Canonical Allele Identifier: CA1065947477
Gene: MTTP HGNC NCBI
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

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