Canonical Allele Identifier: CA357501996
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583387A>T , CM000666.2:g.99583387A>T GRCh38
NC_000004.11:g.100504544A>T , CM000666.1:g.100504544A>T GRCh37
NC_000004.10:g.100723567A>T NCBI36
NG_011469.1:g.24305A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.263A>T MANE Select ENSP00000265517.5:p.Asn88Ile
ENST00000457717.6:c.263A>T ENSP00000400821.1:p.Asn88Ile
ENST00000505094.6:c.14A>T ENSP00000422782.2:p.Asn5Ile
ENST00000511045.6:c.14A>T ENSP00000427679.2:p.Asn5Ile
ENST00000265517.9:c.263A>T ENSP00000265517.5:p.Asn88Ile
ENST00000422897.6:c.263A>T ENSP00000407350.2:p.Asn88Ile
ENST00000457717.5:c.263A>T ENSP00000400821.1:p.Asn88Ile
ENST00000505094.5:c.*353A>T ENSP00000422782.1:n.*353A>T
ENST00000506883.5:c.293A>T ENSP00000426755.1:p.Asn98Ile
ENST00000511045.5:c.344A>T ENSP00000427679.1:p.Asn115Ile
ENST00000513404.5:c.*326A>T ENSP00000424972.1:n.*326A>T
ENST00000515141.5:c.*326A>T ENSP00000425642.1:n.*326A>T
ENST00000619629.1:c.263A>T ENSP00000482850.1:p.Asn88Ile
NM_000253.3:c.263A>T NP_000244.2:p.Asn88Ile
NM_001300785.1:c.344A>T NP_001287714.1:p.Asn115Ile
NM_000253.4:c.263A>T NP_000244.2:p.Asn88Ile
NM_001300785.2:c.14A>T NP_001287714.2:p.Asn5Ile
NM_001386140.1:c.263A>T MANE Select NP_001373069.1:p.Asn88Ile