Canonical Allele Identifier: CA1080165

Gene: CTSS

Linked Data

• dbSNP Id: rs758250547
• ExAC: 1:150705617 C / T
• gnomAD v2: 1-150705617-C-T
• gnomAD v4: 1-150733141-C-T
• MyVariant Identifiers: chr1:g.150705617C>T (hg19) ; chr1:g.150733141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733141C>T , CM000663.2:g.150733141C>T	GRCh38
NC_000001.10:g.150705617C>T , CM000663.1:g.150705617C>T	GRCh37
NC_000001.9:g.148972241C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.901G>A MANE Select	ENSP00000357981.3:p.Gly301Ser
ENST00000448301.7:c.673G>A	ENSP00000408414.2:p.Gly225Ser
ENST00000472977.7:c.901G>A	ENSP00000475176.2:p.Gly301Ser
ENST00000483930.2:c.*95G>A	ENSP00000475812.2:n.*95G>A
ENST00000607427.2:c.901G>A	ENSP00000475557.2:p.Gly301Ser
ENST00000679512.1:c.798G>A	ENSP00000505113.1:p.Gly266=
ENST00000679898.1:c.628G>A	ENSP00000505326.1:p.Gly210Ser
ENST00000680288.1:c.751G>A	ENSP00000506001.1:p.Gly251Ser
ENST00000680311.1:c.632G>A	ENSP00000505020.1:p.Gly211Glu
ENST00000680471.1:c.*72G>A	ENSP00000506603.1:n.*72G>A
ENST00000680664.1:c.724G>A	ENSP00000506248.1:p.Gly242Ser
ENST00000680931.1:c.*251G>A	ENSP00000504934.1:n.*251G>A
ENST00000681357.1:n.291G>A
ENST00000681444.1:c.901G>A	ENSP00000505359.1:p.Gly301Ser
ENST00000368985.7:c.901G>A	ENSP00000357981.3:p.Gly301Ser
ENST00000448301.6:c.751G>A	ENSP00000408414.1:p.Gly251Ser
ENST00000472977.6:c.194G>A
ENST00000483930.1:c.449G>A	ENSP00000475812.1:n.449G>A
NM_001199739.1:c.751G>A	NP_001186668.1:p.Gly251Ser
NM_004079.4:c.901G>A	NP_004070.3:p.Gly301Ser
NM_004079.5:c.901G>A MANE Select	NP_004070.3:p.Gly301Ser
NM_001199739.2:c.751G>A	NP_001186668.1:p.Gly251Ser