Canonical Allele Identifier: CA3021799
Gene: MTTP HGNC NCBI

Linked Data

ClinVar Variation Id: 347021
dbSNP Id: rs2306986
gnomAD v3: 4-99583418-G-C
gnomAD v4: 4-99583418-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583418G>C , CM000666.2:g.99583418G>C GRCh38
NC_000004.11:g.100504575G>C , CM000666.1:g.100504575G>C GRCh37
NC_000004.10:g.100723598G>C NCBI36
NG_011469.1:g.24336G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.294G>C MANE Select ENSP00000265517.5:p.Glu98Asp
ENST00000457717.6:c.294G>C ENSP00000400821.1:p.Glu98Asp
ENST00000505094.6:c.45G>C ENSP00000422782.2:p.Glu15Asp
ENST00000511045.6:c.45G>C ENSP00000427679.2:p.Glu15Asp
ENST00000265517.9:c.294G>C ENSP00000265517.5:p.Glu98Asp
ENST00000422897.6:c.294G>C ENSP00000407350.2:p.Glu98Asp
ENST00000457717.5:c.294G>C ENSP00000400821.1:p.Glu98Asp
ENST00000505094.5:c.*384G>C ENSP00000422782.1:n.*384G>C
ENST00000506883.5:c.324G>C ENSP00000426755.1:p.Glu108Asp
ENST00000511045.5:c.375G>C ENSP00000427679.1:p.Glu125Asp
ENST00000515141.5:c.*357G>C ENSP00000425642.1:n.*357G>C
ENST00000619629.1:c.294G>C ENSP00000482850.1:p.Glu98Asp
NM_000253.3:c.294G>C NP_000244.2:p.Glu98Asp
NM_001300785.1:c.375G>C NP_001287714.1:p.Glu125Asp
NM_000253.4:c.294G>C NP_000244.2:p.Glu98Asp
NM_001300785.2:c.45G>C NP_001287714.2:p.Glu15Asp
NM_001386140.1:c.294G>C MANE Select NP_001373069.1:p.Glu98Asp