Canonical Allele Identifier: CA397693145

Gene: CTNS

Linked Data

• ClinVar Variation Id: 2012992
• ClinVar RCV Id: RCV002856373
• MyVariant Identifiers: chr17:g.3563210T>C (hg19) ; chr17:g.3659916T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3659916T>C , CM000679.2:g.3659916T>C	GRCh38
NC_000017.10:g.3563210T>C , CM000679.1:g.3563210T>C	GRCh37
NC_000017.9:g.3509959T>C	NCBI36
NG_012489.1:g.28449T>C
NG_012489.2:g.28449T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.911T>C MANE Select	ENSP00000046640.4:p.Leu304Pro
ENST00000381870.8:c.911T>C	ENSP00000371294.3:p.Leu304Pro
ENST00000488623.6:c.158T>C	ENSP00000501016.1:p.Leu53Pro
ENST00000574776.6:c.470T>C	ENSP00000461118.2:p.Leu157Pro
ENST00000673669.1:c.470T>C	ENSP00000501123.1:p.Leu157Pro
ENST00000673965.1:c.911T>C	ENSP00000500995.1:p.Leu304Pro
ENST00000046640.7:c.911T>C	ENSP00000046640.3:p.Leu304Pro
ENST00000381870.7:c.911T>C	ENSP00000371294.3:p.Leu304Pro
NM_001031681.2:c.911T>C	NP_001026851.2:p.Leu304Pro
NM_004937.2:c.911T>C	NP_004928.2:p.Leu304Pro
XM_005256485.1:c.911T>C	XP_005256542.1:p.Leu304Pro
XM_006721463.1:c.911T>C	XP_006721526.1:p.Leu304Pro
XM_006721464.1:c.470T>C	XP_006721527.1:p.Leu157Pro
XM_011523691.1:c.911T>C	XP_011521993.1:p.Leu304Pro
XM_011523692.1:c.470T>C	XP_011521994.1:p.Leu157Pro
XR_934003.1:n.2837T>C
XM_005256485.3:c.911T>C	XP_005256542.1:p.Leu304Pro
XM_006721463.3:c.911T>C	XP_006721526.1:p.Leu304Pro
XM_006721464.2:c.470T>C	XP_006721527.1:p.Leu157Pro
XM_011523691.2:c.911T>C	XP_011521993.1:p.Leu304Pro
XM_011523692.2:c.470T>C	XP_011521994.1:p.Leu157Pro
XM_017024254.1:c.470T>C	XP_016879743.1:p.Leu157Pro
XM_017024255.1:c.470T>C	XP_016879744.1:p.Leu157Pro
XM_017024256.1:c.470T>C	XP_016879745.1:p.Leu157Pro
XM_017024257.1:c.470T>C	XP_016879746.1:p.Leu157Pro
XM_017024258.1:c.470T>C	XP_016879747.1:p.Leu157Pro
NM_001374492.1:c.911T>C	NP_001361421.1:p.Leu304Pro
NM_001374493.1:c.470T>C	NP_001361422.1:p.Leu157Pro
NM_001374494.1:c.470T>C	NP_001361423.1:p.Leu157Pro
NM_001374495.1:c.470T>C	NP_001361424.1:p.Leu157Pro
NM_001374496.1:c.470T>C	NP_001361425.1:p.Leu157Pro
NM_004937.3:c.911T>C MANE Select	NP_004928.2:p.Leu304Pro
NM_001031681.3:c.911T>C	NP_001026851.2:p.Leu304Pro