Canonical Allele Identifier: CA4657283
Gene: LZTS1 HGNC NCBI
COSMIC:
COSM3763241 (not active)
MyVariant.info:
GRCh38 chr8:g.20250090G>C
GRCh37 chr8:g.20107601G>C
Revel Score:
ENST00000381569 (MANE Select) 0.036
ENST00000265801 0.036
ENST00000360248 0.036
gnomAD v2:
8:20107601 G / C
gnomAD v3:
8:20250090 G / C
gnomAD v4:
chr8-20250090-G-C
Joint Max Group AF 0.10821646 (AFR)
Genomes Max Group AF 0.10381103 (AFR)
Exomes Max Group AF 0.11185889 (AFR)
ClinVar RCV:
RCV001656006
ClinVar Variation:
1244413
dbSNP:
723874
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20250090G>C , CM000670.2:g.20250090G>C GRCh38
NC_000008.10:g.20107601G>C , CM000670.1:g.20107601G>C GRCh37
NC_000008.9:g.20151881G>C NCBI36
NG_015834.2:g.10203C>G
NG_015834.3:g.58892C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265801.6:c.1423C>G ENSP00000265801.6:p.Leu475Val
ENST00000381569.5:c.1423C>G MANE Select ENSP00000370981.1:p.Leu475Val
ENST00000522290.5:c.1401+22C>G ENSP00000429263.1:n.1401+22C>G
ENST00000616228.1:c.158-122C>G ENSP00000479534.1:n.158-122C>G
NM_021020.3:c.1423C>G NP_066300.1:p.Leu475Val
XM_005273394.3:c.1423C>G XP_005273451.1:p.Leu475Val
XM_011544383.1:c.1423C>G XP_011542685.1:p.Leu475Val
XM_011544384.1:c.1423C>G XP_011542686.1:p.Leu475Val
XM_011544385.1:c.1423C>G XP_011542687.1:p.Leu475Val
XM_011544386.1:c.1423C>G XP_011542688.1:p.Leu475Val
XM_011544387.1:c.1423C>G XP_011542689.1:p.Leu475Val
NM_001362884.1:c.1423C>G NP_001349813.1:p.Leu475Val
NM_021020.4:c.1423C>G NP_066300.1:p.Leu475Val
XM_011544384.2:c.1423C>G XP_011542686.1:p.Leu475Val
XM_011544385.2:c.1423C>G XP_011542687.1:p.Leu475Val
XM_011544386.2:c.1423C>G XP_011542688.1:p.Leu475Val
NM_021020.5:c.1423C>G MANE Select NP_066300.1:p.Leu475Val
NM_001362884.2:c.1423C>G NP_001349813.1:p.Leu475Val
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