Canonical Allele Identifier: CA357501927
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583375T>G , CM000666.2:g.99583375T>G GRCh38
NC_000004.11:g.100504532T>G , CM000666.1:g.100504532T>G GRCh37
NC_000004.10:g.100723555T>G NCBI36
NG_011469.1:g.24293T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.251T>G MANE Select ENSP00000265517.5:p.Met84Arg
ENST00000457717.6:c.251T>G ENSP00000400821.1:p.Met84Arg
ENST00000505094.6:c.2T>G ENSP00000422782.2:p.Met1Arg
ENST00000511045.6:c.2T>G ENSP00000427679.2:p.Met1Arg
ENST00000265517.9:c.251T>G ENSP00000265517.5:p.Met84Arg
ENST00000422897.6:c.251T>G ENSP00000407350.2:p.Met84Arg
ENST00000457717.5:c.251T>G ENSP00000400821.1:p.Met84Arg
ENST00000505094.5:c.*341T>G ENSP00000422782.1:n.*341T>G
ENST00000506883.5:c.281T>G ENSP00000426755.1:p.Met94Arg
ENST00000511045.5:c.332T>G ENSP00000427679.1:p.Met111Arg
ENST00000513404.5:c.*314T>G ENSP00000424972.1:n.*314T>G
ENST00000515141.5:c.*314T>G ENSP00000425642.1:n.*314T>G
ENST00000619629.1:c.251T>G ENSP00000482850.1:p.Met84Arg
NM_000253.3:c.251T>G NP_000244.2:p.Met84Arg
NM_001300785.1:c.332T>G NP_001287714.1:p.Met111Arg
NM_000253.4:c.251T>G NP_000244.2:p.Met84Arg
NM_001300785.2:c.2T>G NP_001287714.2:p.Met1Arg
NM_001386140.1:c.251T>G MANE Select NP_001373069.1:p.Met84Arg