Canonical Allele Identifier: CA357508416
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600672G>A , CM000666.2:g.99600672G>A GRCh38
NC_000004.11:g.100521829G>A , CM000666.1:g.100521829G>A GRCh37
NC_000004.10:g.100740852G>A NCBI36
NG_011469.1:g.41590G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1175G>A MANE Select ENSP00000265517.5:p.Arg392Lys
ENST00000457717.6:c.1175G>A ENSP00000400821.1:p.Arg392Lys
ENST00000511045.6:c.926G>A ENSP00000427679.2:p.Arg309Lys
ENST00000265517.9:c.1175G>A ENSP00000265517.5:p.Arg392Lys
ENST00000457717.5:c.1175G>A ENSP00000400821.1:p.Arg392Lys
ENST00000511045.5:c.1256G>A ENSP00000427679.1:p.Arg419Lys
ENST00000619629.1:c.1175G>A ENSP00000482850.1:p.Arg392Lys
NM_000253.3:c.1175G>A NP_000244.2:p.Arg392Lys
NM_001300785.1:c.1256G>A NP_001287714.1:p.Arg419Lys
NM_000253.4:c.1175G>A NP_000244.2:p.Arg392Lys
NM_001300785.2:c.926G>A NP_001287714.2:p.Arg309Lys
NM_001386140.1:c.1175G>A MANE Select NP_001373069.1:p.Arg392Lys