Canonical Allele Identifier: CA342322401
Gene: CTSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733096T>G , CM000663.2:g.150733096T>G GRCh38
NC_000001.10:g.150705572T>G , CM000663.1:g.150705572T>G GRCh37
NC_000001.9:g.148972196T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.946A>C MANE Select ENSP00000357981.3:p.Lys316Gln
ENST00000448301.7:c.718A>C ENSP00000408414.2:p.Lys240Gln
ENST00000472977.7:c.946A>C ENSP00000475176.2:p.Lys316Gln
ENST00000483930.2:c.*140A>C ENSP00000475812.2:n.*140A>C
ENST00000607427.2:c.946A>C ENSP00000475557.2:p.Lys316Gln
ENST00000679512.1:c.843A>C ENSP00000505113.1:p.Ile281=
ENST00000679898.1:c.673A>C ENSP00000505326.1:p.Lys225Gln
ENST00000680288.1:c.796A>C ENSP00000506001.1:p.Lys266Gln
ENST00000680311.1:c.*29A>C ENSP00000505020.1:n.*29A>C
ENST00000680471.1:c.*117A>C ENSP00000506603.1:n.*117A>C
ENST00000680664.1:c.769A>C ENSP00000506248.1:p.Lys257Gln
ENST00000680931.1:c.*296A>C ENSP00000504934.1:n.*296A>C
ENST00000681357.1:n.336A>C
ENST00000681444.1:c.946A>C ENSP00000505359.1:p.Lys316Gln
ENST00000368985.7:c.946A>C ENSP00000357981.3:p.Lys316Gln
ENST00000448301.6:c.796A>C ENSP00000408414.1:p.Lys266Gln
ENST00000472977.6:c.239A>C
ENST00000483930.1:c.494A>C ENSP00000475812.1:n.494A>C
NM_001199739.1:c.796A>C NP_001186668.1:p.Lys266Gln
NM_004079.4:c.946A>C NP_004070.3:p.Lys316Gln
NM_004079.5:c.946A>C MANE Select NP_004070.3:p.Lys316Gln
NM_001199739.2:c.796A>C NP_001186668.1:p.Lys266Gln