Canonical Allele Identifier: CA3021802
Gene: MTTP HGNC NCBI

Linked Data

dbSNP Id: rs764452361
gnomAD v3: 4-99583441-G-T
gnomAD v4: 4-99583441-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583441G>T , CM000666.2:g.99583441G>T GRCh38
NC_000004.11:g.100504598G>T , CM000666.1:g.100504598G>T GRCh37
NC_000004.10:g.100723621G>T NCBI36
NG_011469.1:g.24359G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.317G>T MANE Select ENSP00000265517.5:p.Ser106Ile
ENST00000457717.6:c.317G>T ENSP00000400821.1:p.Ser106Ile
ENST00000511045.6:c.68G>T ENSP00000427679.2:p.Ser23Ile
ENST00000265517.9:c.317G>T ENSP00000265517.5:p.Ser106Ile
ENST00000422897.6:c.317G>T ENSP00000407350.2:p.Ser106Ile
ENST00000457717.5:c.317G>T ENSP00000400821.1:p.Ser106Ile
ENST00000506883.5:c.347G>T ENSP00000426755.1:p.Ser116Ile
ENST00000511045.5:c.398G>T ENSP00000427679.1:p.Ser133Ile
ENST00000515141.5:c.*380G>T ENSP00000425642.1:n.*380G>T
ENST00000619629.1:c.317G>T ENSP00000482850.1:p.Ser106Ile
NM_000253.3:c.317G>T NP_000244.2:p.Ser106Ile
NM_001300785.1:c.398G>T NP_001287714.1:p.Ser133Ile
NM_000253.4:c.317G>T NP_000244.2:p.Ser106Ile
NM_001300785.2:c.68G>T NP_001287714.2:p.Ser23Ile
NM_001386140.1:c.317G>T MANE Select NP_001373069.1:p.Ser106Ile