Canonical Allele Identifier: CA357507877
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600572C>G , CM000666.2:g.99600572C>G GRCh38
NC_000004.11:g.100521729C>G , CM000666.1:g.100521729C>G GRCh37
NC_000004.10:g.100740752C>G NCBI36
NG_011469.1:g.41490C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1075C>G MANE Select ENSP00000265517.5:p.Leu359Val
ENST00000457717.6:c.1075C>G ENSP00000400821.1:p.Leu359Val
ENST00000511045.6:c.826C>G ENSP00000427679.2:p.Leu276Val
ENST00000265517.9:c.1075C>G ENSP00000265517.5:p.Leu359Val
ENST00000457717.5:c.1075C>G ENSP00000400821.1:p.Leu359Val
ENST00000511045.5:c.1156C>G ENSP00000427679.1:p.Leu386Val
ENST00000619629.1:c.1075C>G ENSP00000482850.1:p.Leu359Val
NM_000253.3:c.1075C>G NP_000244.2:p.Leu359Val
NM_001300785.1:c.1156C>G NP_001287714.1:p.Leu386Val
NM_000253.4:c.1075C>G NP_000244.2:p.Leu359Val
NM_001300785.2:c.826C>G NP_001287714.2:p.Leu276Val
NM_001386140.1:c.1075C>G MANE Select NP_001373069.1:p.Leu359Val