Canonical Allele Identifier: CA357520184
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622694A>G , CM000666.2:g.99622694A>G GRCh38
NC_000004.11:g.100543851A>G , CM000666.1:g.100543851A>G GRCh37
NC_000004.10:g.100762874A>G NCBI36
NG_011469.1:g.63612A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.2531A>G MANE Select ENSP00000265517.5:p.Tyr844Cys
ENST00000457717.6:c.2531A>G ENSP00000400821.1:p.Tyr844Cys
ENST00000511045.6:c.2282A>G ENSP00000427679.2:p.Tyr761Cys
ENST00000265517.9:c.2531A>G ENSP00000265517.5:p.Tyr844Cys
ENST00000457717.5:c.2531A>G ENSP00000400821.1:p.Tyr844Cys
ENST00000511045.5:c.2612A>G ENSP00000427679.1:p.Tyr871Cys
ENST00000619629.1:c.*978A>G ENSP00000482850.1:n.*978A>G
NM_000253.3:c.2531A>G NP_000244.2:p.Tyr844Cys
NM_001300785.1:c.2612A>G NP_001287714.1:p.Tyr871Cys
NM_000253.4:c.2531A>G NP_000244.2:p.Tyr844Cys
NM_001300785.2:c.2282A>G NP_001287714.2:p.Tyr761Cys
NM_001386140.1:c.2531A>G MANE Select NP_001373069.1:p.Tyr844Cys