Canonical Allele Identifier: CA357502211
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583438A>G , CM000666.2:g.99583438A>G GRCh38
NC_000004.11:g.100504595A>G , CM000666.1:g.100504595A>G GRCh37
NC_000004.10:g.100723618A>G NCBI36
NG_011469.1:g.24356A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.314A>G MANE Select ENSP00000265517.5:p.Lys105Arg
ENST00000457717.6:c.314A>G ENSP00000400821.1:p.Lys105Arg
ENST00000511045.6:c.65A>G ENSP00000427679.2:p.Lys22Arg
ENST00000265517.9:c.314A>G ENSP00000265517.5:p.Lys105Arg
ENST00000422897.6:c.314A>G ENSP00000407350.2:p.Lys105Arg
ENST00000457717.5:c.314A>G ENSP00000400821.1:p.Lys105Arg
ENST00000506883.5:c.344A>G ENSP00000426755.1:p.Lys115Arg
ENST00000511045.5:c.395A>G ENSP00000427679.1:p.Lys132Arg
ENST00000515141.5:c.*377A>G ENSP00000425642.1:n.*377A>G
ENST00000619629.1:c.314A>G ENSP00000482850.1:p.Lys105Arg
NM_000253.3:c.314A>G NP_000244.2:p.Lys105Arg
NM_001300785.1:c.395A>G NP_001287714.1:p.Lys132Arg
NM_000253.4:c.314A>G NP_000244.2:p.Lys105Arg
NM_001300785.2:c.65A>G NP_001287714.2:p.Lys22Arg
NM_001386140.1:c.314A>G MANE Select NP_001373069.1:p.Lys105Arg