Canonical Allele Identifier: CA10639462

Gene: CTNS

Linked Data

• ClinVar Variation Id: 322832
• ClinVar RCV Id: RCV000352972 ; RCV000405649
• dbSNP Id: rs780032861
• gnomAD v2: 17-3540623-T-C
• gnomAD v3: 17-3637329-T-C
• gnomAD v4: 17-3637329-T-C
• MyVariant Identifiers: chr17:g.3540623T>C (hg19) ; chr17:g.3637329T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3637329T>C , CM000679.2:g.3637329T>C	GRCh38
NC_000017.10:g.3540623T>C , CM000679.1:g.3540623T>C	GRCh37
NC_000017.9:g.3487372T>C	NCBI36
NG_012489.1:g.5862T>C
NG_052852.1:g.3994A>G
NG_012489.2:g.5862T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.-20+13T>C MANE Select	ENSP00000046640.4:n.-20+13T>C
ENST00000381870.8:c.-20+13T>C	ENSP00000371294.3:n.-20+13T>C
ENST00000399306.7:c.-20+13T>C	ENSP00000382245.2:n.-20+13T>C
ENST00000488623.6:c.-667+13T>C	ENSP00000501016.1:n.-667+13T>C
ENST00000574776.6:c.-193+13T>C	ENSP00000461118.2:n.-193+13T>C
ENST00000673669.1:c.-296+13T>C	ENSP00000501123.1:n.-296+13T>C
ENST00000673965.1:c.-20+13T>C	ENSP00000500995.1:n.-20+13T>C
ENST00000046640.7:c.-20+13T>C	ENSP00000046640.3:n.-20+13T>C
ENST00000381870.7:c.-20+13T>C	ENSP00000371294.3:n.-20+13T>C
ENST00000399306.6:c.-20+13T>C	ENSP00000382245.2:n.-20+13T>C
ENST00000452111.5:c.-20+13T>C	ENSP00000408652.1:n.-20+13T>C
ENST00000467663.5:c.-20+13T>C	ENSP00000461056.1:n.-20+13T>C
ENST00000488623.5:n.282+13T>C
ENST00000495445.5:n.295+13T>C
ENST00000574218.1:c.-217+13T>C	ENSP00000458912.1:n.-217+13T>C
ENST00000574776.5:c.-193+13T>C	ENSP00000461118.1:n.-193+13T>C
NM_001031681.2:c.-20+13T>C	NP_001026851.2:n.-20+13T>C
NM_004937.2:c.-20+13T>C	NP_004928.2:n.-20+13T>C
XM_005256485.1:c.-20+13T>C	XP_005256542.1:n.-20+13T>C
XM_006721463.1:c.-20+13T>C	XP_006721526.1:n.-20+13T>C
XM_006721464.1:c.-376+13T>C	XP_006721527.1:n.-376+13T>C
XM_011523691.1:c.-20+13T>C	XP_011521993.1:n.-20+13T>C
XM_011523692.1:c.-381+13T>C	XP_011521994.1:n.-381+13T>C
XR_934003.1:n.574+13T>C
XM_005256485.3:c.-20+13T>C	XP_005256542.1:n.-20+13T>C
XM_006721463.3:c.-20+13T>C	XP_006721526.1:n.-20+13T>C
XM_006721464.2:c.-376+13T>C	XP_006721527.1:n.-376+13T>C
XM_011523691.2:c.-20+13T>C	XP_011521993.1:n.-20+13T>C
XM_011523692.2:c.-381+13T>C	XP_011521994.1:n.-381+13T>C
XM_017024254.1:c.-297+13T>C	XP_016879743.1:n.-297+13T>C
XM_017024255.1:c.-376+13T>C	XP_016879744.1:n.-376+13T>C
XM_017024256.1:c.-381+13T>C	XP_016879745.1:n.-381+13T>C
XM_017024257.1:c.-297+13T>C	XP_016879746.1:n.-297+13T>C
XM_017024258.1:c.-296+13T>C	XP_016879747.1:n.-296+13T>C
NM_001374492.1:c.-20+13T>C	NP_001361421.1:n.-20+13T>C
NM_001374493.1:c.-376+13T>C	NP_001361422.1:n.-376+13T>C
NM_001374494.1:c.-381+13T>C	NP_001361423.1:n.-381+13T>C
NM_001374495.1:c.-297+13T>C	NP_001361424.1:n.-297+13T>C
NM_001374496.1:c.-296+13T>C	NP_001361425.1:n.-296+13T>C
NM_004937.3:c.-20+13T>C MANE Select	NP_004928.2:n.-20+13T>C
NM_001031681.3:c.-20+13T>C	NP_001026851.2:n.-20+13T>C