Canonical Allele Identifier: CA123820
Gene: MTTP HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99608827G>A
GRCh37 chr4:g.100529984G>A
Revel Score:
ENST00000511045 0.899
ENST00000457717 0.899
ENST00000265517 (MANE Select) 0.899
gnomAD v2:
4:100529984 G / A
gnomAD v3:
4:99608827 G / A
gnomAD v4:
chr4-99608827-G-A
Joint Max Group AF 0.00004101 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00004005 (NFE)
ClinVar RCV:
RCV000015306
RCV001222493
ClinVar Variation:
14238
dbSNP:
199422220
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99608827G>A , CM000666.2:g.99608827G>A GRCh38
NC_000004.11:g.100529984G>A , CM000666.1:g.100529984G>A GRCh37
NC_000004.10:g.100749007G>A NCBI36
NG_011469.1:g.49745G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1619G>A MANE Select ENSP00000265517.5:p.Arg540His
ENST00000457717.6:c.1619G>A ENSP00000400821.1:p.Arg540His
ENST00000511045.6:c.1370G>A ENSP00000427679.2:p.Arg457His
ENST00000265517.9:c.1619G>A ENSP00000265517.5:p.Arg540His
ENST00000457717.5:c.1619G>A ENSP00000400821.1:p.Arg540His
ENST00000511045.5:c.1700G>A ENSP00000427679.1:p.Arg567His
ENST00000619629.1:c.*66G>A ENSP00000482850.1:n.*66G>A
NM_000253.3:c.1619G>A NP_000244.2:p.Arg540His
NM_001300785.1:c.1700G>A NP_001287714.1:p.Arg567His
NM_000253.4:c.1619G>A NP_000244.2:p.Arg540His
NM_001300785.2:c.1370G>A NP_001287714.2:p.Arg457His
NM_001386140.1:c.1619G>A MANE Select NP_001373069.1:p.Arg540His
Search 100 bp 5'
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