ClinVar

NM_000365.6(TPI1):c.383T>C (p.Ile128Thr)

Gene:

TPI1:triosephosphate isomerase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6869316 (on Assembly GRCh38)
• Chr12: 6978480 (on Assembly GRCh37)

Preferred name:

NM_000365.6(TPI1):c.383T>C (p.Ile128Thr)

HGVS:

• NC_000012.12:g.6869316T>C
• NG_011948.1:g.6897T>C
• NG_013308.1:g.9042A>G
• NM_000365.6:c.383T>CMANE SELECT
• NM_001159287.1:c.494T>C
• NM_001258026.2:c.137T>C
• NP_000356.1:p.Ile128Thr
• NP_001152759.1:p.Ile165Thr
• NP_001244955.1:p.Ile46Thr
• LRG_1126t1:c.383T>C
• LRG_1126:g.6897T>C
• LRG_1126p1:p.Ile128Thr
• NC_000012.11:g.6978480T>C

This HGVS expression did not pass validation

Protein change:

I128T

Links:

dbSNP: rs199881593

NCBI 1000 Genomes Browser:

rs199881593

Molecular consequence:

• NM_000365.6:c.383T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001159287.1:c.494T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258026.2:c.137T>C - missense variant - [Sequence Ontology: SO:0001583]