Canonical Allele Identifier: CA420696577
Gene: CTSS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.150705588A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733112A>G , CM000663.2:g.150733112A>G GRCh38
NC_000001.10:g.150705588A>G , CM000663.1:g.150705588A>G GRCh37
NC_000001.9:g.148972212A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.930T>C MANE Select ENSP00000357981.3:p.Ile310=
ENST00000448301.7:c.702T>C ENSP00000408414.2:p.Ile234=
ENST00000472977.7:c.930T>C ENSP00000475176.2:p.Ile310=
ENST00000483930.2:c.*124T>C ENSP00000475812.2:n.*124T>C
ENST00000607427.2:c.930T>C ENSP00000475557.2:p.Ile310=
ENST00000679512.1:c.827T>C ENSP00000505113.1:p.Phe276Ser
ENST00000679898.1:c.657T>C ENSP00000505326.1:p.Ile219=
ENST00000680288.1:c.780T>C ENSP00000506001.1:p.Ile260=
ENST00000680311.1:c.*13T>C ENSP00000505020.1:n.*13T>C
ENST00000680471.1:c.*101T>C ENSP00000506603.1:n.*101T>C
ENST00000680664.1:c.753T>C ENSP00000506248.1:p.Ile251=
ENST00000680931.1:c.*280T>C ENSP00000504934.1:n.*280T>C
ENST00000681357.1:n.320T>C
ENST00000681444.1:c.930T>C ENSP00000505359.1:p.Ile310=
ENST00000368985.7:c.930T>C ENSP00000357981.3:p.Ile310=
ENST00000448301.6:c.780T>C ENSP00000408414.1:p.Ile260=
ENST00000472977.6:c.223T>C
ENST00000483930.1:c.478T>C ENSP00000475812.1:n.478T>C
NM_001199739.1:c.780T>C NP_001186668.1:p.Ile260=
NM_004079.4:c.930T>C NP_004070.3:p.Ile310=
NM_004079.5:c.930T>C MANE Select NP_004070.3:p.Ile310=
NM_001199739.2:c.780T>C NP_001186668.1:p.Ile260=