Canonical Allele Identifier: CA420696574
Gene: CTSS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.150705585C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733109C>G , CM000663.2:g.150733109C>G GRCh38
NC_000001.10:g.150705585C>G , CM000663.1:g.150705585C>G GRCh37
NC_000001.9:g.148972209C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.933G>C MANE Select ENSP00000357981.3:p.Arg311=
ENST00000448301.7:c.705G>C ENSP00000408414.2:p.Arg235=
ENST00000472977.7:c.933G>C ENSP00000475176.2:p.Arg311=
ENST00000483930.2:c.*127G>C ENSP00000475812.2:n.*127G>C
ENST00000607427.2:c.933G>C ENSP00000475557.2:p.Arg311=
ENST00000679512.1:c.830G>C ENSP00000505113.1:p.Gly277Ala
ENST00000679898.1:c.660G>C ENSP00000505326.1:p.Arg220=
ENST00000680288.1:c.783G>C ENSP00000506001.1:p.Arg261=
ENST00000680311.1:c.*16G>C ENSP00000505020.1:n.*16G>C
ENST00000680471.1:c.*104G>C ENSP00000506603.1:n.*104G>C
ENST00000680664.1:c.756G>C ENSP00000506248.1:p.Arg252=
ENST00000680931.1:c.*283G>C ENSP00000504934.1:n.*283G>C
ENST00000681357.1:n.323G>C
ENST00000681444.1:c.933G>C ENSP00000505359.1:p.Arg311=
ENST00000368985.7:c.933G>C ENSP00000357981.3:p.Arg311=
ENST00000448301.6:c.783G>C ENSP00000408414.1:p.Arg261=
ENST00000472977.6:c.226G>C
ENST00000483930.1:c.481G>C ENSP00000475812.1:n.481G>C
NM_001199739.1:c.783G>C NP_001186668.1:p.Arg261=
NM_004079.4:c.933G>C NP_004070.3:p.Arg311=
NM_004079.5:c.933G>C MANE Select NP_004070.3:p.Arg311=
NM_001199739.2:c.783G>C NP_001186668.1:p.Arg261=