Canonical Allele Identifier: CA357505927
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99594865C>A , CM000666.2:g.99594865C>A GRCh38
NC_000004.11:g.100516022C>A , CM000666.1:g.100516022C>A GRCh37
NC_000004.10:g.100735045C>A NCBI36
NG_011469.1:g.35783C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.891C>A MANE Select ENSP00000265517.5:p.His297Gln
ENST00000457717.6:c.891C>A ENSP00000400821.1:p.His297Gln
ENST00000511045.6:c.642C>A ENSP00000427679.2:p.His214Gln
ENST00000265517.9:c.891C>A ENSP00000265517.5:p.His297Gln
ENST00000457717.5:c.891C>A ENSP00000400821.1:p.His297Gln
ENST00000511045.5:c.972C>A ENSP00000427679.1:p.His324Gln
ENST00000619629.1:c.891C>A ENSP00000482850.1:p.His297Gln
NM_000253.3:c.891C>A NP_000244.2:p.His297Gln
NM_001300785.1:c.972C>A NP_001287714.1:p.His324Gln
NM_000253.4:c.891C>A NP_000244.2:p.His297Gln
NM_001300785.2:c.642C>A NP_001287714.2:p.His214Gln
NM_001386140.1:c.891C>A MANE Select NP_001373069.1:p.His297Gln