Canonical Allele Identifier: CA4633200
Gene: CTSB HGNC NCBI
COSMIC:
COSM3763011 (not active)
MyVariant.info:
GRCh38 chr8:g.11853379G>C
GRCh37 chr8:g.11710888G>C
Revel Score:
ENST00000434271 0.330
ENST00000353047 (MANE Select) 0.330
ENST00000530640 0.330
ENST00000531089 0.330
ENST00000453527 0.330
ENST00000415599 0.330
ENST00000345125 0.330
ENST00000533455 0.330
ENST00000534510 0.330
ENST00000534636 0.330
ENST00000533572 0.330
ENST00000530296 0.330
ENST00000526195 0.330
ENST00000527243 0.330
ENST00000534149 0.330
ENST00000526645 0.330
ENST00000530573 0.330
ENST00000505496 0.330
ENST00000524500 0.330
ENST00000531502 0.330
ENST00000527215 0.330
ENST00000532656 0.330
ENST00000534382 0.330
ENST00000528965 0.330
ENST00000524654 0.330
gnomAD v2:
8:11710888 G / C
gnomAD v3:
8:11853379 G / C
gnomAD v4:
chr8-11853379-G-C
Joint Max Group AF 0.49578028 (EAS)
Genomes Max Group AF 0.48843201 (EAS)
Exomes Max Group AF 0.49500122 (EAS)
ClinVar RCV:
RCV001518415
RCV003983943
ClinVar Variation:
1168281
dbSNP:
12338
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11853379G>C , CM000670.2:g.11853379G>C GRCh38
NC_000008.10:g.11710888G>C , CM000670.1:g.11710888G>C GRCh37
NC_000008.9:g.11748297G>C NCBI36
NG_009217.1:g.19759C>G
NG_009217.2:g.19759C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000528965.3:c.76C>G ENSP00000433929.2:p.Leu26Val
ENST00000532392.3:c.76C>G ENSP00000432408.2:p.Leu26Val
ENST00000534636.7:n.215C>G
ENST00000345125.8:c.76C>G ENSP00000342070.3:p.Leu26Val
ENST00000353047.11:c.76C>G MANE Select ENSP00000345672.5:p.Leu26Val
ENST00000453527.7:c.76C>G ENSP00000409917.3:p.Leu26Val
ENST00000505496.7:c.76C>G ENSP00000435650.2:p.Leu26Val
ENST00000524500.6:c.76C>G ENSP00000436074.2:p.Leu26Val
ENST00000524654.2:c.76C>G ENSP00000432077.2:p.Leu26Val
ENST00000525076.6:n.144C>G
ENST00000526195.6:c.76C>G ENSP00000436627.2:p.Leu26Val
ENST00000526481.7:c.76C>G ENSP00000473301.2:p.Leu26Val
ENST00000526645.6:c.76C>G ENSP00000431518.2:p.Leu26Val
ENST00000527215.7:c.76C>G ENSP00000433379.3:p.Leu26Val
ENST00000527243.6:c.76C>G ENSP00000434725.2:p.Leu26Val
ENST00000528965.2:c.76C>G ENSP00000433929.2:p.Leu26Val
ENST00000530296.6:c.76C>G ENSP00000435074.2:p.Leu26Val
ENST00000530640.7:c.76C>G ENSP00000435105.1:p.Leu26Val
ENST00000531089.6:c.76C>G ENSP00000433215.1:p.Leu26Val
ENST00000531502.6:c.76C>G ENSP00000435886.2:p.Leu26Val
ENST00000532392.2:c.76C>G ENSP00000432408.2:p.Leu26Val
ENST00000532656.7:c.76C>G ENSP00000431143.2:p.Leu26Val
ENST00000533455.6:c.76C>G ENSP00000432244.1:p.Leu26Val
