LDH info

Canonical Allele Identifier: CA007706
Gene: TSC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5105
dbSNP Id: rs118203396

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132921943A>G , CM000671.2:g.132921943A>G GRCh38
NC_000009.11:g.135797330A>G , CM000671.1:g.135797330A>G GRCh37
NC_000009.10:g.134787151A>G NCBI36
NG_012386.1:g.27691T>C , LRG_486:g.27691T>C

Transcript Alleles

HGVS Amino-acid change
NM_000368.4:c.539T>C , LRG_486t1:c.539T>C NP_000359.1:p.Leu180Pro
NM_001162426.1:c.539T>C VV NP_001155898.1:p.Leu180Pro
NM_001162427.1:c.386T>C VV NP_001155899.1:p.Leu129Pro
XM_005272211.1:c.539T>C XP_005272268.1:p.Leu180Pro
XM_006717271.1:c.539T>C XP_006717334.1:p.Leu180Pro
XM_006717272.2:c.539T>C XP_006717335.1:p.Leu180Pro
XM_011518979.1:c.539T>C XP_011517281.1:p.Leu180Pro
NM_001362177.1:c.176T>C VV NP_001349106.1:p.Leu59Pro
XM_011518979.2:c.539T>C XP_011517281.1:p.Leu180Pro
XM_017015096.1:c.539T>C XP_016870585.1:p.Leu180Pro
XM_017015097.1:c.539T>C XP_016870586.1:p.Leu180Pro
XM_017015098.1:c.539T>C XP_016870587.1:p.Leu180Pro
XM_017015100.1:c.176T>C XP_016870589.1:p.Leu59Pro
XM_017015101.1:c.176T>C XP_016870590.1:p.Leu59Pro
NM_000368.5:c.539T>C VV MANE Preferred NP_000359.1:p.Leu180Pro
NM_001162426.2:c.539T>C VV NP_001155898.1:p.Leu180Pro
NM_001162427.2:c.386T>C VV NP_001155899.1:p.Leu129Pro
NM_001362177.2:c.176T>C VV NP_001349106.1:p.Leu59Pro
ENST00000298552.7:c.539T>C ENSP00000298552.3:p.Leu180Pro
ENST00000403810.5:c.539T>C ENSP00000386093.1:p.Leu180Pro
ENST00000440111.6:c.539T>C ENSP00000394524.2:p.Leu180Pro
ENST00000461879.5:n.368T>C
ENST00000475903.5:n.696T>C
ENST00000493467.5:n.735T>C
ENST00000545250.5:c.386T>C ENSP00000444017.1:p.Leu129Pro