Canonical Allele Identifier: CA286999210

Gene: CTNS

Linked Data

• dbSNP Id: rs887711612
• gnomAD v2: 17-3539895-C-T
• gnomAD v3: 17-3636601-C-T
• gnomAD v4: 17-3636601-C-T
• MyVariant Identifiers: chr17:g.3539895C>T (hg19) ; chr17:g.3636601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636601C>T , CM000679.2:g.3636601C>T	GRCh38
NC_000017.10:g.3539895C>T , CM000679.1:g.3539895C>T	GRCh37
NC_000017.9:g.3486644C>T	NCBI36
NG_012489.1:g.5134C>T
NG_052852.1:g.4722G>A
NG_012489.2:g.5134C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381870.8:c.-337C>T	ENSP00000371294.3:n.-337C>T
ENST00000673965.1:c.-332C>T	ENSP00000500995.1:n.-332C>T
ENST00000046640.7:c.-460C>T	ENSP00000046640.3:n.-460C>T
ENST00000381870.7:c.-337C>T	ENSP00000371294.3:n.-337C>T
NM_001031681.2:c.-337C>T	NP_001026851.2:n.-337C>T
NM_004937.2:c.-460C>T	NP_004928.2:n.-460C>T
XM_005256485.1:c.-460C>T	XP_005256542.1:n.-460C>T
XM_006721463.1:c.-332C>T	XP_006721526.1:n.-332C>T
XM_006721464.1:c.-816C>T	XP_006721527.1:n.-816C>T
XM_011523692.1:c.-821C>T	XP_011521994.1:n.-821C>T
XR_934003.1:n.134C>T
XM_005256485.3:c.-460C>T	XP_005256542.1:n.-460C>T
XM_006721463.3:c.-332C>T	XP_006721526.1:n.-332C>T
XM_006721464.2:c.-816C>T	XP_006721527.1:n.-816C>T
XM_011523692.2:c.-821C>T	XP_011521994.1:n.-821C>T
XM_017024254.1:c.-737C>T	XP_016879743.1:n.-737C>T
XM_017024255.1:c.-816C>T	XP_016879744.1:n.-816C>T
XM_017024256.1:c.-821C>T	XP_016879745.1:n.-821C>T
XM_017024257.1:c.-737C>T	XP_016879746.1:n.-737C>T
XM_017024258.1:c.-736C>T	XP_016879747.1:n.-736C>T
NM_001031681.3:c.-337C>T	NP_001026851.2:n.-337C>T