ENST00000533572.6:c.76C>G ENSP00000433995.2:p.Leu26Val
ENST00000534149.6:c.76C>G ENSP00000436122.2:p.Leu26Val
ENST00000534382.6:c.76C>G ENSP00000435260.2:p.Leu26Val
ENST00000534510.6:c.76C>G ENSP00000434217.1:p.Leu26Val
ENST00000534636.6:c.76C>G ENSP00000436159.2:p.Leu26Val
ENST00000676502.1:c.76C>G ENSP00000503902.1:p.Leu26Val
ENST00000676691.1:c.76C>G ENSP00000503608.1:p.Leu26Val
ENST00000676755.1:c.76C>G ENSP00000504226.1:p.Leu26Val
ENST00000676825.1:c.76C>G ENSP00000503006.1:p.Leu26Val
ENST00000676843.1:c.76C>G ENSP00000504659.1:p.Leu26Val
ENST00000676952.1:c.76C>G ENSP00000503909.1:p.Leu26Val
ENST00000677047.1:c.76C>G ENSP00000504127.1:p.Leu26Val
ENST00000677082.1:c.76C>G ENSP00000503652.1:p.Leu26Val
ENST00000677283.1:c.76C>G ENSP00000503222.1:p.Leu26Val
ENST00000677366.1:c.76C>G ENSP00000504161.1:p.Leu26Val
ENST00000677415.1:c.76C>G ENSP00000502963.1:p.Leu26Val
ENST00000677418.1:c.76C>G ENSP00000503174.1:p.Leu26Val
ENST00000677544.1:c.76C>G ENSP00000503078.1:p.Leu26Val
ENST00000677650.1:c.76C>G ENSP00000504797.1:p.Leu26Val
ENST00000677671.1:c.76C>G ENSP00000503578.1:p.Leu26Val
ENST00000677819.1:c.76C>G ENSP00000503435.1:p.Leu26Val
ENST00000677865.1:c.76C>G ENSP00000502946.1:p.Leu26Val
ENST00000677873.1:c.76C>G ENSP00000503052.1:p.Leu26Val
ENST00000678067.1:c.76C>G ENSP00000503330.1:p.Leu26Val
ENST00000678092.1:c.76C>G ENSP00000504638.1:p.Leu26Val
ENST00000678145.1:c.76C>G ENSP00000503674.1:p.Leu26Val
ENST00000678242.1:c.76C>G ENSP00000503280.1:p.Leu26Val
ENST00000678357.1:c.76C>G ENSP00000503513.1:p.Leu26Val
ENST00000678598.1:c.76C>G ENSP00000503734.1:p.Leu26Val
ENST00000678615.1:c.76C>G ENSP00000504336.1:p.Leu26Val
ENST00000678629.1:c.-4-2399C>G ENSP00000504808.1:n.-4-2399C>G
ENST00000678929.1:c.76C>G ENSP00000503487.1:p.Leu26Val
ENST00000679051.1:c.76C>G ENSP00000503858.1:p.Leu26Val
ENST00000679121.1:c.76C>G ENSP00000504223.1:p.Leu26Val
ENST00000679128.1:c.76C>G ENSP00000504480.1:p.Leu26Val
ENST00000679140.1:c.76C>G ENSP00000503300.1:p.Leu26Val
ENST00000679214.1:c.76C>G ENSP00000503892.1:p.Leu26Val
ENST00000345125.7:c.76C>G ENSP00000342070.3:p.Leu26Val
ENST00000353047.10:c.76C>G ENSP00000345672.5:p.Leu26Val
ENST00000453527.6:c.76C>G ENSP00000409917.2:p.Leu26Val
ENST00000505496.6:c.76C>G ENSP00000435650.1:p.Leu26Val
ENST00000524500.5:c.76C>G ENSP00000436074.1:p.Leu26Val
ENST00000524654.1:c.76C>G ENSP00000432077.1:p.Leu26Val
ENST00000525076.5:n.159C>G
ENST00000525315.5:n.84C>G
ENST00000526195.5:c.76C>G ENSP00000436627.1:p.Leu26Val
ENST00000526645.5:c.76C>G ENSP00000431518.1:p.Leu26Val
