Canonical Allele Identifier: CA357520411
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622757G>T , CM000666.2:g.99622757G>T GRCh38
NC_000004.11:g.100543914G>T , CM000666.1:g.100543914G>T GRCh37
NC_000004.10:g.100762937G>T NCBI36
NG_011469.1:g.63675G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.2594G>T MANE Select ENSP00000265517.5:p.Gly865Val
ENST00000457717.6:c.2594G>T ENSP00000400821.1:p.Gly865Val
ENST00000511045.6:c.2345G>T ENSP00000427679.2:p.Gly782Val
ENST00000265517.9:c.2594G>T ENSP00000265517.5:p.Gly865Val
ENST00000457717.5:c.2594G>T ENSP00000400821.1:p.Gly865Val
ENST00000511045.5:c.2675G>T ENSP00000427679.1:p.Gly892Val
ENST00000619629.1:c.*1041G>T ENSP00000482850.1:n.*1041G>T
NM_000253.3:c.2594G>T NP_000244.2:p.Gly865Val
NM_001300785.1:c.2675G>T NP_001287714.1:p.Gly892Val
NM_000253.4:c.2594G>T NP_000244.2:p.Gly865Val
NM_001300785.2:c.2345G>T NP_001287714.2:p.Gly782Val
NM_001386140.1:c.2594G>T MANE Select NP_001373069.1:p.Gly865Val