Canonical Allele Identifier: CA342322461

Gene: CTSS

Linked Data

• COSMIC: COSM4853436
• MyVariant Identifiers: chr1:g.150705599C>G (hg19) ; chr1:g.150733123C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733123C>G , CM000663.2:g.150733123C>G	GRCh38
NC_000001.10:g.150705599C>G , CM000663.1:g.150705599C>G	GRCh37
NC_000001.9:g.148972223C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.919G>C MANE Select	ENSP00000357981.3:p.Glu307Gln
ENST00000448301.7:c.691G>C	ENSP00000408414.2:p.Glu231Gln
ENST00000472977.7:c.919G>C	ENSP00000475176.2:p.Glu307Gln
ENST00000483930.2:c.*113G>C	ENSP00000475812.2:n.*113G>C
ENST00000607427.2:c.919G>C	ENSP00000475557.2:p.Glu307Gln
ENST00000679512.1:c.816G>C	ENSP00000505113.1:p.Lys272Asn
ENST00000679898.1:c.646G>C	ENSP00000505326.1:p.Glu216Gln
ENST00000680288.1:c.769G>C	ENSP00000506001.1:p.Glu257Gln
ENST00000680311.1:c.*2G>C	ENSP00000505020.1:n.*2G>C
ENST00000680471.1:c.*90G>C	ENSP00000506603.1:n.*90G>C
ENST00000680664.1:c.742G>C	ENSP00000506248.1:p.Glu248Gln
ENST00000680931.1:c.*269G>C	ENSP00000504934.1:n.*269G>C
ENST00000681357.1:n.309G>C
ENST00000681444.1:c.919G>C	ENSP00000505359.1:p.Glu307Gln
ENST00000368985.7:c.919G>C	ENSP00000357981.3:p.Glu307Gln
ENST00000448301.6:c.769G>C	ENSP00000408414.1:p.Glu257Gln
ENST00000472977.6:c.212G>C
ENST00000483930.1:c.467G>C	ENSP00000475812.1:n.467G>C
NM_001199739.1:c.769G>C	NP_001186668.1:p.Glu257Gln
NM_004079.4:c.919G>C	NP_004070.3:p.Glu307Gln
NM_004079.5:c.919G>C MANE Select	NP_004070.3:p.Glu307Gln
NM_001199739.2:c.769G>C	NP_001186668.1:p.Glu257Gln