ENST00000527215.6:c.76C>G ENSP00000433379.2:p.Leu26Val
ENST00000527243.5:c.76C>G ENSP00000434725.1:p.Leu26Val
ENST00000528965.1:c.76C>G ENSP00000433929.1:p.Leu26Val
ENST00000530296.5:c.76C>G ENSP00000435074.1:p.Leu26Val
ENST00000530640.6:c.76C>G ENSP00000435105.1:p.Leu26Val
ENST00000531089.5:c.76C>G ENSP00000433215.1:p.Leu26Val
ENST00000531502.5:c.76C>G ENSP00000435886.1:p.Leu26Val
ENST00000531551.5:c.76C>G ENSP00000436456.1:p.Leu26Val
ENST00000532370.1:n.441C>G
ENST00000532656.6:c.76C>G ENSP00000431143.1:p.Leu26Val
ENST00000533455.5:c.76C>G ENSP00000432244.1:p.Leu26Val
ENST00000533572.5:c.76C>G ENSP00000433995.1:p.Leu26Val
ENST00000534149.5:c.76C>G ENSP00000436122.1:p.Leu26Val
ENST00000534382.5:c.76C>G ENSP00000435260.1:p.Leu26Val
ENST00000534510.5:c.76C>G ENSP00000434217.1:p.Leu26Val
ENST00000534636.5:c.76C>G ENSP00000436159.1:p.Leu26Val
NM_001908.3:c.76C>G NP_001899.1:p.Leu26Val
NM_147780.2:c.76C>G NP_680090.1:p.Leu26Val
NM_147781.2:c.76C>G NP_680091.1:p.Leu26Val
NM_147782.2:c.76C>G NP_680092.1:p.Leu26Val
NM_147783.2:c.76C>G NP_680093.1:p.Leu26Val
XM_006716244.1:c.76C>G XP_006716307.1:p.Leu26Val
XM_006716245.1:c.76C>G XP_006716308.1:p.Leu26Val
XM_011543812.1:c.76C>G XP_011542114.1:p.Leu26Val
NM_001317237.1:c.-178C>G NP_001304166.1:n.-178C>G
NM_001908.4:c.76C>G NP_001899.1:p.Leu26Val
NM_147780.3:c.76C>G NP_680090.1:p.Leu26Val
NM_147781.3:c.76C>G NP_680091.1:p.Leu26Val
NM_147782.3:c.76C>G NP_680092.1:p.Leu26Val
NM_147783.3:c.76C>G NP_680093.1:p.Leu26Val
XM_006716244.3:c.76C>G XP_006716307.1:p.Leu26Val
XM_006716245.3:c.76C>G XP_006716308.1:p.Leu26Val
XM_011543812.3:c.76C>G XP_011542114.1:p.Leu26Val
XM_017013097.2:c.76C>G XP_016868586.1:p.Leu26Val
XM_017013099.2:c.76C>G XP_016868588.1:p.Leu26Val
XM_017013100.2:c.76C>G XP_016868589.1:p.Leu26Val
XM_017013101.2:c.30C>G XP_016868590.1:p.Pro10=
XM_024447071.1:c.76C>G XP_024302839.1:p.Leu26Val
NM_001908.5:c.76C>G MANE Select NP_001899.1:p.Leu26Val
NM_001317237.2:c.-178C>G NP_001304166.1:n.-178C>G
NM_147780.4:c.76C>G NP_680090.1:p.Leu26Val
NM_147781.4:c.76C>G NP_680091.1:p.Leu26Val
NM_147782.4:c.76C>G NP_680092.1:p.Leu26Val
NM_147783.4:c.76C>G NP_680093.1:p.Leu26Val
NM_001384714.1:c.76C>G NP_001371643.1:p.Leu26Val
NM_001384723.1:c.76C>G NP_001371652.1:p.Leu26Val
NM_001384724.1:c.76C>G NP_001371653.1:p.Leu26Val
NM_001384725.1:c.76C>G NP_001371654.1:p.Leu26Val
NM_001384726.1:c.76C>G NP_001371655.1:p.Leu26Val
NM_001384727.1:c.76C>G NP_001371656.1:p.Leu26Val
NM_001384728.1:c.76C>G NP_001371657.1:p.Leu26Val
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