Canonical Allele Identifier: CA3022360
Gene: MTTP HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99621151G>C
GRCh37 chr4:g.100542308G>C
Revel Score:
ENST00000511045 0.270
ENST00000457717 0.270
ENST00000265517 (MANE Select) 0.270
gnomAD v2:
4:100542308 G / C
gnomAD v3:
4:99621151 G / C
gnomAD v4:
chr4-99621151-G-C
Joint Max Group AF 0.00526857 (MID)
Genomes Max Group AF 0.00254805 (AMR)
Exomes Max Group AF 0.0050844 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99621151G>C , CM000666.2:g.99621151G>C GRCh38
NC_000004.11:g.100542308G>C , CM000666.1:g.100542308G>C GRCh37
NC_000004.10:g.100761331G>C NCBI36
NG_011469.1:g.62069G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.2433G>C MANE Select ENSP00000265517.5:p.Leu811Phe
ENST00000457717.6:c.2433G>C ENSP00000400821.1:p.Leu811Phe
ENST00000511045.6:c.2184G>C ENSP00000427679.2:p.Leu728Phe
ENST00000265517.9:c.2433G>C ENSP00000265517.5:p.Leu811Phe
ENST00000457717.5:c.2433G>C ENSP00000400821.1:p.Leu811Phe
ENST00000511045.5:c.2514G>C ENSP00000427679.1:p.Leu838Phe
ENST00000619629.1:c.*880G>C ENSP00000482850.1:n.*880G>C
NM_000253.3:c.2433G>C NP_000244.2:p.Leu811Phe
NM_001300785.1:c.2514G>C NP_001287714.1:p.Leu838Phe
NM_000253.4:c.2433G>C NP_000244.2:p.Leu811Phe
NM_001300785.2:c.2184G>C NP_001287714.2:p.Leu728Phe
NM_001386140.1:c.2433G>C MANE Select NP_001373069.1:p.Leu811Phe
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