Canonical Allele Identifier: CA1080153

Gene: CTSS

Linked Data

• dbSNP Id: rs748206909
• ExAC: 1:150705504 A / G
• gnomAD v3: 1-150733028-A-G
• gnomAD v4: 1-150733028-A-G
• MyVariant Identifiers: chr1:g.150705504A>G (hg19) ; chr1:g.150733028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733028A>G , CM000663.2:g.150733028A>G	GRCh38
NC_000001.10:g.150705504A>G , CM000663.1:g.150705504A>G	GRCh37
NC_000001.9:g.148972128A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000368985.8:c.*18T>C MANE Select	ENSP00000357981.3:n.*18T>C
ENST00000448301.7:c.*18T>C	ENSP00000408414.2:n.*18T>C
ENST00000472977.7:c.*18T>C	ENSP00000475176.2:n.*18T>C
ENST00000483930.2:c.*208T>C	ENSP00000475812.2:n.*208T>C
ENST00000607427.2:c.*18T>C	ENSP00000475557.2:n.*18T>C
ENST00000679512.1:c.911T>C	ENSP00000505113.1:p.Ile304Thr
ENST00000679898.1:c.*18T>C	ENSP00000505326.1:n.*18T>C
ENST00000680288.1:c.*18T>C	ENSP00000506001.1:n.*18T>C
ENST00000680311.1:c.*97T>C	ENSP00000505020.1:n.*97T>C
ENST00000680471.1:c.*185T>C	ENSP00000506603.1:n.*185T>C
ENST00000680664.1:c.*18T>C	ENSP00000506248.1:n.*18T>C
ENST00000680931.1:c.*364T>C	ENSP00000504934.1:n.*364T>C
ENST00000681357.1:n.404T>C
ENST00000681444.1:c.*18T>C	ENSP00000505359.1:n.*18T>C
ENST00000368985.7:c.*18T>C	ENSP00000357981.3:n.*18T>C
ENST00000448301.6:c.*18T>C	ENSP00000408414.1:n.*18T>C
ENST00000472977.6:c.307T>C
ENST00000483930.1:c.562T>C	ENSP00000475812.1:n.562T>C
ENST00000607427.1:c.35T>C
NM_001199739.1:c.*18T>C	NP_001186668.1:n.*18T>C
NM_004079.4:c.*18T>C	NP_004070.3:n.*18T>C
NM_004079.5:c.*18T>C MANE Select	NP_004070.3:n.*18T>C
NM_001199739.2:c.*18T>C	NP_001186668.1:n.*18T>C