Canonical Allele Identifier: CA342322437

Gene: CTSS

Linked Data

• gnomAD v4: 1-150733113-A-G
• MyVariant Identifiers: chr1:g.150705589A>G (hg19) ; chr1:g.150733113A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733113A>G , CM000663.2:g.150733113A>G	GRCh38
NC_000001.10:g.150705589A>G , CM000663.1:g.150705589A>G	GRCh37
NC_000001.9:g.148972213A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.929T>C MANE Select	ENSP00000357981.3:p.Ile310Thr
ENST00000448301.7:c.701T>C	ENSP00000408414.2:p.Ile234Thr
ENST00000472977.7:c.929T>C	ENSP00000475176.2:p.Ile310Thr
ENST00000483930.2:c.*123T>C	ENSP00000475812.2:n.*123T>C
ENST00000607427.2:c.929T>C	ENSP00000475557.2:p.Ile310Thr
ENST00000679512.1:c.826T>C	ENSP00000505113.1:p.Phe276Leu
ENST00000679898.1:c.656T>C	ENSP00000505326.1:p.Ile219Thr
ENST00000680288.1:c.779T>C	ENSP00000506001.1:p.Ile260Thr
ENST00000680311.1:c.*12T>C	ENSP00000505020.1:n.*12T>C
ENST00000680471.1:c.*100T>C	ENSP00000506603.1:n.*100T>C
ENST00000680664.1:c.752T>C	ENSP00000506248.1:p.Ile251Thr
ENST00000680931.1:c.*279T>C	ENSP00000504934.1:n.*279T>C
ENST00000681357.1:n.319T>C
ENST00000681444.1:c.929T>C	ENSP00000505359.1:p.Ile310Thr
ENST00000368985.7:c.929T>C	ENSP00000357981.3:p.Ile310Thr
ENST00000448301.6:c.779T>C	ENSP00000408414.1:p.Ile260Thr
ENST00000472977.6:c.222T>C
ENST00000483930.1:c.477T>C	ENSP00000475812.1:n.477T>C
NM_001199739.1:c.779T>C	NP_001186668.1:p.Ile260Thr
NM_004079.4:c.929T>C	NP_004070.3:p.Ile310Thr
NM_004079.5:c.929T>C MANE Select	NP_004070.3:p.Ile310Thr
NM_001199739.2:c.779T>C	NP_001186668.1:p.Ile260Thr