Canonical Allele Identifier: CA30106874
Gene: CTSS HGNC NCBI

Linked Data

dbSNP Id: rs147260142
gnomAD v3: 1-150750110-A-G
gnomAD v4: 1-150750110-A-G
MyVariant Identifiers: chr1:g.150722586A>G (hg19) chr1:g.150750110A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150750110A>G , CM000663.2:g.150750110A>G GRCh38
NC_000001.10:g.150722586A>G , CM000663.1:g.150722586A>G GRCh37
NC_000001.9:g.148989210A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000368985.8:c.689T>C MANE Select ENSP00000357981.3:p.Leu230Pro
ENST00000448301.7:c.461T>C ENSP00000408414.2:p.Leu154Pro
ENST00000472977.7:c.689T>C ENSP00000475176.2:p.Leu230Pro
ENST00000483930.2:c.689T>C ENSP00000475812.2:p.Leu230Pro
ENST00000607427.2:c.689T>C ENSP00000475557.2:p.Leu230Pro
ENST00000679512.1:c.689T>C ENSP00000505113.1:p.Leu230Pro
ENST00000679898.1:c.416T>C ENSP00000505326.1:p.Leu139Pro
ENST00000680288.1:c.539T>C ENSP00000506001.1:p.Leu180Pro
ENST00000680311.1:c.627+1671T>C ENSP00000505020.1:n.627+1671T>C
ENST00000680471.1:c.627+1671T>C ENSP00000506603.1:n.627+1671T>C
ENST00000680664.1:c.512T>C ENSP00000506248.1:p.Leu171Pro
ENST00000680931.1:c.689T>C ENSP00000504934.1:p.Leu230Pro
ENST00000681444.1:c.689T>C ENSP00000505359.1:p.Leu230Pro
ENST00000681728.1:c.689T>C ENSP00000505313.1:p.Leu230Pro
ENST00000368985.7:c.689T>C ENSP00000357981.3:p.Leu230Pro
ENST00000448301.6:c.539T>C ENSP00000408414.1:p.Leu180Pro
ENST00000480760.1:n.566+1671T>C
ENST00000483930.1:c.116T>C ENSP00000475812.1:p.Leu39Pro
NM_001199739.1:c.539T>C NP_001186668.1:p.Leu180Pro
NM_004079.4:c.689T>C NP_004070.3:p.Leu230Pro
NM_004079.5:c.689T>C MANE Select NP_004070.3:p.Leu230Pro
NM_001199739.2:c.539T>C NP_001186668.1:p.Leu180Pro
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