Canonical Allele Identifier: CA15359375
Gene: MTTP HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99574331G>T
GRCh37 chr4:g.100495488G>T
gnomAD v2:
4:100495488 G / T
gnomAD v3:
4:99574331 G / T
gnomAD v4:
chr4-99574331-G-T
Joint Max Group AF 0.33306002 (SAS)
Genomes Max Group AF 0.33306002 (SAS)
ClinVar RCV:
RCV001519435
ClinVar Variation:
1168852
dbSNP:
1800591
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99574331G>T , CM000666.2:g.99574331G>T GRCh38
NC_000004.11:g.100495488G>T , CM000666.1:g.100495488G>T GRCh37
NC_000004.10:g.100714511G>T NCBI36
NG_011469.1:g.15249G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000457717.6:c.-101-478G>T ENSP00000400821.1:n.-101-478G>T
ENST00000505094.6:c.-189+3466G>T ENSP00000422782.2:n.-189+3466G>T
ENST00000511045.6:c.-188-7574G>T ENSP00000427679.2:n.-188-7574G>T
ENST00000511610.6:c.-101-478G>T ENSP00000422178.2:n.-101-478G>T
ENST00000457717.5:c.-101-478G>T ENSP00000400821.1:n.-101-478G>T
ENST00000504724.1:c.*327-478G>T ENSP00000422667.1:n.*327-478G>T
ENST00000505094.5:c.*151+3466G>T ENSP00000422782.1:n.*151+3466G>T
ENST00000505142.5:c.*90-478G>T ENSP00000425987.1:n.*90-478G>T
ENST00000506883.5:c.92-7574G>T ENSP00000426755.1:n.92-7574G>T
ENST00000511045.5:c.143-7574G>T ENSP00000427679.1:n.143-7574G>T
ENST00000511610.5:c.*90-478G>T ENSP00000422178.1:n.*90-478G>T
ENST00000513404.5:c.92-478G>T ENSP00000424972.1:n.92-478G>T
ENST00000515141.5:c.143-478G>T ENSP00000425642.1:n.143-478G>T
NM_000253.3:c.-101-478G>T NP_000244.2:n.-101-478G>T
NM_001300785.1:c.143-7574G>T NP_001287714.1:n.143-7574G>T
NM_000253.4:c.-101-478G>T NP_000244.2:n.-101-478G>T
NM_001300785.2:c.-188-7574G>T NP_001287714.2:n.-188-7574G>T
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