Canonical Allele Identifier: CA1480083291
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99611156C= , CM000666.2:g.99611156C= GRCh38
NC_000004.11:g.100532313C= , CM000666.1:g.100532313C= GRCh37
NC_000004.10:g.100751336C= NCBI36
NG_011469.1:g.52074C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1783C= MANE Select ENSP00000265517.5:p.Arg595=
ENST00000457717.6:c.1783C= ENSP00000400821.1:p.Arg595=
ENST00000511045.6:c.1534C= ENSP00000427679.2:p.Arg512=
ENST00000265517.9:c.1783C= ENSP00000265517.5:p.Arg595=
ENST00000457717.5:c.1783C= ENSP00000400821.1:p.Arg595=
ENST00000511045.5:c.1864C= ENSP00000427679.1:p.Arg622=
ENST00000619629.1:c.*230C= ENSP00000482850.1:n.*230C=
NM_000253.3:c.1783C= NP_000244.2:p.Arg595=
NM_001300785.1:c.1864C= NP_001287714.1:p.Arg622=
NM_000253.4:c.1783C= NP_000244.2:p.Arg595=
NM_001300785.2:c.1534C= NP_001287714.2:p.Arg512=
NM_001386140.1:c.1783C= MANE Select NP_001373069.1:p.Arg595=