Canonical Allele Identifier: CA357505715
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99594768C>G , CM000666.2:g.99594768C>G GRCh38
NC_000004.11:g.100515925C>G , CM000666.1:g.100515925C>G GRCh37
NC_000004.10:g.100734948C>G NCBI36
NG_011469.1:g.35686C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.794C>G MANE Select ENSP00000265517.5:p.Pro265Arg
ENST00000457717.6:c.794C>G ENSP00000400821.1:p.Pro265Arg
ENST00000511045.6:c.545C>G ENSP00000427679.2:p.Pro182Arg
ENST00000265517.9:c.794C>G ENSP00000265517.5:p.Pro265Arg
ENST00000457717.5:c.794C>G ENSP00000400821.1:p.Pro265Arg
ENST00000511045.5:c.875C>G ENSP00000427679.1:p.Pro292Arg
ENST00000619629.1:c.794C>G ENSP00000482850.1:p.Pro265Arg
NM_000253.3:c.794C>G NP_000244.2:p.Pro265Arg
NM_001300785.1:c.875C>G NP_001287714.1:p.Pro292Arg
NM_000253.4:c.794C>G NP_000244.2:p.Pro265Arg
NM_001300785.2:c.545C>G NP_001287714.2:p.Pro182Arg
NM_001386140.1:c.794C>G MANE Select NP_001373069.1:p.Pro265Arg