Canonical Allele Identifier: CA3022160
Gene: MTTP HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99608923A>G
GRCh37 chr4:g.100530080A>G
Revel Score:
ENST00000511045 0.063
ENST00000457717 0.063
ENST00000265517 (MANE Select) 0.063
gnomAD v2:
4:100530080 A / G
gnomAD v3:
4:99608923 A / G
gnomAD v4:
chr4-99608923-A-G
Joint Max Group AF 0.00297611 (SAS)
Genomes Max Group AF 0.00016906 (SAS)
Exomes Max Group AF 0.00310988 (SAS)
ClinVar RCV:
RCV000316882
RCV001828278
ClinVar Variation:
290865
dbSNP:
772602972
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99608923A>G , CM000666.2:g.99608923A>G GRCh38
NC_000004.11:g.100530080A>G , CM000666.1:g.100530080A>G GRCh37
NC_000004.10:g.100749103A>G NCBI36
NG_011469.1:g.49841A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1715A>G MANE Select ENSP00000265517.5:p.Asn572Ser
ENST00000457717.6:c.1715A>G ENSP00000400821.1:p.Asn572Ser
ENST00000511045.6:c.1466A>G ENSP00000427679.2:p.Asn489Ser
ENST00000265517.9:c.1715A>G ENSP00000265517.5:p.Asn572Ser
ENST00000457717.5:c.1715A>G ENSP00000400821.1:p.Asn572Ser
ENST00000511045.5:c.1796A>G ENSP00000427679.1:p.Asn599Ser
ENST00000619629.1:c.*162A>G ENSP00000482850.1:n.*162A>G
NM_000253.3:c.1715A>G NP_000244.2:p.Asn572Ser
NM_001300785.1:c.1796A>G NP_001287714.1:p.Asn599Ser
NM_000253.4:c.1715A>G NP_000244.2:p.Asn572Ser
NM_001300785.2:c.1466A>G NP_001287714.2:p.Asn489Ser
NM_001386140.1:c.1715A>G MANE Select NP_001373069.1:p.Asn572Ser
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