Canonical Allele Identifier: CA342322423

Gene: CTSS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.936G>T MANE Select	ENSP00000357981.3:p.Met312Ile
ENST00000448301.7:c.708G>T	ENSP00000408414.2:p.Met236Ile
ENST00000472977.7:c.936G>T	ENSP00000475176.2:p.Met312Ile
ENST00000483930.2:c.*130G>T	ENSP00000475812.2:n.*130G>T
ENST00000607427.2:c.936G>T	ENSP00000475557.2:p.Met312Ile
ENST00000679512.1:c.833G>T	ENSP00000505113.1:p.Trp278Leu
ENST00000679898.1:c.663G>T	ENSP00000505326.1:p.Met221Ile
ENST00000680288.1:c.786G>T	ENSP00000506001.1:p.Met262Ile
ENST00000680311.1:c.*19G>T	ENSP00000505020.1:n.*19G>T
ENST00000680471.1:c.*107G>T	ENSP00000506603.1:n.*107G>T
ENST00000680664.1:c.759G>T	ENSP00000506248.1:p.Met253Ile
ENST00000680931.1:c.*286G>T	ENSP00000504934.1:n.*286G>T
ENST00000681357.1:n.326G>T
ENST00000681444.1:c.936G>T	ENSP00000505359.1:p.Met312Ile
ENST00000368985.7:c.936G>T	ENSP00000357981.3:p.Met312Ile
ENST00000448301.6:c.786G>T	ENSP00000408414.1:p.Met262Ile
ENST00000472977.6:c.229G>T
ENST00000483930.1:c.484G>T	ENSP00000475812.1:n.484G>T
NM_001199739.1:c.786G>T	NP_001186668.1:p.Met262Ile
NM_004079.4:c.936G>T	NP_004070.3:p.Met312Ile
NM_004079.5:c.936G>T MANE Select	NP_004070.3:p.Met312Ile
NM_001199739.2:c.786G>T	NP_001186668.1:p.Met262Ile