Canonical Allele Identifier: CA357520125
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622680A>T , CM000666.2:g.99622680A>T GRCh38
NC_000004.11:g.100543837A>T , CM000666.1:g.100543837A>T GRCh37
NC_000004.10:g.100762860A>T NCBI36
NG_011469.1:g.63598A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.2517A>T MANE Select ENSP00000265517.5:p.Gln839His
ENST00000457717.6:c.2517A>T ENSP00000400821.1:p.Gln839His
ENST00000511045.6:c.2268A>T ENSP00000427679.2:p.Gln756His
ENST00000265517.9:c.2517A>T ENSP00000265517.5:p.Gln839His
ENST00000457717.5:c.2517A>T ENSP00000400821.1:p.Gln839His
ENST00000511045.5:c.2598A>T ENSP00000427679.1:p.Gln866His
ENST00000619629.1:c.*964A>T ENSP00000482850.1:n.*964A>T
NM_000253.3:c.2517A>T NP_000244.2:p.Gln839His
NM_001300785.1:c.2598A>T NP_001287714.1:p.Gln866His
NM_000253.4:c.2517A>T NP_000244.2:p.Gln839His
NM_001300785.2:c.2268A>T NP_001287714.2:p.Gln756His
NM_001386140.1:c.2517A>T MANE Select NP_001373069.1:p.Gln839His