Canonical Allele Identifier: CA357502093
Gene: MTTP HGNC NCBI

Linked Data

gnomAD v4: 4-99583413-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583413G>A , CM000666.2:g.99583413G>A GRCh38
NC_000004.11:g.100504570G>A , CM000666.1:g.100504570G>A GRCh37
NC_000004.10:g.100723593G>A NCBI36
NG_011469.1:g.24331G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.289G>A MANE Select ENSP00000265517.5:p.Gly97Arg
ENST00000457717.6:c.289G>A ENSP00000400821.1:p.Gly97Arg
ENST00000505094.6:c.40G>A ENSP00000422782.2:p.Gly14Arg
ENST00000511045.6:c.40G>A ENSP00000427679.2:p.Gly14Arg
ENST00000265517.9:c.289G>A ENSP00000265517.5:p.Gly97Arg
ENST00000422897.6:c.289G>A ENSP00000407350.2:p.Gly97Arg
ENST00000457717.5:c.289G>A ENSP00000400821.1:p.Gly97Arg
ENST00000505094.5:c.*379G>A ENSP00000422782.1:n.*379G>A
ENST00000506883.5:c.319G>A ENSP00000426755.1:p.Gly107Arg
ENST00000511045.5:c.370G>A ENSP00000427679.1:p.Gly124Arg
ENST00000513404.5:c.*352G>A ENSP00000424972.1:n.*352G>A
ENST00000515141.5:c.*352G>A ENSP00000425642.1:n.*352G>A
ENST00000619629.1:c.289G>A ENSP00000482850.1:p.Gly97Arg
NM_000253.3:c.289G>A NP_000244.2:p.Gly97Arg
NM_001300785.1:c.370G>A NP_001287714.1:p.Gly124Arg
NM_000253.4:c.289G>A NP_000244.2:p.Gly97Arg
NM_001300785.2:c.40G>A NP_001287714.2:p.Gly14Arg
NM_001386140.1:c.289G>A MANE Select NP_001373069.1:p.Gly97Arg