Canonical Allele Identifier: CA30095088

Gene: CTSS

Linked Data

• dbSNP Id: rs201148660
• gnomAD v2: 1-150705606-A-G
• gnomAD v3: 1-150733130-A-G
• gnomAD v4: 1-150733130-A-G
• MyVariant Identifiers: chr1:g.150705606A>G (hg19) ; chr1:g.150733130A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733130A>G , CM000663.2:g.150733130A>G	GRCh38
NC_000001.10:g.150705606A>G , CM000663.1:g.150705606A>G	GRCh37
NC_000001.9:g.148972230A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.912T>C MANE Select	ENSP00000357981.3:p.Phe304=
ENST00000448301.7:c.684T>C	ENSP00000408414.2:p.Phe228=
ENST00000472977.7:c.912T>C	ENSP00000475176.2:p.Phe304=
ENST00000483930.2:c.*106T>C	ENSP00000475812.2:n.*106T>C
ENST00000607427.2:c.912T>C	ENSP00000475557.2:p.Phe304=
ENST00000679512.1:c.809T>C	ENSP00000505113.1:p.Leu270Ser
ENST00000679898.1:c.639T>C	ENSP00000505326.1:p.Phe213=
ENST00000680288.1:c.762T>C	ENSP00000506001.1:p.Phe254=
ENST00000680311.1:c.643T>C	ENSP00000505020.1:p.Trp215Arg
ENST00000680471.1:c.*83T>C	ENSP00000506603.1:n.*83T>C
ENST00000680664.1:c.735T>C	ENSP00000506248.1:p.Phe245=
ENST00000680931.1:c.*262T>C	ENSP00000504934.1:n.*262T>C
ENST00000681357.1:n.302T>C
ENST00000681444.1:c.912T>C	ENSP00000505359.1:p.Phe304=
ENST00000368985.7:c.912T>C	ENSP00000357981.3:p.Phe304=
ENST00000448301.6:c.762T>C	ENSP00000408414.1:p.Phe254=
ENST00000472977.6:c.205T>C
ENST00000483930.1:c.460T>C	ENSP00000475812.1:n.460T>C
NM_001199739.1:c.762T>C	NP_001186668.1:p.Phe254=
NM_004079.4:c.912T>C	NP_004070.3:p.Phe304=
NM_004079.5:c.912T>C MANE Select	NP_004070.3:p.Phe304=
NM_001199739.2:c.762T>C	NP_001186668.1:p.Phe254=