Canonical Allele Identifier: CA245905
Gene: MTTP HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99589668A>G
GRCh37 chr4:g.100510825A>G
Revel Score:
ENST00000506883 0.096
ENST00000511045 0.096
ENST00000457717 0.096
ENST00000265517 (MANE Select) 0.096
ENST00000538053 0.096
gnomAD v2:
4:100510825 A / G
gnomAD v3:
4:99589668 A / G
gnomAD v4:
chr4-99589668-A-G
Joint Max Group AF 0.0050382 (AFR)
Genomes Max Group AF 0.0048587 (AFR)
Exomes Max Group AF 0.00486678 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99589668A>G , CM000666.2:g.99589668A>G GRCh38
NC_000004.11:g.100510825A>G , CM000666.1:g.100510825A>G GRCh37
NC_000004.10:g.100729848A>G NCBI36
NG_011469.1:g.30586A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.419A>G MANE Select ENSP00000265517.5:p.Asn140Ser
ENST00000457717.6:c.419A>G ENSP00000400821.1:p.Asn140Ser
ENST00000511045.6:c.170A>G ENSP00000427679.2:p.Asn57Ser
ENST00000265517.9:c.419A>G ENSP00000265517.5:p.Asn140Ser
ENST00000457717.5:c.419A>G ENSP00000400821.1:p.Asn140Ser
ENST00000506883.5:c.449A>G ENSP00000426755.1:p.Asn150Ser
ENST00000511045.5:c.500A>G ENSP00000427679.1:p.Asn167Ser
ENST00000619629.1:c.419A>G ENSP00000482850.1:p.Asn140Ser
NM_000253.3:c.419A>G NP_000244.2:p.Asn140Ser
NM_001300785.1:c.500A>G NP_001287714.1:p.Asn167Ser
NM_000253.4:c.419A>G NP_000244.2:p.Asn140Ser
NM_001300785.2:c.170A>G NP_001287714.2:p.Asn57Ser
NM_001386140.1:c.419A>G MANE Select NP_001373069.1:p.Asn140Ser
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