Canonical Allele Identifier: CA1080163

Gene: CTSS

Linked Data

• dbSNP Id: rs765093272
• ExAC: 1:150705609 G / A
• gnomAD v2: 1-150705609-G-A
• gnomAD v4: 1-150733133-G-A
• MyVariant Identifiers: chr1:g.150705609G>A (hg19) ; chr1:g.150733133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733133G>A , CM000663.2:g.150733133G>A	GRCh38
NC_000001.10:g.150705609G>A , CM000663.1:g.150705609G>A	GRCh37
NC_000001.9:g.148972233G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.909C>T MANE Select	ENSP00000357981.3:p.Asn303=
ENST00000448301.7:c.681C>T	ENSP00000408414.2:p.Asn227=
ENST00000472977.7:c.909C>T	ENSP00000475176.2:p.Asn303=
ENST00000483930.2:c.*103C>T	ENSP00000475812.2:n.*103C>T
ENST00000607427.2:c.909C>T	ENSP00000475557.2:p.Asn303=
ENST00000679512.1:c.806C>T	ENSP00000505113.1:p.Thr269Ile
ENST00000679898.1:c.636C>T	ENSP00000505326.1:p.Asn212=
ENST00000680288.1:c.759C>T	ENSP00000506001.1:p.Asn253=
ENST00000680311.1:c.640C>T	ENSP00000505020.1:p.Leu214Phe
ENST00000680471.1:c.*80C>T	ENSP00000506603.1:n.*80C>T
ENST00000680664.1:c.732C>T	ENSP00000506248.1:p.Asn244=
ENST00000680931.1:c.*259C>T	ENSP00000504934.1:n.*259C>T
ENST00000681357.1:n.299C>T
ENST00000681444.1:c.909C>T	ENSP00000505359.1:p.Asn303=
ENST00000368985.7:c.909C>T	ENSP00000357981.3:p.Asn303=
ENST00000448301.6:c.759C>T	ENSP00000408414.1:p.Asn253=
ENST00000472977.6:c.202C>T
ENST00000483930.1:c.457C>T	ENSP00000475812.1:n.457C>T
NM_001199739.1:c.759C>T	NP_001186668.1:p.Asn253=
NM_004079.4:c.909C>T	NP_004070.3:p.Asn303=
NM_004079.5:c.909C>T MANE Select	NP_004070.3:p.Asn303=
NM_001199739.2:c.759C>T	NP_001186668.1:p.Asn253=