Canonical Allele Identifier: CA357502447
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583497C>G , CM000666.2:g.99583497C>G GRCh38
NC_000004.11:g.100504654C>G , CM000666.1:g.100504654C>G GRCh37
NC_000004.10:g.100723677C>G NCBI36
NG_011469.1:g.24415C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.373C>G MANE Select ENSP00000265517.5:p.Leu125Val
ENST00000457717.6:c.373C>G ENSP00000400821.1:p.Leu125Val
ENST00000511045.6:c.124C>G ENSP00000427679.2:p.Leu42Val
ENST00000265517.9:c.373C>G ENSP00000265517.5:p.Leu125Val
ENST00000422897.6:c.373C>G ENSP00000407350.2:p.Leu125Val
ENST00000457717.5:c.373C>G ENSP00000400821.1:p.Leu125Val
ENST00000506883.5:c.403C>G ENSP00000426755.1:p.Leu135Val
ENST00000511045.5:c.454C>G ENSP00000427679.1:p.Leu152Val
ENST00000619629.1:c.373C>G ENSP00000482850.1:p.Leu125Val
NM_000253.3:c.373C>G NP_000244.2:p.Leu125Val
NM_001300785.1:c.454C>G NP_001287714.1:p.Leu152Val
NM_000253.4:c.373C>G NP_000244.2:p.Leu125Val
NM_001300785.2:c.124C>G NP_001287714.2:p.Leu42Val
NM_001386140.1:c.373C>G MANE Select NP_001373069.1:p.Leu125Val