Canonical Allele Identifier: CA357502112
Gene: MTTP HGNC NCBI

Linked Data

dbSNP Id: rs1560614633
gnomAD v4: 4-99583417-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583417A>G , CM000666.2:g.99583417A>G GRCh38
NC_000004.11:g.100504574A>G , CM000666.1:g.100504574A>G GRCh37
NC_000004.10:g.100723597A>G NCBI36
NG_011469.1:g.24335A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.293A>G MANE Select ENSP00000265517.5:p.Glu98Gly
ENST00000457717.6:c.293A>G ENSP00000400821.1:p.Glu98Gly
ENST00000505094.6:c.44A>G ENSP00000422782.2:p.Glu15Gly
ENST00000511045.6:c.44A>G ENSP00000427679.2:p.Glu15Gly
ENST00000265517.9:c.293A>G ENSP00000265517.5:p.Glu98Gly
ENST00000422897.6:c.293A>G ENSP00000407350.2:p.Glu98Gly
ENST00000457717.5:c.293A>G ENSP00000400821.1:p.Glu98Gly
ENST00000505094.5:c.*383A>G ENSP00000422782.1:n.*383A>G
ENST00000506883.5:c.323A>G ENSP00000426755.1:p.Glu108Gly
ENST00000511045.5:c.374A>G ENSP00000427679.1:p.Glu125Gly
ENST00000515141.5:c.*356A>G ENSP00000425642.1:n.*356A>G
ENST00000619629.1:c.293A>G ENSP00000482850.1:p.Glu98Gly
NM_000253.3:c.293A>G NP_000244.2:p.Glu98Gly
NM_001300785.1:c.374A>G NP_001287714.1:p.Glu125Gly
NM_000253.4:c.293A>G NP_000244.2:p.Glu98Gly
NM_001300785.2:c.44A>G NP_001287714.2:p.Glu15Gly
NM_001386140.1:c.293A>G MANE Select NP_001373069.1:p.Glu98Gly