Canonical Allele Identifier: CA357508393
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600669A>C , CM000666.2:g.99600669A>C GRCh38
NC_000004.11:g.100521826A>C , CM000666.1:g.100521826A>C GRCh37
NC_000004.10:g.100740849A>C NCBI36
NG_011469.1:g.41587A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1172A>C MANE Select ENSP00000265517.5:p.Glu391Ala
ENST00000457717.6:c.1172A>C ENSP00000400821.1:p.Glu391Ala
ENST00000511045.6:c.923A>C ENSP00000427679.2:p.Glu308Ala
ENST00000265517.9:c.1172A>C ENSP00000265517.5:p.Glu391Ala
ENST00000457717.5:c.1172A>C ENSP00000400821.1:p.Glu391Ala
ENST00000511045.5:c.1253A>C ENSP00000427679.1:p.Glu418Ala
ENST00000619629.1:c.1172A>C ENSP00000482850.1:p.Glu391Ala
NM_000253.3:c.1172A>C NP_000244.2:p.Glu391Ala
NM_001300785.1:c.1253A>C NP_001287714.1:p.Glu418Ala
NM_000253.4:c.1172A>C NP_000244.2:p.Glu391Ala
NM_001300785.2:c.923A>C NP_001287714.2:p.Glu308Ala
NM_001386140.1:c.1172A>C MANE Select NP_001373069.1:p.Glu391Ala