Canonical Allele Identifier: CA440332823
Gene: MTTP HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.100543840T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622683T>C , CM000666.2:g.99622683T>C GRCh38
NC_000004.11:g.100543840T>C , CM000666.1:g.100543840T>C GRCh37
NC_000004.10:g.100762863T>C NCBI36
NG_011469.1:g.63601T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.2520T>C MANE Select ENSP00000265517.5:p.Phe840=
ENST00000457717.6:c.2520T>C ENSP00000400821.1:p.Phe840=
ENST00000511045.6:c.2271T>C ENSP00000427679.2:p.Phe757=
ENST00000265517.9:c.2520T>C ENSP00000265517.5:p.Phe840=
ENST00000457717.5:c.2520T>C ENSP00000400821.1:p.Phe840=
ENST00000511045.5:c.2601T>C ENSP00000427679.1:p.Phe867=
ENST00000619629.1:c.*967T>C ENSP00000482850.1:n.*967T>C
NM_000253.3:c.2520T>C NP_000244.2:p.Phe840=
NM_001300785.1:c.2601T>C NP_001287714.1:p.Phe867=
NM_000253.4:c.2520T>C NP_000244.2:p.Phe840=
NM_001300785.2:c.2271T>C NP_001287714.2:p.Phe757=
NM_001386140.1:c.2520T>C MANE Select NP_001373069.1:p.Phe840=