Canonical Allele Identifier: CA342322393

Gene: CTSS

Linked Data

• dbSNP Id: rs1652558267
• gnomAD v4: 1-150733093-C-T
• MyVariant Identifiers: chr1:g.150705569C>T (hg19) ; chr1:g.150733093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733093C>T , CM000663.2:g.150733093C>T	GRCh38
NC_000001.10:g.150705569C>T , CM000663.1:g.150705569C>T	GRCh37
NC_000001.9:g.148972193C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.949G>A MANE Select	ENSP00000357981.3:p.Gly317Arg
ENST00000448301.7:c.721G>A	ENSP00000408414.2:p.Gly241Arg
ENST00000472977.7:c.949G>A	ENSP00000475176.2:p.Gly317Arg
ENST00000483930.2:c.*143G>A	ENSP00000475812.2:n.*143G>A
ENST00000607427.2:c.949G>A	ENSP00000475557.2:p.Gly317Arg
ENST00000679512.1:c.846G>A	ENSP00000505113.1:p.Lys282=
ENST00000679898.1:c.676G>A	ENSP00000505326.1:p.Gly226Arg
ENST00000680288.1:c.799G>A	ENSP00000506001.1:p.Gly267Arg
ENST00000680311.1:c.*32G>A	ENSP00000505020.1:n.*32G>A
ENST00000680471.1:c.*120G>A	ENSP00000506603.1:n.*120G>A
ENST00000680664.1:c.772G>A	ENSP00000506248.1:p.Gly258Arg
ENST00000680931.1:c.*299G>A	ENSP00000504934.1:n.*299G>A
ENST00000681357.1:n.339G>A
ENST00000681444.1:c.949G>A	ENSP00000505359.1:p.Gly317Arg
ENST00000368985.7:c.949G>A	ENSP00000357981.3:p.Gly317Arg
ENST00000448301.6:c.799G>A	ENSP00000408414.1:p.Gly267Arg
ENST00000472977.6:c.242G>A
ENST00000483930.1:c.497G>A	ENSP00000475812.1:n.497G>A
NM_001199739.1:c.799G>A	NP_001186668.1:p.Gly267Arg
NM_004079.4:c.949G>A	NP_004070.3:p.Gly317Arg
NM_004079.5:c.949G>A MANE Select	NP_004070.3:p.Gly317Arg
NM_001199739.2:c.799G>A	NP_001186668.1:p.Gly267Arg