Canonical Allele Identifier: CA30094941

Gene: CTSS

Linked Data

• dbSNP Id: rs954350953
• gnomAD v2: 1-150705496-G-C
• gnomAD v3: 1-150733020-G-C
• gnomAD v4: 1-150733020-G-C
• MyVariant Identifiers: chr1:g.150705496G>C (hg19) ; chr1:g.150733020G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733020G>C , CM000663.2:g.150733020G>C	GRCh38
NC_000001.10:g.150705496G>C , CM000663.1:g.150705496G>C	GRCh37
NC_000001.9:g.148972120G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.*26C>G MANE Select	ENSP00000357981.3:n.*26C>G
ENST00000448301.7:c.*26C>G	ENSP00000408414.2:n.*26C>G
ENST00000472977.7:c.*26C>G	ENSP00000475176.2:n.*26C>G
ENST00000483930.2:c.*216C>G	ENSP00000475812.2:n.*216C>G
ENST00000607427.2:c.*26C>G	ENSP00000475557.2:n.*26C>G
ENST00000679512.1:c.919C>G	ENSP00000505113.1:p.Gln307Glu
ENST00000679898.1:c.*26C>G	ENSP00000505326.1:n.*26C>G
ENST00000680288.1:c.*26C>G	ENSP00000506001.1:n.*26C>G
ENST00000680311.1:c.*105C>G	ENSP00000505020.1:n.*105C>G
ENST00000680471.1:c.*193C>G	ENSP00000506603.1:n.*193C>G
ENST00000680664.1:c.*26C>G	ENSP00000506248.1:n.*26C>G
ENST00000680931.1:c.*372C>G	ENSP00000504934.1:n.*372C>G
ENST00000681357.1:n.412C>G
ENST00000681444.1:c.*26C>G	ENSP00000505359.1:n.*26C>G
ENST00000368985.7:c.*26C>G	ENSP00000357981.3:n.*26C>G
ENST00000448301.6:c.*26C>G	ENSP00000408414.1:n.*26C>G
ENST00000472977.6:c.315C>G
ENST00000483930.1:c.570C>G	ENSP00000475812.1:n.570C>G
ENST00000607427.1:c.43C>G
NM_001199739.1:c.*26C>G	NP_001186668.1:n.*26C>G
NM_004079.4:c.*26C>G	NP_004070.3:n.*26C>G
NM_004079.5:c.*26C>G MANE Select	NP_004070.3:n.*26C>G
NM_001199739.2:c.*26C>G	NP_001186668.1:n.*26C>G