Canonical Allele Identifier: CA420696542
Gene: CTSS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.150705528T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733052T>C , CM000663.2:g.150733052T>C GRCh38
NC_000001.10:g.150705528T>C , CM000663.1:g.150705528T>C GRCh37
NC_000001.9:g.148972152T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000368985.8:c.990A>G MANE Select ENSP00000357981.3:p.Glu330=
ENST00000448301.7:c.762A>G ENSP00000408414.2:p.Glu254=
ENST00000472977.7:c.990A>G ENSP00000475176.2:p.Glu330=
ENST00000483930.2:c.*184A>G ENSP00000475812.2:n.*184A>G
ENST00000607427.2:c.990A>G ENSP00000475557.2:p.Glu330=
ENST00000679512.1:c.887A>G ENSP00000505113.1:p.Lys296Arg
ENST00000679898.1:c.717A>G ENSP00000505326.1:p.Glu239=
ENST00000680288.1:c.840A>G ENSP00000506001.1:p.Glu280=
ENST00000680311.1:c.*73A>G ENSP00000505020.1:n.*73A>G
ENST00000680471.1:c.*161A>G ENSP00000506603.1:n.*161A>G
ENST00000680664.1:c.813A>G ENSP00000506248.1:p.Glu271=
ENST00000680931.1:c.*340A>G ENSP00000504934.1:n.*340A>G
ENST00000681357.1:n.380A>G
ENST00000681444.1:c.990A>G ENSP00000505359.1:p.Glu330=
ENST00000368985.7:c.990A>G ENSP00000357981.3:p.Glu330=
ENST00000448301.6:c.840A>G ENSP00000408414.1:p.Glu280=
ENST00000472977.6:c.283A>G
ENST00000483930.1:c.538A>G ENSP00000475812.1:n.538A>G
ENST00000607427.1:c.11A>G
NM_001199739.1:c.840A>G NP_001186668.1:p.Glu280=
NM_004079.4:c.990A>G NP_004070.3:p.Glu330=
NM_004079.5:c.990A>G MANE Select NP_004070.3:p.Glu330=
NM_001199739.2:c.840A>G NP_001186668.1:p.Glu280=