Canonical Allele Identifier: CA357520319
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622733A>C , CM000666.2:g.99622733A>C GRCh38
NC_000004.11:g.100543890A>C , CM000666.1:g.100543890A>C GRCh37
NC_000004.10:g.100762913A>C NCBI36
NG_011469.1:g.63651A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.2570A>C MANE Select ENSP00000265517.5:p.Lys857Thr
ENST00000457717.6:c.2570A>C ENSP00000400821.1:p.Lys857Thr
ENST00000511045.6:c.2321A>C ENSP00000427679.2:p.Lys774Thr
ENST00000265517.9:c.2570A>C ENSP00000265517.5:p.Lys857Thr
ENST00000457717.5:c.2570A>C ENSP00000400821.1:p.Lys857Thr
ENST00000511045.5:c.2651A>C ENSP00000427679.1:p.Lys884Thr
ENST00000619629.1:c.*1017A>C ENSP00000482850.1:n.*1017A>C
NM_000253.3:c.2570A>C NP_000244.2:p.Lys857Thr
NM_001300785.1:c.2651A>C NP_001287714.1:p.Lys884Thr
NM_000253.4:c.2570A>C NP_000244.2:p.Lys857Thr
NM_001300785.2:c.2321A>C NP_001287714.2:p.Lys774Thr
NM_001386140.1:c.2570A>C MANE Select NP_001373069.1:p.Lys857Thr