Canonical Allele Identifier: CA889263911

Gene: CTSS

Linked Data

• dbSNP Id: rs1227195716
• gnomAD v3: 1-150733011-A-G
• gnomAD v4: 1-150733011-A-G
• MyVariant Identifiers: chr1:g.150705487A>G (hg19) ; chr1:g.150733011A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733011A>G , CM000663.2:g.150733011A>G	GRCh38
NC_000001.10:g.150705487A>G , CM000663.1:g.150705487A>G	GRCh37
NC_000001.9:g.148972111A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.*35T>C MANE Select	ENSP00000357981.3:n.*35T>C
ENST00000448301.7:c.*35T>C	ENSP00000408414.2:n.*35T>C
ENST00000472977.7:c.*35T>C	ENSP00000475176.2:n.*35T>C
ENST00000483930.2:c.*225T>C	ENSP00000475812.2:n.*225T>C
ENST00000607427.2:c.*35T>C	ENSP00000475557.2:n.*35T>C
ENST00000679512.1:c.928T>C	ENSP00000505113.1:p.Ter310Arg
ENST00000679898.1:c.*35T>C	ENSP00000505326.1:n.*35T>C
ENST00000680288.1:c.*35T>C	ENSP00000506001.1:n.*35T>C
ENST00000680311.1:c.*114T>C	ENSP00000505020.1:n.*114T>C
ENST00000680471.1:c.*202T>C	ENSP00000506603.1:n.*202T>C
ENST00000680664.1:c.*35T>C	ENSP00000506248.1:n.*35T>C
ENST00000680931.1:c.*381T>C	ENSP00000504934.1:n.*381T>C
ENST00000681357.1:n.421T>C
ENST00000681444.1:c.*35T>C	ENSP00000505359.1:n.*35T>C
ENST00000368985.7:c.*35T>C	ENSP00000357981.3:n.*35T>C
ENST00000448301.6:c.*35T>C	ENSP00000408414.1:n.*35T>C
ENST00000472977.6:c.324T>C
ENST00000483930.1:c.579T>C	ENSP00000475812.1:n.579T>C
ENST00000607427.1:c.52T>C
NM_001199739.1:c.*35T>C	NP_001186668.1:n.*35T>C
NM_004079.4:c.*35T>C	NP_004070.3:n.*35T>C
NM_004079.5:c.*35T>C MANE Select	NP_004070.3:n.*35T>C
NM_001199739.2:c.*35T>C	NP_001186668.1:n.*35T>C