Canonical Allele Identifier: CA123825
Gene: MTTP HGNC NCBI

Linked Data

ClinVar Variation Id: 14243
dbSNP Id: rs146064714
gnomAD v3: 4-99622756-G-T
gnomAD v4: 4-99622756-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622756G>T , CM000666.2:g.99622756G>T GRCh38
NC_000004.11:g.100543913G>T , CM000666.1:g.100543913G>T GRCh37
NC_000004.10:g.100762936G>T NCBI36
NG_011469.1:g.63674G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.2593G>T MANE Select ENSP00000265517.5:p.Gly865Ter
ENST00000457717.6:c.2593G>T ENSP00000400821.1:p.Gly865Ter
ENST00000511045.6:c.2344G>T ENSP00000427679.2:p.Gly782Ter
ENST00000265517.9:c.2593G>T ENSP00000265517.5:p.Gly865Ter
ENST00000457717.5:c.2593G>T ENSP00000400821.1:p.Gly865Ter
ENST00000511045.5:c.2674G>T ENSP00000427679.1:p.Gly892Ter
ENST00000619629.1:c.*1040G>T ENSP00000482850.1:n.*1040G>T
NM_000253.3:c.2593G>T NP_000244.2:p.Gly865Ter
NM_001300785.1:c.2674G>T NP_001287714.1:p.Gly892Ter
NM_000253.4:c.2593G>T NP_000244.2:p.Gly865Ter
NM_001300785.2:c.2344G>T NP_001287714.2:p.Gly782Ter
NM_001386140.1:c.2593G>T MANE Select NP_001373069.1:p.Gly865Ter