Canonical Allele Identifier: CA357502270
Gene: MTTP HGNC NCBI

Linked Data

gnomAD v4: 4-99583452-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583452A>G , CM000666.2:g.99583452A>G GRCh38
NC_000004.11:g.100504609A>G , CM000666.1:g.100504609A>G GRCh37
NC_000004.10:g.100723632A>G NCBI36
NG_011469.1:g.24370A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.328A>G MANE Select ENSP00000265517.5:p.Ile110Val
ENST00000457717.6:c.328A>G ENSP00000400821.1:p.Ile110Val
ENST00000511045.6:c.79A>G ENSP00000427679.2:p.Ile27Val
ENST00000265517.9:c.328A>G ENSP00000265517.5:p.Ile110Val
ENST00000422897.6:c.328A>G ENSP00000407350.2:p.Ile110Val
ENST00000457717.5:c.328A>G ENSP00000400821.1:p.Ile110Val
ENST00000506883.5:c.358A>G ENSP00000426755.1:p.Ile120Val
ENST00000511045.5:c.409A>G ENSP00000427679.1:p.Ile137Val
ENST00000515141.5:c.*391A>G ENSP00000425642.1:n.*391A>G
ENST00000619629.1:c.328A>G ENSP00000482850.1:p.Ile110Val
NM_000253.3:c.328A>G NP_000244.2:p.Ile110Val
NM_001300785.1:c.409A>G NP_001287714.1:p.Ile137Val
NM_000253.4:c.328A>G NP_000244.2:p.Ile110Val
NM_001300785.2:c.79A>G NP_001287714.2:p.Ile27Val
NM_001386140.1:c.328A>G MANE Select NP_001373069.1:p.Ile110Val