Canonical Allele Identifier: CA420696583
Gene: CTSS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.150705597T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733121T>C , CM000663.2:g.150733121T>C GRCh38
NC_000001.10:g.150705597T>C , CM000663.1:g.150705597T>C GRCh37
NC_000001.9:g.148972221T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.921A>G MANE Select ENSP00000357981.3:p.Glu307=
ENST00000448301.7:c.693A>G ENSP00000408414.2:p.Glu231=
ENST00000472977.7:c.921A>G ENSP00000475176.2:p.Glu307=
ENST00000483930.2:c.*115A>G ENSP00000475812.2:n.*115A>G
ENST00000607427.2:c.921A>G ENSP00000475557.2:p.Glu307=
ENST00000679512.1:c.818A>G ENSP00000505113.1:p.Lys273Arg
ENST00000679898.1:c.648A>G ENSP00000505326.1:p.Glu216=
ENST00000680288.1:c.771A>G ENSP00000506001.1:p.Glu257=
ENST00000680311.1:c.*4A>G ENSP00000505020.1:n.*4A>G
ENST00000680471.1:c.*92A>G ENSP00000506603.1:n.*92A>G
ENST00000680664.1:c.744A>G ENSP00000506248.1:p.Glu248=
ENST00000680931.1:c.*271A>G ENSP00000504934.1:n.*271A>G
ENST00000681357.1:n.311A>G
ENST00000681444.1:c.921A>G ENSP00000505359.1:p.Glu307=
ENST00000368985.7:c.921A>G ENSP00000357981.3:p.Glu307=
ENST00000448301.6:c.771A>G ENSP00000408414.1:p.Glu257=
ENST00000472977.6:c.214A>G
ENST00000483930.1:c.469A>G ENSP00000475812.1:n.469A>G
NM_001199739.1:c.771A>G NP_001186668.1:p.Glu257=
NM_004079.4:c.921A>G NP_004070.3:p.Glu307=
NM_004079.5:c.921A>G MANE Select NP_004070.3:p.Glu307=
NM_001199739.2:c.771A>G NP_001186668.1:p.Glu257=