Canonical Allele Identifier: CA123823
Gene: MTTP HGNC NCBI

Linked Data

ClinVar Variation Id: 14242
dbSNP Id: rs3816873

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583507T>C , CM000666.2:g.99583507T>C GRCh38
NC_000004.11:g.100504664T>C , CM000666.1:g.100504664T>C GRCh37
NC_000004.10:g.100723687T>C NCBI36
NG_011469.1:g.24425T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.383T>C MANE Select ENSP00000265517.5:p.Ile128Thr
ENST00000457717.6:c.383T>C ENSP00000400821.1:p.Ile128Thr
ENST00000511045.6:c.134T>C ENSP00000427679.2:p.Ile45Thr
ENST00000265517.9:c.383T>C ENSP00000265517.5:p.Ile128Thr
ENST00000422897.6:c.383T>C ENSP00000407350.2:p.Ile128Thr
ENST00000457717.5:c.383T>C ENSP00000400821.1:p.Ile128Thr
ENST00000506883.5:c.413T>C ENSP00000426755.1:p.Ile138Thr
ENST00000511045.5:c.464T>C ENSP00000427679.1:p.Ile155Thr
ENST00000619629.1:c.383T>C ENSP00000482850.1:p.Ile128Thr
NM_000253.3:c.383T>C NP_000244.2:p.Ile128Thr
NM_001300785.1:c.464T>C NP_001287714.1:p.Ile155Thr
NM_000253.4:c.383T>C NP_000244.2:p.Ile128Thr
NM_001300785.2:c.134T>C NP_001287714.2:p.Ile45Thr
NM_001386140.1:c.383T>C MANE Select NP_001373069.1:p.Ile128Thr