Canonical Allele Identifier: CA342322488

Gene: CTSS

Linked Data

• dbSNP Id: rs750373604
• gnomAD v2: 1-150705610-T-C
• gnomAD v3: 1-150733134-T-C
• gnomAD v4: 1-150733134-T-C
• MyVariant Identifiers: chr1:g.150705610T>C (hg19) ; chr1:g.150733134T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733134T>C , CM000663.2:g.150733134T>C	GRCh38
NC_000001.10:g.150705610T>C , CM000663.1:g.150705610T>C	GRCh37
NC_000001.9:g.148972234T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.908A>G MANE Select	ENSP00000357981.3:p.Asn303Ser
ENST00000448301.7:c.680A>G	ENSP00000408414.2:p.Asn227Ser
ENST00000472977.7:c.908A>G	ENSP00000475176.2:p.Asn303Ser
ENST00000483930.2:c.*102A>G	ENSP00000475812.2:n.*102A>G
ENST00000607427.2:c.908A>G	ENSP00000475557.2:p.Asn303Ser
ENST00000679512.1:c.805A>G	ENSP00000505113.1:p.Thr269Ala
ENST00000679898.1:c.635A>G	ENSP00000505326.1:p.Asn212Ser
ENST00000680288.1:c.758A>G	ENSP00000506001.1:p.Asn253Ser
ENST00000680311.1:c.639A>G	ENSP00000505020.1:p.Gln213=
ENST00000680471.1:c.*79A>G	ENSP00000506603.1:n.*79A>G
ENST00000680664.1:c.731A>G	ENSP00000506248.1:p.Asn244Ser
ENST00000680931.1:c.*258A>G	ENSP00000504934.1:n.*258A>G
ENST00000681357.1:n.298A>G
ENST00000681444.1:c.908A>G	ENSP00000505359.1:p.Asn303Ser
ENST00000368985.7:c.908A>G	ENSP00000357981.3:p.Asn303Ser
ENST00000448301.6:c.758A>G	ENSP00000408414.1:p.Asn253Ser
ENST00000472977.6:c.201A>G
ENST00000483930.1:c.456A>G	ENSP00000475812.1:n.456A>G
NM_001199739.1:c.758A>G	NP_001186668.1:p.Asn253Ser
NM_004079.4:c.908A>G	NP_004070.3:p.Asn303Ser
NM_004079.5:c.908A>G MANE Select	NP_004070.3:p.Asn303Ser
NM_001199739.2:c.758A>G	NP_001186668.1:p.Asn253Ser