Canonical Allele Identifier: CA8291868
Gene: CTNS HGNC NCBI

Linked Data

ClinVar Variation Id: 2146761
dbSNP Id: rs374075160
gnomAD v2: 17-3561332-G-A
gnomAD v3: 17-3658038-G-A
gnomAD v4: 17-3658038-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3658038G>A , CM000679.2:g.3658038G>A GRCh38
NC_000017.10:g.3561332G>A , CM000679.1:g.3561332G>A GRCh37
NC_000017.9:g.3508081G>A NCBI36
NG_012489.1:g.26571G>A
NG_012489.2:g.26571G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000046640.9:c.715G>A MANE Select ENSP00000046640.4:p.Gly239Ser
ENST00000381870.8:c.715G>A ENSP00000371294.3:p.Gly239Ser
ENST00000488623.6:c.-39G>A ENSP00000501016.1:n.-39G>A
ENST00000574776.6:c.274G>A ENSP00000461118.2:p.Gly92Ser
ENST00000673669.1:c.274G>A ENSP00000501123.1:p.Gly92Ser
ENST00000673965.1:c.715G>A ENSP00000500995.1:p.Gly239Ser
ENST00000046640.7:c.715G>A ENSP00000046640.3:p.Gly239Ser
ENST00000381870.7:c.715G>A ENSP00000371294.3:p.Gly239Ser
NM_001031681.2:c.715G>A NP_001026851.2:p.Gly239Ser
NM_004937.2:c.715G>A NP_004928.2:p.Gly239Ser
XM_005256485.1:c.715G>A XP_005256542.1:p.Gly239Ser
XM_006721463.1:c.715G>A XP_006721526.1:p.Gly239Ser
XM_006721464.1:c.274G>A XP_006721527.1:p.Gly92Ser
XM_011523691.1:c.715G>A XP_011521993.1:p.Gly239Ser
XM_011523692.1:c.274G>A XP_011521994.1:p.Gly92Ser
XR_934003.1:n.1308G>A
XM_005256485.3:c.715G>A XP_005256542.1:p.Gly239Ser
XM_006721463.3:c.715G>A XP_006721526.1:p.Gly239Ser
XM_006721464.2:c.274G>A XP_006721527.1:p.Gly92Ser
XM_011523691.2:c.715G>A XP_011521993.1:p.Gly239Ser
XM_011523692.2:c.274G>A XP_011521994.1:p.Gly92Ser
XM_017024254.1:c.274G>A XP_016879743.1:p.Gly92Ser
XM_017024255.1:c.274G>A XP_016879744.1:p.Gly92Ser
XM_017024256.1:c.274G>A XP_016879745.1:p.Gly92Ser
XM_017024257.1:c.274G>A XP_016879746.1:p.Gly92Ser
XM_017024258.1:c.274G>A XP_016879747.1:p.Gly92Ser
NM_001374492.1:c.715G>A NP_001361421.1:p.Gly239Ser
NM_001374493.1:c.274G>A NP_001361422.1:p.Gly92Ser
NM_001374494.1:c.274G>A NP_001361423.1:p.Gly92Ser
NM_001374495.1:c.274G>A NP_001361424.1:p.Gly92Ser
NM_001374496.1:c.274G>A NP_001361425.1:p.Gly92Ser
NM_004937.3:c.715G>A MANE Select NP_004928.2:p.Gly239Ser
NM_001031681.3:c.715G>A NP_001026851.2:p.Gly239Ser