LDH info

Canonical Allele Identifier: CA16612461
Gene: TSC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 411251
ClinVar RCV Id: RCV000456728
dbSNP Id: rs1060503210

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132906060del , CM000671.2:g.132906060del GRCh38
NC_000009.11:g.135781447del , CM000671.1:g.135781447del GRCh37
NC_000009.10:g.134771268del NCBI36
NG_012386.1:g.43572del , LRG_486:g.43572del

Transcript Alleles

HGVS Amino-acid change
NM_000368.4:c.1516del , LRG_486t1:c.1516del NP_000359.1:p.Tyr508ThrfsTer24
NM_001162426.1:c.1513del VV NP_001155898.1:p.Tyr507ThrfsTer24
NM_001162427.1:c.1363del VV NP_001155899.1:p.Tyr457ThrfsTer24
XM_005272211.1:c.1516del XP_005272268.1:p.Tyr508ThrfsTer24
XM_006717271.1:c.1516del XP_006717334.1:p.Tyr508ThrfsTer24
XM_006717272.2:c.1516del XP_006717335.1:p.Tyr508ThrfsTer24
XM_011518979.1:c.1516del XP_011517281.1:p.Tyr508ThrfsTer24
NM_001362177.1:c.1153del VV NP_001349106.1:p.Tyr387ThrfsTer24
XM_011518979.2:c.1516del XP_011517281.1:p.Tyr508ThrfsTer24
XM_017015096.1:c.1516del XP_016870585.1:p.Tyr508ThrfsTer24
XM_017015097.1:c.1516del XP_016870586.1:p.Tyr508ThrfsTer24
XM_017015098.1:c.1513del XP_016870587.1:p.Tyr507ThrfsTer24
XM_017015100.1:c.1153del XP_016870589.1:p.Tyr387ThrfsTer24
XM_017015101.1:c.1150del XP_016870590.1:p.Tyr386ThrfsTer24
NM_000368.5:c.1516del VV MANE Preferred NP_000359.1:p.Tyr508ThrfsTer24
NM_001162426.2:c.1513del VV NP_001155898.1:p.Tyr507ThrfsTer24
NM_001162427.2:c.1363del VV NP_001155899.1:p.Tyr457ThrfsTer24
NM_001362177.2:c.1153del VV NP_001349106.1:p.Tyr387ThrfsTer24
ENST00000298552.7:c.1516del ENSP00000298552.3:p.Tyr508ThrfsTer24
ENST00000440111.6:c.1516del ENSP00000394524.2:p.Tyr508ThrfsTer24
ENST00000545250.5:c.1363del ENSP00000444017.1:p.Tyr457ThrfsTer24