3563269 G / A
• gnomAD v2: 17-3563269-G-A
• gnomAD v3: 17-3659975-G-A
• gnomAD v4: 17-3659975-G-A
• MyVariant Identifiers: chr17:g.3563269G>A (hg19) ; chr17:g.3659975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3659975G>A , CM000679.2:g.3659975G>A	GRCh38
NC_000017.10:g.3563269G>A , CM000679.1:g.3563269G>A	GRCh37
NC_000017.9:g.3510018G>A	NCBI36
NG_012489.1:g.28508G>A
NG_012489.2:g.28508G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.970G>A MANE Select	ENSP00000046640.4:p.Asp324Asn
ENST00000381870.8:c.970G>A	ENSP00000371294.3:p.Asp324Asn
ENST00000488623.6:c.217G>A	ENSP00000501016.1:p.Asp73Asn
ENST00000574776.6:c.529G>A	ENSP00000461118.2:p.Asp177Asn
ENST00000673669.1:c.529G>A	ENSP00000501123.1:p.Asp177Asn
ENST00000673965.1:c.970G>A	ENSP00000500995.1:p.Asp324Asn
ENST00000046640.7:c.970G>A	ENSP00000046640.3:p.Asp324Asn
ENST00000381870.7:c.970G>A	ENSP00000371294.3:p.Asp324Asn
NM_001031681.2:c.970G>A	NP_001026851.2:p.Asp324Asn
NM_004937.2:c.970G>A	NP_004928.2:p.Asp324Asn
XM_005256485.1:c.970G>A	XP_005256542.1:p.Asp324Asn
XM_006721463.1:c.970G>A	XP_006721526.1:p.Asp324Asn
XM_006721464.1:c.529G>A	XP_006721527.1:p.Asp177Asn
XM_011523691.1:c.970G>A	XP_011521993.1:p.Asp324Asn
XM_011523692.1:c.529G>A	XP_011521994.1:p.Asp177Asn
XM_005256485.3:c.970G>A	XP_005256542.1:p.Asp324Asn
XM_006721463.3:c.970G>A	XP_006721526.1:p.Asp324Asn
XM_006721464.2:c.529G>A	XP_006721527.1:p.Asp177Asn
XM_011523691.2:c.970G>A	XP_011521993.1:p.Asp324Asn
XM_011523692.2:c.529G>A	XP_011521994.1:p.Asp177Asn
XM_017024254.1:c.529G>A	XP_016879743.1:p.Asp177Asn
XM_017024255.1:c.529G>A	XP_016879744.1:p.Asp177Asn
XM_017024256.1:c.529G>A	XP_016879745.1:p.Asp177Asn
XM_017024257.1:c.529G>A	XP_016879746.1:p.Asp177Asn
XM_017024258.1:c.529G>A	XP_016879747.1:p.Asp177Asn
NM_001374492.1:c.970G>A	NP_001361421.1:p.Asp324Asn
NM_001374493.1:c.529G>A	NP_001361422.1:p.Asp177Asn
NM_001374494.1:c.529G>A	NP_001361423.1:p.Asp177Asn
NM_001374495.1:c.529G>A	NP_001361424.1:p.Asp177Asn
NM_001374496.1:c.529G>A	NP_001361425.1:p.Asp177Asn
NM_004937.3:c.970G>A MANE Select	NP_004928.2:p.Asp324Asn
NM_001031681.3:c.970G>A	NP_001026851.2:p.Asp324Asn