LDH info

Canonical Allele Identifier: CA033432
Gene: TSC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 365515
dbSNP Id: rs770381040

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132900784C>G , CM000671.2:g.132900784C>G GRCh38
NC_000009.11:g.135776171C>G , CM000671.1:g.135776171C>G GRCh37
NC_000009.10:g.134765992C>G NCBI36
NG_012386.1:g.48850G>C , LRG_486:g.48850G>C

Transcript Alleles

HGVS Amino-acid change
NM_000368.4:c.2556G>C , LRG_486t1:c.2556G>C NP_000359.1:p.Leu852=
NM_001162426.1:c.2553G>C VV NP_001155898.1:p.Leu851=
NM_001162427.1:c.2403G>C VV NP_001155899.1:p.Leu801=
XM_005272211.1:c.2556G>C XP_005272268.1:p.Leu852=
XM_006717271.1:c.2556G>C XP_006717334.1:p.Leu852=
XM_011518979.1:c.2556G>C XP_011517281.1:p.Leu852=
NM_001362177.1:c.2193G>C VV NP_001349106.1:p.Leu731=
XM_011518979.2:c.2556G>C XP_011517281.1:p.Leu852=
XM_017015096.1:c.2556G>C XP_016870585.1:p.Leu852=
XM_017015097.1:c.2556G>C XP_016870586.1:p.Leu852=
XM_017015098.1:c.2553G>C XP_016870587.1:p.Leu851=
XM_017015100.1:c.2193G>C XP_016870589.1:p.Leu731=
XM_017015101.1:c.2190G>C XP_016870590.1:p.Leu730=
NM_000368.5:c.2556G>C VV NP_000359.1:p.Leu852=
NM_001162426.2:c.2553G>C VV NP_001155898.1:p.Leu851=
NM_001162427.2:c.2403G>C VV NP_001155899.1:p.Leu801=
NM_001362177.2:c.2193G>C VV NP_001349106.1:p.Leu731=
ENST00000298552.7:c.2556G>C ENSP00000298552.3:p.Leu852=
ENST00000440111.6:c.2556G>C ENSP00000394524.2:p.Leu852=
ENST00000545250.5:c.2403G>C ENSP00000444017.1:p.Leu801=