Canonical Allele Identifier: CA357520180
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622693T>C , CM000666.2:g.99622693T>C GRCh38
NC_000004.11:g.100543850T>C , CM000666.1:g.100543850T>C GRCh37
NC_000004.10:g.100762873T>C NCBI36
NG_011469.1:g.63611T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.2530T>C MANE Select ENSP00000265517.5:p.Tyr844His
ENST00000457717.6:c.2530T>C ENSP00000400821.1:p.Tyr844His
ENST00000511045.6:c.2281T>C ENSP00000427679.2:p.Tyr761His
ENST00000265517.9:c.2530T>C ENSP00000265517.5:p.Tyr844His
ENST00000457717.5:c.2530T>C ENSP00000400821.1:p.Tyr844His
ENST00000511045.5:c.2611T>C ENSP00000427679.1:p.Tyr871His
ENST00000619629.1:c.*977T>C ENSP00000482850.1:n.*977T>C
NM_000253.3:c.2530T>C NP_000244.2:p.Tyr844His
NM_001300785.1:c.2611T>C NP_001287714.1:p.Tyr871His
NM_000253.4:c.2530T>C NP_000244.2:p.Tyr844His
NM_001300785.2:c.2281T>C NP_001287714.2:p.Tyr761His
NM_001386140.1:c.2530T>C MANE Select NP_001373069.1:p.Tyr844His