Canonical Allele Identifier: CA3022041
Gene: MTTP HGNC NCBI
ClinVar RCV:
RCV000279021
RCV000607200
RCV001522096
ClinVar Variation:
283193
COSMIC:
COSM4985052
dbSNP:
17029215
gnomAD v2:
4:100521805 A / C
gnomAD v3:
4:99600648 A / C
gnomAD v4:
chr4-99600648-A-C
Joint Max Group AF 0.15437322 (AFR)
Genomes Max Group AF 0.14959484 (AFR)
Exomes Max Group AF 0.15811702 (AFR)
MyVariant.info:
GRCh38 chr4:g.99600648A>C
GRCh37 chr4:g.100521805A>C
Revel Score:
ENST00000511045 0.048
ENST00000457717 0.048
ENST00000265517 (MANE Select) 0.048
ENST00000538053 0.048
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600648A>C , CM000666.2:g.99600648A>C GRCh38
NC_000004.11:g.100521805A>C , CM000666.1:g.100521805A>C GRCh37
NC_000004.10:g.100740828A>C NCBI36
NG_011469.1:g.41566A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1151A>C MANE Select ENSP00000265517.5:p.Asp384Ala
ENST00000457717.6:c.1151A>C ENSP00000400821.1:p.Asp384Ala
ENST00000511045.6:c.902A>C ENSP00000427679.2:p.Asp301Ala
ENST00000265517.9:c.1151A>C ENSP00000265517.5:p.Asp384Ala
ENST00000457717.5:c.1151A>C ENSP00000400821.1:p.Asp384Ala
ENST00000511045.5:c.1232A>C ENSP00000427679.1:p.Asp411Ala
ENST00000619629.1:c.1151A>C ENSP00000482850.1:p.Asp384Ala
NM_000253.3:c.1151A>C NP_000244.2:p.Asp384Ala
NM_001300785.1:c.1232A>C NP_001287714.1:p.Asp411Ala
NM_000253.4:c.1151A>C NP_000244.2:p.Asp384Ala
NM_001300785.2:c.902A>C NP_001287714.2:p.Asp301Ala
NM_001386140.1:c.1151A>C MANE Select NP_001373069.1:p.Asp384Ala
Search 100 bp 5'
Search 100 bp 3'