Canonical Allele Identifier: CA16620398
Gene: CTNS HGNC NCBI

Linked Data

ClinVar Variation Id: 422148
ClinVar RCV Id: RCV000479734 RCV000675105
dbSNP Id: rs1064795587
gnomAD v2: 17-3563243-A-G
MyVariant Identifiers: chr17:g.3563243A>G (hg19) chr17:g.3659949A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3659949A>G , CM000679.2:g.3659949A>G GRCh38
NC_000017.10:g.3563243A>G , CM000679.1:g.3563243A>G GRCh37
NC_000017.9:g.3509992A>G NCBI36
NG_012489.1:g.28482A>G
NG_012489.2:g.28482A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000046640.9:c.944A>G MANE Select ENSP00000046640.4:p.Gln315Arg
ENST00000381870.8:c.944A>G ENSP00000371294.3:p.Gln315Arg
ENST00000488623.6:c.191A>G ENSP00000501016.1:p.Gln64Arg
ENST00000574776.6:c.503A>G ENSP00000461118.2:p.Gln168Arg
ENST00000673669.1:c.503A>G ENSP00000501123.1:p.Gln168Arg
ENST00000673965.1:c.944A>G ENSP00000500995.1:p.Gln315Arg
ENST00000046640.7:c.944A>G ENSP00000046640.3:p.Gln315Arg
ENST00000381870.7:c.944A>G ENSP00000371294.3:p.Gln315Arg
NM_001031681.2:c.944A>G NP_001026851.2:p.Gln315Arg
NM_004937.2:c.944A>G NP_004928.2:p.Gln315Arg
XM_005256485.1:c.944A>G XP_005256542.1:p.Gln315Arg
XM_006721463.1:c.944A>G XP_006721526.1:p.Gln315Arg
XM_006721464.1:c.503A>G XP_006721527.1:p.Gln168Arg
XM_011523691.1:c.944A>G XP_011521993.1:p.Gln315Arg
XM_011523692.1:c.503A>G XP_011521994.1:p.Gln168Arg
XR_934003.1:n.2870A>G
XM_005256485.3:c.944A>G XP_005256542.1:p.Gln315Arg
XM_006721463.3:c.944A>G XP_006721526.1:p.Gln315Arg
XM_006721464.2:c.503A>G XP_006721527.1:p.Gln168Arg
XM_011523691.2:c.944A>G XP_011521993.1:p.Gln315Arg
XM_011523692.2:c.503A>G XP_011521994.1:p.Gln168Arg
XM_017024254.1:c.503A>G XP_016879743.1:p.Gln168Arg
XM_017024255.1:c.503A>G XP_016879744.1:p.Gln168Arg
XM_017024256.1:c.503A>G XP_016879745.1:p.Gln168Arg
XM_017024257.1:c.503A>G XP_016879746.1:p.Gln168Arg
XM_017024258.1:c.503A>G XP_016879747.1:p.Gln168Arg
NM_001374492.1:c.944A>G NP_001361421.1:p.Gln315Arg
NM_001374493.1:c.503A>G NP_001361422.1:p.Gln168Arg
NM_001374494.1:c.503A>G NP_001361423.1:p.Gln168Arg
NM_001374495.1:c.503A>G NP_001361424.1:p.Gln168Arg
NM_001374496.1:c.503A>G NP_001361425.1:p.Gln168Arg
NM_004937.3:c.944A>G MANE Select NP_004928.2:p.Gln315Arg
NM_001031681.3:c.944A>G NP_001026851.2:p.Gln315Arg
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