Canonical Allele Identifier: CA342322432

Gene: CTSS

Linked Data

• gnomAD v4: 1-150733110-C-A
• MyVariant Identifiers: chr1:g.150705586C>A (hg19) ; chr1:g.150733110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733110C>A , CM000663.2:g.150733110C>A	GRCh38
NC_000001.10:g.150705586C>A , CM000663.1:g.150705586C>A	GRCh37
NC_000001.9:g.148972210C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.932G>T MANE Select	ENSP00000357981.3:p.Arg311Leu
ENST00000448301.7:c.704G>T	ENSP00000408414.2:p.Arg235Leu
ENST00000472977.7:c.932G>T	ENSP00000475176.2:p.Arg311Leu
ENST00000483930.2:c.*126G>T	ENSP00000475812.2:n.*126G>T
ENST00000607427.2:c.932G>T	ENSP00000475557.2:p.Arg311Leu
ENST00000679512.1:c.829G>T	ENSP00000505113.1:p.Gly277Ter
ENST00000679898.1:c.659G>T	ENSP00000505326.1:p.Arg220Leu
ENST00000680288.1:c.782G>T	ENSP00000506001.1:p.Arg261Leu
ENST00000680311.1:c.*15G>T	ENSP00000505020.1:n.*15G>T
ENST00000680471.1:c.*103G>T	ENSP00000506603.1:n.*103G>T
ENST00000680664.1:c.755G>T	ENSP00000506248.1:p.Arg252Leu
ENST00000680931.1:c.*282G>T	ENSP00000504934.1:n.*282G>T
ENST00000681357.1:n.322G>T
ENST00000681444.1:c.932G>T	ENSP00000505359.1:p.Arg311Leu
ENST00000368985.7:c.932G>T	ENSP00000357981.3:p.Arg311Leu
ENST00000448301.6:c.782G>T	ENSP00000408414.1:p.Arg261Leu
ENST00000472977.6:c.225G>T
ENST00000483930.1:c.480G>T	ENSP00000475812.1:n.480G>T
NM_001199739.1:c.782G>T	NP_001186668.1:p.Arg261Leu
NM_004079.4:c.932G>T	NP_004070.3:p.Arg311Leu
NM_004079.5:c.932G>T MANE Select	NP_004070.3:p.Arg311Leu
NM_001199739.2:c.782G>T	NP_001186668.1:p.Arg261Leu