Canonical Allele Identifier: CA342322425

Gene: CTSS

Linked Data

• gnomAD v4: 1-150733106-C-T
• MyVariant Identifiers: chr1:g.150705582C>T (hg19) ; chr1:g.150733106C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733106C>T , CM000663.2:g.150733106C>T	GRCh38
NC_000001.10:g.150705582C>T , CM000663.1:g.150705582C>T	GRCh37
NC_000001.9:g.148972206C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.936G>A MANE Select	ENSP00000357981.3:p.Met312Ile
ENST00000448301.7:c.708G>A	ENSP00000408414.2:p.Met236Ile
ENST00000472977.7:c.936G>A	ENSP00000475176.2:p.Met312Ile
ENST00000483930.2:c.*130G>A	ENSP00000475812.2:n.*130G>A
ENST00000607427.2:c.936G>A	ENSP00000475557.2:p.Met312Ile
ENST00000679512.1:c.833G>A	ENSP00000505113.1:p.Trp278Ter
ENST00000679898.1:c.663G>A	ENSP00000505326.1:p.Met221Ile
ENST00000680288.1:c.786G>A	ENSP00000506001.1:p.Met262Ile
ENST00000680311.1:c.*19G>A	ENSP00000505020.1:n.*19G>A
ENST00000680471.1:c.*107G>A	ENSP00000506603.1:n.*107G>A
ENST00000680664.1:c.759G>A	ENSP00000506248.1:p.Met253Ile
ENST00000680931.1:c.*286G>A	ENSP00000504934.1:n.*286G>A
ENST00000681357.1:n.326G>A
ENST00000681444.1:c.936G>A	ENSP00000505359.1:p.Met312Ile
ENST00000368985.7:c.936G>A	ENSP00000357981.3:p.Met312Ile
ENST00000448301.6:c.786G>A	ENSP00000408414.1:p.Met262Ile
ENST00000472977.6:c.229G>A
ENST00000483930.1:c.484G>A	ENSP00000475812.1:n.484G>A
NM_001199739.1:c.786G>A	NP_001186668.1:p.Met262Ile
NM_004079.4:c.936G>A	NP_004070.3:p.Met312Ile
NM_004079.5:c.936G>A MANE Select	NP_004070.3:p.Met312Ile
NM_001199739.2:c.786G>A	NP_001186668.1:p.Met262Ile